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Independent learning program for GPs Unit Unit474 464September November 2011 2010 Bipolar Breast disorders symptoms www.racgp.org.au/check
Independent learning program for GPs Medical Editor Catherine Dodgshun Bipolar symptoms Breast disorders Editor Nicole Kouros Unit 474 464 September November 2010 2011 Production Coordinator Morgan Liotta From the editor 2 Senior Graphic Designer Jason Farrugia Case 1 Chris’ has Marie concern found a lump 3 Graphic Designer Case 2 Elizabeth Dorothy ispresents experiencing with nipple pain indischarge her groin 6 Beverly Jongue Authors Case 3 Jill’s knee lactational Joanne’s pain breast abscess 9 Leila Cusack Case 4 Angela Kate has presents pain in her withleft painful breast and stiff joints 12 Meagan Brennan Reviewer Case 5 Jan has Does Barbara ongoing have knee breast paincancer? 16 15 Rebecca Stewart References Case 6 Jacinta is concerned she’s at risk 21 18 Subscriptions Resources References 22 For subscriptions and enquiries please call 1800 331 626 Category Resources 2 QI&CPD activity 24 23 or email check@racgp.org.au. Category 2 QI&CPD activity 24 Published by The Royal Australian College of General Practitioners College House, 1 Palmerston Crescent South Melbourne, Victoria 3205, Australia Telephone 03 8699 0414 Facsimile 03 8699 0400 www.racgp.org.au ACN 000 223 807 ABN 34 000 223 807 ISSN 0812-9630 © The Royal Australian College of General The five domains of general practice Communication skills and the patient-doctor relationship Practitioners 2011. All rights reserved. Applied professional knowledge and skills Population health and the context of general practice The opinions expressed in check are not Professional and ethical role Organisational and legal dimensions necessarily those of the RACGP. Please address all letters concerning the content to the medical editor. Printed by Printgraphics Pty Ltd, 14 Hardner Road, Mount Waverley, Victoria 3149 Telephone 03 9562 9600.
from the editor check Breast symptoms This unit of check looks at patients presenting with breast symptoms such as a breast lump, nipple discharge and mastalgia. Breast symptoms are common presenting symptoms in general practice, and competence in management of breast complaints, and particularly those that suggest malignancy, is paramount. The ‘triple test’ remains the cornerstone in the assessment of new breast symptoms and confidence in using it will contribute to accurate diagnosis and appropriate treatment of breast lesions. This unit also provides an outline of assessment of breast cancer risk an explores some of the options for management of breast cancer. The authors of this unit are: • Dr Leila Cusack BSc, MBBS(Hons), Junior Medical Officer, Royal North Shore Hospital, New South Wales. Her research and clinical interests include breast care, as well as emergency medicine • Dr Meagan Brennan, BMed, FRACGP, DFM, a breast physician at the Poche Centre, North Sydney and Westmead Hospital. She is also Clinical Senior Lecturer, Sydney Medical School, University of Sydney, New South Wales. Her clinical and research interests include diagnosis of breast conditions, survivorship care after breast cancer treatment, and management of women at high genetic risk of breast cancer. The authors would like to acknowledge the contribution of Associate Professor Judy Kirk from the Familial Cancer Service, Westmead Hospital, New South Wales in the preparation of Case 6. The learning objectives of this unit are to: • display increased confidence in assessing and managing common breast symptoms such as a breast lump, nipple discharge and mastalgia • demonstrate knowledge of the components of the triple test, recognise the crucial role of the triple test in investigating any new breast symptom and display increased confidence in utilising the triple test and interpreting its results • appropriately classify an individual into one of the three categories developed by the National Breast and Ovarian Cancer Centre pertaining to breast cancer risk, and to display an increased awareness of the options for managing their risk • display increased confidence in the diagnosis and timely referral of a person with suspected breast cancer and breast abscess • display increased awareness of the role of a familial cancer clinic • display increased knowledge of the risk factors for breast cancer, and an increased awareness of some of the options for managing breast cancer. We hope that this unit of check will assist you to confidently assess and manage patients who present with breast symptoms in general practice. Kind regards Catherine Dodgshun Medical Editor 2
check Breast symptoms Case 1 Question 3 Case 1 What investigations would you recommend? What is the ‘triple test’? Marie has found a lump Marie is 24 years of age. She is an administrative assistant who presents to you worried about a lump she has found in her left breast. She is an otherwise healthy nonsmoker with no significant medical history, and no family history of breast cancer. She is married with a 3 year old daughter who she breastfed for 10 months. Marie noticed the lump while dressing 4 days ago. There is no associated pain, tenderness or nipple discharge and she is systemically well. She is currently in the first week of her menstrual cycle. She has had no previous breast problems and has never had any investigations of her breasts. Question 4 On examination there is a 10 mm firm, smooth, oval, What are the three different types of breast biopsy and what are the nontender lump palpable in the upper outer quadrant of advantages and limitations of each biopsy type? the left breast in the 2 o’clock position, 4 cm from the nipple. It is mobile and not tethered to skin or muscle. The breasts are otherwise symmetrical. There are no other lumps palpable, no nipple inversion and no axillary or cervical lymphadenopathy. Question 1 What is the differential diagnosis for this breast lump? Further information You request an ultrasound which shows a well defined hypoechoic lesion 12 mm in diameter. You request a core biopsy to be performed by your local radiology provider who employs a radiologist experienced in performing core biopsies. The core biopsy demonstrates benign breast tissue (glandular and stromal elements) consistent with a fibroadenoma. Question 5 What are the options for management? Question 2 What is the most likely diagnosis in Marie’s case? 3
Case 1 check Breast symptoms Question 6 Answer 3 What should you tell Marie about her risk of developing breast cancer All discretely palpable lumps in the breast require assessment with following her diagnosis of fibroadenoma? triple testing.4,5 The ‘triple test’ consists of: • thorough history and clinical breast examination • breast imaging: – in women aged younger than 35 years – bilateral breast ultrasound, and bilateral mammogram if there are suspicious features on ultrasound – women aged between 35 and 50 years of age – bilateral mammogram plus bilateral breast ultrasound – women aged over 50 years – bilateral mammogram with the addition of bilateral ultrasound if the mammogram is normal or unhelpful in the presence of a clinical abnormality CASE 1 ANSWERS • nonsurgical (percutaneous) biopsy (fine needle biopsy or core needle biopsy). The triple test is ‘negative’ if all three components are normal Answer 1 or benign. A negative triple test excludes malignancy with over The clinical features of Marie’s lump, such as its smooth consistency 99% accuracy.6 Most lesions in this category can be managed and mobility, and the absence of associated lymphadenopathy and conservatively, with clinical and imaging surveillance.7 skin changes, suggest a benign condition.1,2 The triple test is considered ‘positive’ if any of the three components The differential diagnosis includes the common causes of benign is atypical, suspicious or malignant. A positive triple test requires lumps, and must also include the unlikely diagnosis of malignancy, further investigation, usually with surgical (open/excisional) biopsy. as malignant lumps in young women often do not have the typically Interpretation of the triple test is crucial, and lesions that are atypical suspicious features seen in older women. Differential diagnoses of or suspicious on clinical and/or imaging assessment still require Marie’s lump include: surgical (open/excisional) biopsy even in the presence of a benign nonsurgical biopsy.6,7 • benign conditions – fibroadenoma Feedback – fibrocystic change Breast magnetic resonance imaging (MRI) has no role in the – glandular parenchyma routine work-up of symptomatic breast lumps. It is used as a – cyst screening test in women at high genetic risk of breast cancer, – phyllodes tumour and it may be used to assess the extent of disease within the breast in women diagnosed with breast cancer. – abscess • malignant conditions Answer 4 – carcinoma There are two types of nonsurgical biopsy (fine needle biopsy and – malignant phyllodes tumour. core needle biopsy), and there is surgical (open/excisional) biopsy. • Fine needle biopsy – this is biopsy in which a thin needle (usually Answer 2 25G–22G) is used to remove cells from the abnormal area and The lump is discrete and firm; a fibroadenoma is the most likely smeared on a microscope slide for cytology assessment. The cause. Compared with a fibroadenoma, a cyst tends to be discrete procedure may be done under local anaesthetic although this is but softer, glandular parenchyma is less discrete, and an abscess often not required. If the lesion is palpable, the procedure may is usually discrete but would usually have a history of inflammation be clinically guided; if the lesion is not palpable ultrasound or with or without current lactation. Benign phyllodes tumours are rare stereotactic (mammographic guidance) can be used to ensure the and they usually present with features similar to a fibroadenoma. lesion is sampled accurately Phyllodes tumours are often large at presentation (>3–4 cm in • Core biopsy – a larger automated needle (usually 16G–14G) diameter).3 is used to remove small pieces of tissue from the abnormal area. The core samples are fixed in formalin for histopathology assessment. This test is always done under local anaesthetic. As with fine needle biopsy, this test can be performed under 4
check Breast symptoms Case 1 clinical guidance (for palpable lesions) or imaging (ultrasound or Feedback stereotactic) guidance (for impalpable lesions). A specialised type Breast biopsies are usually preformed by a breast physician or of core biopsy is vacuum-assisted core biopsy (VACB).8,9 This is radiologist; some surgeons (breast or general surgeons) also a sampling device with a larger gauge (usually 11G–10G). It uses perform biopsy. The choice of which professional the GP should a vacuum to help obtain larger samples. It is particularly accurate refer to is determined by several factors: the location of the for sampling mammographic microcalcification under stereotactic GP’s practice (metropolitan or rural); the patient’s preference; guidance.8,9 It can also be used under the guidance of ultrasound experience of the radiologist; and the most appropriate biopsy • Surgical (open/excisional) biopsy – some (or all) of the abnormal for the lesion. tissue is removed for histopathology assessment. This is the gold standard breast biopsy. This test is usually done under Answer 5 general anaesthetic although local anaesthesia is sometimes In Marie’s case, the biopsy confirmed a benign diagnosis possible for small, superficial lumps. If the abnormal area can’t of fibroadenoma. There are two options for management of be palpated easily, the area can be ‘localised.’ Localisation is fibroadenomas. The recommendation may depend on: a procedure used to mark the area for excision when it is not • the age of the patient palpable. This can be done by locating the lesion with ultrasound or mammogram and marking the area on the skin with a • the size of the lesion guidewire or a radioisotope injection. Localisation is done before • the symptoms the lesion is producing (eg. a lump, pain or anxiety) or during the operation and the surgeon removes the tissue that • the imaging and biopsy results. has been marked. The specimen can then be imaged with X-ray It is recommended that a fibroadenoma be removed if: or ultrasound to ensure that the lesion can be seen within the • it is >3 cm in diameter specimen. • it is causing symptoms such as pain Limitations and advantages of biopsy types are outlined below. • the biopsy result is concerning • Fine needle biopsy – a relatively quick procedure that can be performed in a few minutes and does not require any special • the woman is older than 40 years of age preparation. Sometimes this procedure does not collect enough • it is increasing in size while being monitored.7 material for a definitive diagnosis (inadequate sample) and As Marie is young, the lump is not painful, and she has a negative sometimes, even though cells are visible within the sample, the triple test, she could be managed conservatively. This would include results may not be able to confirm or exclude malignancy (atypical clinical examination and ultrasound at 6–12 months. Repeat sample). Bruising is a common adverse effect. Pneumothorax is a percutaneous biopsy or excision would only be indicated if the lesion serious but extremely rare complication of this procedure increases in size on follow up imaging. If the lesion is stable on • Core biopsy – removes pieces of tissue (rather than just cells surveillance over 1–2 years she could be dismissed from imaging as with fine needle biopsy) and therefore it is more likely to give surveillance until she reaches screening age (50 years).7 a definitive diagnosis. However, there is still a chance that this procedure may not give a definite answer and more tests may be Answer 6 required. It takes longer than fine needle biopsy (usually 20–30 Marie’s fibroadenoma does not increase her risk of developing breast minutes), always requires local analgesia and may be associated cancer.10 Fibroadenomas contain some normal breast tissue cells, with more discomfort and bruising. Often simple analgesia is and these cells can potentially develop cancer, like all the cells in required to manage discomfort. Pneumothorax is a serious but the breast. The chance of cancer developing within a fibroadenoma very rare complication with core biopsy as well is extremely small and is no higher than the chances of cancer • Surgical (open/excisional) biopsy – removes the lesion fully or developing anywhere in the breast.10 takes a large representative sample for histological assessment allowing for a definitive diagnosis. An additional benefit of this type of biopsy is that the entire lesion can often be removed so there may be no need for future concern and monitoring. However, surgical biopsy is a more invasive procedure and requires hospitalisation; it carries with it the risks associated with any general anaesthetic. The recovery is longer, with increased discomfort and surgery has the cosmetic disadvantage of leaving a scar on the breast. 5
Case 2 check Breast symptoms Question 2 Case 2 What are the clinical features of pathological nipple discharge? Elizabeth presents with nipple discharge Elizabeth is a patient who is well known to you. She has made an urgent appointment to see you about her nipple discharge. She is 52 years of age, obese and continues to smoke heavily, regardless of your encouragement to stop. Elizabeth is a mother of 3 children who she bottle fed. She has a paternal grandmother who had a mastectomy, although details of the history are not available. Elizabeth started attending BreastScreen when she turned 50 years of age and her most recent screen, 6 months ago, was normal. She is still menstruating but her cycle has become quite irregular over the past year. Question 3 Elizabeth presents with a discharge from her right nipple, List the causes of nipple discharge. describing it as ‘pinkish’. Upon further questioning, she says that this is a spontaneous discharge and she has noticed discolouration on her nightie. It happened last night and also once last week. It was a small amount, leaving a stain about the size of a 20 cent piece on her clothing. Elizabeth has never had any breast problems before and she is very concerned. On clinical examination, the breasts, including the nipples, have a normal appearance with no asymmetry, no dry or erythematous nipple skin, and no palpable lumps. On gentle expression of the nipple by the patient, a drop of pink fluid was noted coming from a single duct at the 11 o’clock position on the right nipple. There were no other abnormalities on examination. Question 1 Is nipple discharge always abnormal? Question 4 What investigations would you recommend for Elizabeth? Further Information You request a mammogram and ultrasound, and cytology of the discharge which all reported as revealing no abnormalities. 6
check Breast symptoms Case 2 Question 5 Answer 2 What is the next step in her management? Pathological nipple discharge has the following features: • blood stained, serous or crystal clear appearance • spontaneous occurrence without squeezing of the nipple or pressure on the breast • occurrence from a single nipple duct.12 Pathological discharge may be associated with other clinical findings such as a lump or a change in the shape or skin of the nipple. Answer 3 The causes of nipple discharge are outlined below.13,14 • Physiological discharge (as mentioned in Answer 1) • Duct ectasia – a benign condition, often occurring after menopause, due to the enlargement of milk ducts under the nipple and inflammation in the walls of the ducts. Usually, the discharge is bilateral, from more than one duct and will CASE 2 ANSWERS be coloured either yellow, green or brown. In most cases, no treatment is needed. If discharge is a nuisance, the ducts behind the nipple can be removed surgically Answer 1 • Duct papilloma – a growth within a milk duct that may remain The function of the breast is to lactate. Nipple discharge is asymptomatic, or may cause nipple discharge that is clear or therefore common and is usually part of a normal hormonal process blood stained and usually comes from a single duct, unilaterally. (‘physiological’ discharge). Fluid can be obtained from approximately Papillomas will often be seen on ultrasound and large ones may 50–70% of normal women when breast massage or breast pumps be palpable. Rarely, duct papillomas can be associated with are used.11 Pathological nipple discharge (caused by an abnormality breast cancer so they are usually removed surgically in the breast) is uncommon.7,12,13 • Nipple eczema or dermatitis – inflammation of the skin of the Physiological discharge has the following features: nipple, which can cause a weeping, crusty nipple with discharge • milky, yellow or green appearance if it becomes infected. The treatment is consistent with other eczema management and includes cortisone based topical • occurrence on expression only (ie. only when the nipple is applications as the main first line treatment squeezed or there is pressure on the breast such as with a mammogram) and does not occur spontaneously • Breast cancer or ductal carcinoma in situ – an uncommon, but important cause of nipple discharge. Less than 5% of women with • occurrence from multiple nipple ducts and often can be seen breast cancer have nipple discharge and most of them have other emerging from more than one duct. symptoms, such as a lump or a newly inverted nipple as well as Physiological discharge is normal and is no cause for concern. the discharge. Nipple discharge without other symptoms is a rare However, nipple discharge that is associated with other symptoms, presentation of breast cancer such as a lump in the breast, ulceration, or inversion of the nipple, • Paget disease of the nipple – a particular type of invasive or needs prompt investigation.7,13 in situ malignancy which involves the nipple, typically causing Physiological discharge, like lactation, is encouraged from repeated ulceration and erosion of the nipple skin, and may be associated stimulation or squeezing of the nipple. Women should be advised with a blood stained nipple discharge to stop expressing, and to refrain from squeezing ‘to see if the • Hormonal causes – galactorrhoea is a milky nipple discharge that discharge is still there’. This type of discharge will usually settle. is unrelated to pregnancy or breastfeeding and caused by the Women should be advised to return for investigation if the discharge abnormal production of prolactin. This can be caused by diseases becomes spontaneous, blood stained or has any of the other features within the glands controlling hormone secretion, such as the that suggest pathological discharge as mentioned in Answer 2. pituitary and thyroid glands • Drugs and medications – some medications can cause abnormally high prolactin levels and include oral contraceptives, hormone replacement therapy and medications such as metoclopramide, selective serotonin reuptake inhibitors and antipsychotics. Drugs, such as cocaine and stimulants, can also cause high prolactin levels. 7
Case 2 check Breast symptoms Answer 4 The clinical picture of spontaneous single duct discharge with a blood tinged (‘pinkish’) appearance suggests a pathological discharge. Elizabeth’s discharge must be investigated even though there are no other associated clinical abnormalities. Possible investigations include: • mammography – routine 2-view mammography; in addition, specialised magnification views behind the nipple may be helpful especially if she has dense tissue on mammography • ultrasound – the nipple ducts should be examined for solid intraductal lesions • percutaneous biopsy – if there is an abnormality on breast imaging • nipple fluid cytology – a small amount of fluid can be smeared on a microscope slide and sent for cytological assessment. (Cytology is not always essential and should not be pursued if expressing fluid is painful for the patient.) If abnormal cells are seen this may be helpful although the absence of atypical or malignant cells should not deter further assessment • ductogram – this is a specialised X-ray that outlines the duct system (looking for ‘filling defects’ following the injection of radio-opaque dye into the discharging duct. It is a painful procedure for women, and rarely changes management so this investigation has very few indications. Elizabeth should be referred for mammogram and ultrasound. If there is any abnormality on either of these tests, this should be assessed further with percutaneous biopsy. Cytology may be performed if there is adequate fluid. Ductography is not recommended in Elizabeth’s case. Answer 5 Further assessment is required for this discharge as it has a high likelihood of being caused by intraductal pathology even in the presence of normal imaging. The most likely diagnosis is a benign papilloma and these frequently are tiny and not seen on imaging.14 Elizabeth requires microdochectomy, which is surgical exploration and removal of the affected duct. It has been shown to be the best method for accurate diagnosis.15 In the hands of an experienced breast surgeon, this is usually a simple day surgery operation with minimal complications. It cures the symptom and also provides the full length of the duct for histopathology assessment. To minimise the risk of breast pathology in the future and for her general health, Elizabeth should be advised of the potential for increased risk of breast cancer related to smoking. Encouragement and advice regarding support networks may assist in her challenge to quit smoking.16 8
check Breast symptoms Case 3 Question 2 Case 3 Does Joanne need any investigations? Joanne’s lactational breast abscess Joanne is 31 years of age and comes to your practice with her 4 week old baby boy, Ethan. He is her first baby and she is fully breastfeeding. Joanne has been suffering significant discomfort in her right breast for the past week. She saw one of your colleagues in the practice 3 days ago with swelling, pain and redness in the upper outer quadrant of her right breast. He examined Joanne and found her to be afebrile and to have a 5 cm area of erythema and tenderness in her right breast and no palpable lump. He diagnosed mastitis and commenced her on oral flucloxacillin. Since then Joanne has continued to breastfeed with some difficulty. The localised pain has increased and Question 3 the erythema has not improved. She is now aware of a lump in the upper outer quadrant of her right breast and How would you manage Joanne’s condition? she has been unable to reduce the size of the lump with massage while feeding. She reports overwhelming fatigue, tearfulness, fevers and generalised ‘aches and pains’. Ethan seems to be attaching to the breast without difficulty and he is settling well after feeds. Joanne is concerned that the antibiotics she is taking may harm Ethan. On examination, Joanne appears flushed and has a temperature of 38.4°C with a tachycardia of 104 beats per minute. Joanne’s right breast appears generally swollen.There is a firm tender 2 cm lump in the upper outer quadrant, 4 cm from the nipple. There is overlying erythema. The skin is otherwise normal and the nipple has a normal appearance. There are soft tender lymph nodes palpable in the right axilla. Question 4 Should Joanne stop breastfeeding? Question 1 What is the likely diagnosis? What are the important differential diagnoses? Question 5 If Joanne was not lactating, how would your management differ? 9
Case 3 check Breast symptoms breast specialists are not easily accessible, the GP should request CASE 3 ANSWERS an ultrasound with a request for any pus found to be aspirated at the time by the radiologist. In some cases where an abscess is suspected, there will actually be no collection (ie. no abscess) so Answer 1 ongoing management would be with antibiotics. If an ultrasound is not easily accessible and a breast physician, breast surgeon and/or The likely diagnosis is a breast abscess. Although her original breast specialist is easily accessible, direct urgent referral without presentation with mastitis was managed appropriately, the clinical requesting an ultrasound that could potentially delay treatment, is picture of a lump and fever suggests that this has progressed to an recommended. abscess. Lactational breast abscess is characterised by the presence of a firm, localised, discreet lump associated with fever, intense Breast ultrasound is the imaging modality of choice because it tenderness and erythema. It is usually preceded by mastitis that does allows immediate aspiration and/or biopsy, and because in this not settle.17 case mammogram is of limited benefit due to the additional density caused by milk in the breast. A breast abscess typically appears on While a breast abscess is overwhelmingly the most likely cause, there ultrasound as a focal area of altered texture which is heterogeneous is danger in assuming that any breast problem that develops while and shows shadowing. This often has an indeterminate appearance breastfeeding is related to lactation. Symptoms must therefore be and can be difficult to distinguish from a malignant lesion on imaging thoroughly investigated if not improving as expected. alone. Correlation with the clinical picture is therefore crucial. If Differential diagnoses include:17 ultrasound suggests a collection of fluid/pus, it should be aspirated • mastitis – this condition typically emerges within the first few and sent for microscopy and culture. weeks of breastfeeding, with pain, erythema, swelling, lumps and Mammography is indicated in this situation if there is suspicion of fever18 malignancy on ultrasound (this is when mammography may help • periductal mastitis – an inflammatory condition that presents with determine the extent of disease and exclude contralateral pathology). nipple redness and discharge on the nipple or areola. It occurs in Joanne will need fine needle biopsy or core biopsy to complete the young women and is associated with smoking in 90% of cases triple test. If aspiration does not yield pus, core biopsy should be • granulomatous mastitis – a rare cause of inflammation in the performed. breast. A benign condition often characterised by a chronic Blood tests are unlikely to help with the diagnosis; they may show relapsing course which may be improved with oral steroids. It is elevated white cell count and C-reactive protein consistent with usually diagnosed on biopsy when a presumed case of bacterial infection. Management will be determined by the clinical examination mastitis does not respond to antibiotic treatment and ultrasound findings, and blood results are unlikely to change • inflammatory breast cancer – inflammatory cancer is a specific management. clinical presentation of breast cancer. Although it is rare, representing only 2.5% of all cases of breast cancers,19 it should Answer 3 be considered in the differential diagnoses of every inflammatory Joanne’s condition (lactational breast abscess) requires urgent breast condition, especially if it is not settling, as it has a management. particularly poor prognosis (less than 5% survival at 5 years).19 The classic presentation is one of rapid onset of an ill defined Aspiration or surgical drainage breast mass, pain, breast enlargement, erythema and peau Referral to a surgeon or breast physician is necessary to assess the d’orange. When an infective lesion does not resolve or does not option of aspiration versus surgical drainage of the breast abscess. behave as expected, the diagnosis of inflammatory breast cancer The traditional management of breast abscess is surgical incision and should be considered18–20 drainage. This requires admission to hospital, general anaesthetic, • lactating adenoma – a benign condition similar to fibroadenoma intravenous antibiotics and cessation of breast feeding. Surgical that develops during pregnancy and/or lactation. This usually management is now rarely needed when a breast abscess is presents with a clinical lump but is not normally associated with managed in a specialist breast unit.21 Most cases can be treated with inflammatory symptoms and signs. serial aspiration (by a breast physician, surgeon or radiologist) under local anaesthetic and ultrasound guidance in an outpatient setting.21 Answer 2 Often 3–4 aspirations are required; oral antibiotics are continued for several weeks and breastfeeding can continue. Joanne is systemically unwell and must be investigated urgently. She has a breast condition that is not improving as expected and it should Antibiotic therapy be assessed with the ‘triple test’ approach. The causative organism in mastitis and breast abscess is most There are two options depending on access to ultrasound facilities frequently Staphylococcus aureus. Mastitis is treated with a minimum and access to a breast physician, breast surgeon and/or breast of 10 days of oral antibiotics; either flucloxacillin or dicloxacillin specialist. Where ultrasound facilities are easily accessible and where (dosage 500 mg 4 times per day).22 Cephalexin (dosage 500 mg 10
check Breast symptoms Case 3 4 times per day) is not the antibiotic of choice but is an alternative Answer 5 when there is penicillin allergy (excluding immediate hypersensivity). Mastitis is uncommon in the absence of lactation but it can occur. It Longer courses of antibiotics (sometimes 4–6 weeks) are required for can be caused by cysts that become infected, or may be related to a breast abscess. Admission to hospital for intravenous antibiotics is periductal mastitis or granulomatous mastitis (described in Answer1). warranted if there is high fever or rigors, even if the abscess is being Mastitis unrelated to lactation must be investigated fully with imaging, managed with serial aspiration rather than operative management.21 and often a biopsy, and followed to complete resolution to ensure that Pus should be sent for microscopy and culture when aspiration it is benign. Inflammatory breast cancer should be considered (and is performed. Occasionally anaerobic organisms are found and excluded with investigation) in this setting.24 antibiotics such as metronidazole are required. Lactation support Breastfeeding should be encouraged to continue when mastitis and breast abscess are present (except in the case of a breast abscess treated with surgical drainage).17,23 This may come as a surprise to Joanne who may be concerned that pus in the breast and/or antibiotics in the milk will harm the baby. Joanne should be reassured that neither of these will harm the baby, and be advised to continue feeding, as this will empty the breast more effectively than using a breast pump. If she wishes to wean the baby this is best done slowly after the abscess has resolved rather than suddenly when there is infection and further engorgement will aggravate the problem. Attachment of the infant to the breast should be checked. Joanne should be advised to use hot packs before feeding and cold packs after feeding. She may require analgesia. She should also be encouraged to drink plenty of fluids and obtain adequate rest, as both may impact upon breast feeding.23 Joanne may need referral to a lactation consultant.21,23 General psychological support Joanne is at high risk for postnatal depression. She is likely to be exhausted as the fatigue associated with caring for a newborn is exacerbated by her infection. Women with severe mastitis and/or breast abscess often feel a sense of failure and may need reassurance that these are common conditions and that mastitis/breast abscess is not a result of anything they have done wrong with feeding. Rather, they are usually simply a reflection of breast anatomy resulting in a segment of the breast that doesn’t drain as effectively as the rest. Reassurance that the abscess is unlikely to recur once it heals and that it is uncommon when feeding subsequent babies may help. She should be encouraged to ask her partner, family and friends to help in order to maximise the amount of rest she can obtain. Answer 4 As discussed in Answer 3, Joanne should be advised to continue breastfeeding with support and reassurance that this will lead to the best outcome for her and Ethan. If she chooses to stop breastfeeding this decision should be respected and supported, but she may be advised to wait to stop breastfeeding until after the breast abscess has resolved, as well as given advice on how to express, and to very slowly reduce the volume and frequency of expressing. There is rarely an indication for the use of bromocriptine or other medications to suppress lactation. 11
Case 4 check Breast symptoms Case 4 Kate has pain in her left breast Kate is 41 years of age, and presents with pain in the lateral aspect of her left breast. It has been coming and going for the past few months. Kate grades the severity of the pain at 6 out of 10 when it is present and she has been managing the pain with simple analgesia and occasional Question 3 heat packs with good effect. She wants to make sure there is nothing more serious causing her symptoms and she What are the differential diagnoses for this presentation? would also like a plan for managing the pain in the future. Kate’s breast pain does not vary during her menstrual cycle. It affects the upper, outer quadrant of the left breast and radiates into the left axilla. She does not report any breast lumps, nipple discharge or other symptoms. Kate is otherwise well, with a history of some mild bilateral cyclical breast discomfort in her twenties and some mild asthma, which is well controlled. She has no children and has been taking the oral contraceptive pill for over 20 years without side effects. Kate has no family history of breast or ovarian cancer and has never had any breast investigations. On clinical examination, Kate is tender in a localised Question 4 region, 4 cm in diameter in the 2 o’clock position in the Does the presence of mastalgia increase the risk of breast cancer? left breast 10 cm from the nipple. Breast examination is otherwise normal, with no nipple inversion, palpable lumps or lymphadenopathy. Question 1 What are the key features to ask about when taking a history in cases of breast pain? Question 5 Does Kate need any investigations? Question 2 How is mastalgia classified? Could this be breast cancer? Further information You request a mammogram and breast ultrasound which are both normal. 12
check Breast symptoms Case 4 Question 6 Answer 2 What is the likely diagnosis? Mastalgia is classified as cyclical or noncyclical according to its association with the menstrual cycle.26 Cyclical mastalgia accounts for most breast pain and typically occurs in younger women (median age onset of 36 years) during the second half of the cycle, resolving with the onset of menstruation. It is typically reported as fullness, is usually bilateral, and commonly affects the upper outer quadrants. It is often associated with fibrocystic changes and/or duct ectasia. Noncyclical mastalgia may occur at any stage of the menstrual cycle and usually does not vary during the cycle. It may be continuous or intermittent and is often unilateral or localised to one part of the breast. The median age of onset is 41 years of age. It is more likely Question 7 to be associated with breast pathology (such as a cyst) than cyclical mastalgia. What are the management options for Kate? Answer 3 The differential diagnoses for this condition are: • mastalgia – a chronic condition, lasting more than 5 years in most cases. Spontaneous resolution is more common with noncyclical mastalgia (which occurs in 40% of cases) than with cyclical mastalgia (14% of cases)27 • non breast pain – pain felt in the breast but originating from other chest structures, such as the lungs, heart or abdomen (typically gall bladder) and chest wall. Tietze syndrome (chostochondritis) is common, with point tenderness over the costochondral junction • localised benign breast lesion – cyst, fibrocystic change, localised nodular parenchyma, fibrocystic change CASE 4 ANSWERS • breast cancer – rarely presents with breast pain alone in the absence of other symptoms. Only about 5% of breast cancer cases present in this manner.26 Answer 1 The history in a woman with mastalgia should include asking about:25 Answer 4 • the part of the breast/s affected (localised or generalised, While there is some evidence that cyclical mastalgia may be an unilateral or bilateral) independent risk factor for breast cancer, further studies are needed to clarify the magnitude of risk.28 The risk of breast cancer may • duration of the pain increase as the number of menstrual cycles associated with breast • exacerbating and relieving factors (including therapies trialled for pain rises. There is now also good evidence that dense breast tissue symptoms) is an independent risk factor for breast cancer and this type of tissue • relationship to menstrual cycle and regularity of menstrual cycle may be more likely to be associated with pain. • presence of associated symptoms such as lump or nipple discharge Answer 5 • general breast and reproductive history, including past history Any new breast symptom should be appropriately investigated using of breast surgery or biopsy, and hormonal factors such as the triple test approach which consists of:6,13 parity, breastfeeding and use of the oral contraceptive pill and • thorough history and clinical breast examination hormone replacement therapy. In women aged 50 years or older, • breast imaging: bilateral ultrasound and/or bilateral mammogram, attendance for breast cancer screening should be noted depending on the age of the women and the clinical findings: • family history of breast and ovarian cancer. – women aged younger than 35 years – bilateral breast ultrasound, and bilateral mammogram if there are suspicious features on ultrasound 13
Case 4 check Breast symptoms –w omen aged between 35 and 50 years of age – bilateral – bromocriptine is one of the traditional treatments for mastalgia mammogram plus bilateral breast ultrasound and it is extremely effective, but its use is limited by side effects –w omen aged over 50 years – bilateral mammogram with the (nausea, dizziness and headaches) which occur in up to 20% of addition of bilateral ultrasound if the mammogram is normal or patients, so it is rarely used unhelpful in the presence of a clinical abnormality – for severe cases of mastalgia that interfere with lifestyle, there • nonsurgical (percutaneous) biopsy (fine needle biopsy or core are strong hormonal medications which are usually prescribed needle biopsy) if there is an abnormality on clinical examination by a breast specialist such as danazol 200 mg daily only in the or imaging. luteal phase (days 14–28);32 tamoxifen 10 mg daily for 3–6 months.33 The triple test has an accuracy of over 99% in excluding malignancy.28 Answer 6 The most likely diagnosis in Kate’s situation is noncyclical mastalgia. The imaging findings suggest that no underlying pathology is present. Answer 7 Management options include:5,29 • reassurance (after appropriate investigation) that symptoms are not caused by cancer. Often no further management is needed once malignancy has been excluded and patient anxiety is reduced • simple analgesia (eg. paracetamol) • topical anti-inflammatory medication (eg. diclofenac gel) • a well fitting bra can significantly reduce breast pain especially during exercise. Women should be encouraged to have an expert bra fitting. There is no evidence that underwire bras cause damage to breast tissue. Sports bras often provide good comfort and support • Other treatments: – e vening primrose oil is helpful for many women.30 Although it has not consistently been shown to be more effective than placebo in randomised trials, the placebo effect in these trials was particularly strong.29 A dose of 1000 mg 2–3 times daily is recommended if a trial of treatment is planned – reducing caffeine intake and using supplements such as vitamin B1, vitamin B6 and vitamin E have no strong evidence to improve symptoms, but some women may find it beneficial – relaxation therapy, acupuncture and applied kinesiology have been tried but their role remains unclear • prescription medications31 – these are rarely indicated for mastalgia. When pain is significantly interfering with lifestyle (including sleep, exercise and sexual intimacy) consideration can be given to using medication. Some of the prescription medications have significant side effects and their use needs to be monitored in conjunction with a specialist. Possible options are: – o ral contraceptive pill (with lowest possible oestrogen dose), which is effective for some women 14
check Breast symptoms Case 5 Further information Case 5 You arrange for Barbara to undergo assessment with the triple Does Barbara have breast cancer? test. Barbara’s mammogram demonstrates a 10 mm spiculated lesion with microcalcification, her ultrasound demonstrates a Barbara, 48 years of age, comes to see you about a lump 12 mm irregular solid mass and there is no evidence of axillary in her left breast. She noticed it 1 week ago while in the lymph node involvement on her mammogram and ultrasound. shower, performing her regular breast self examination. She has no associated symptoms such as pain, skin You refer Barbara to a breast surgeon who arranges a changes or nipple discharge and she is otherwise core biopsy which reveals invasive ductal carcinoma. She well, with no significant medical history. She eats well, discusses this with Barbara and then performs wide local exercises regularly, drinks no alcohol, and has a body excision (lumpectomy) and sentinel lymph node biopsy. mass index of 24 kg/m2. Barbara’s operative histopathology report shows a 12 mm unifocal invasive ductal carcinoma with clear margins and Barbara has two daughters and a son, all aged in their micrometastases in two of four axillary sentinel lymph nodes. 20s, who were all breastfed for 6 months. Barbara’s The tumour is oestrogen receptor (ER), progesterone receptor menarche was at 13 years of age and she now uses (PR) and human epidermal growth factor receptor 2 (HER2) the levonorgestrel releasing intrauterine device for positive. contraception and to control heavy periods. Barbara had an episode of mastitis while breastfeeding but Question 2 has otherwise never had any breast problems and she has never had any breast investigations. Barbara’s maternal What is a sentinel lymph node biopsy? grandmother had a mastectomy in her 70s. On examination, the breasts appear symmetrical with no signs of inflammation, nipple inversion or skin tethering. The lump is palpable in the left breast in the 11 o’clock position, 5 cm from the nipple and Barbara mentions that it is tender. The lump is 1 cm in diameter, hard and irregular. There is no lymphadenopathy in the supraclavicular and axillary fossae and no abnormality on examination of the contralateral breast. Question 1 What are the risk factors for breast cancer? Does Barbara have any risk factors for breast cancer? Question 3 What do ER, PR and HER2 receptor status mean and what does their presence imply for prognosis? 15
Case 5 check Breast symptoms Question 4 What are the common sites for breast cancer metastasis? Does CASE 5 ANSWERS Barbara need scans to look for metastatic disease? Answer 1 The risk factors for breast cancer are: • female gender • increasing age • nulliparity • lack of breastfeeding • increasing body mass index • personal history of proliferative benign breast disease • dense breasts on mammography Question 5 • greater oestrogen exposure (early menarche, late menopause, use What further treatment would you recommended for Barbara? of hormone replacement therapy) • smoking • alcohol intake • family history of breast and/or ovarian cancer (BRCA mutations).34,35 Barbara is female and over 40 but has no other risk factors. Use of the levonorgestrel releasing intrauterine device does not affect her risk, and the family history she reports does not increase her personal risk of breast cancer. See Case 6, particularly Answer 4 where details for risk associated with family history are discussed.36 Question 6 Answer 2 Barbara is concerned about her daughters’ risk of breast cancer. Sentinel lymph node biopsy is a technique for staging the axilla What do you advise her? in women with early breast cancer. It involves identification of the lymphatic drainage of the lesion (usually with a combination of lymphoscintigraphy and blue dye injection) and surgical removal of only these nodes, leaving the remainder of the axilla intact. Sentinel lymph node biopsy has been shown to accurately identify the presence or absence of axillary lymph node involvement with a lower rate of lymphoedema, shoulder stiffness and other complications than full axillary lymph node dissection.37–40 When malignant cells are found in the sentinel node or nodes, the standard management is to remove the remaining axillary nodes (full axillary lymph node dissection). There is some evidence to show that in highly selected cases it may be possible to omit full axillary node dissection.41 Sentinel lymph node biopsy has only been proven to be safe in women with unifocal tumours less than 3 cm in diameter. Larger and/or multifocal/multicentric tumours are increasingly also being treated with this approach but this should be done with caution.42 Answer 3 The presence of oestrogen receptors (ER positive tumours) and progesterone receptors (PR positive tumours) means that the tumour relies on these hormones for growth. Cancers that are ER positive generally have a better prognosis than those that are ER negative. 16
check Breast symptoms Case 5 They can be treated with adjuvant hormone blocking drugs (tamoxifen Based on the available information, genetic testing would not be or aromatase inhibitors) which further improves the prognosis. The recommended in this family as the risk of there being a gene majority of breast cancers (around 75%) are ER positive.43 mutation is very low. This may change if more relatives are diagnosed Human epidermal growth factor receptor 2 is a receptor for growth with breast cancer, or if Barbara develops bilateral breast cancer, if factors on the surface of the cells – HER2 positive tumours are less there is Ashkenazi Jewish ancestry, or if there is ovarian cancer in the common, accounting for around 15% of early breast cancers.44,45 family.36 The presence of HER2 implies a worse prognosis, however, ‘targeted therapies’ against these receptors are now available and have revolutionised the management of this subgroup of cancers.44,45 The first targeted agent was trastuzumab; now a range of other drugs to block HER1, HER2 and/or HER3 receptors are becoming available.46–48 Answer 4 The common sites of metastasis from breast cancer are bone, liver, lung and brain. Routine staging scans with computed tomography (CT), bone scan and/or positron emission tomography (PET) are not recommended in cases of early breast cancer.49 The incidence of occult metastatic disease that will be detected on these scans in women with stage I or II breast cancer and fewer than four positive lymph nodes is less than 1%. In women with more advanced stages of disease or with more than four axillary lymph nodes involved, the incidence is higher and in this group staging should be considered.50 Answer 5 Barbara is likely to require: • further surgery to the axilla (full axillary node dissection). Radiotherapy (rather than surgery) to the axilla may also be an option • chemotherapy and trastuzumab as her tumour is HER2 positive and she is lymph node positive • radiotherapy to the breast to reduce the risk of local recurrence following breast conservation surgery • adjuvant endocrine therapy for at least 5 years (as her tumour is ER positive). This is likely to consist of tamoxifen as she was premenopausal at diagnosis; this may be changed to an aromatase inhibitor if she is postmenopausal following chemotherapy • staging scans such as CT scans of the chest, abdomen and pelvis or a bone scan or PET are unlikely to be indicated if no further positive nodes are found as her risk of metastatic disease would be extremely low.49 If Barbara has more extensive disease found in the axilla, this clinical decision would be reviewed. Answer 6 Barbara’s daughters are in the ‘moderate (intermediate) risk’ group for breast cancer as their mother was diagnosed with breast cancer before the age of 50. Their risk of breast cancer up to age 75 is between 1 in 8 and 1 in 4. This risk is 1.5–3 times the population average. They could be advised to have annual screening mammography from the age of 40.36 17
Case 6 check Breast symptoms Case 6 Jacinta is concerned she’s at risk Jacinta is 31 years of age and has come to you for a breast check and to discuss her family history. She is shocked and upset because her older sister has just been diagnosed with breast cancer at the age of 33. Jacinta is Question 4 healthy and has no particular health concerns or breast What are the three categories of breast cancer risk based on family symptoms. Her family history includes a paternal aunt history? In which category does Jacinta’s family history place her? who underwent treatment for breast cancer at the age of Would her risk be higher if she had breast cancer on her maternal 48, and had both breasts removed, as well as a paternal side of the family rather than her paternal side? grandmother who had both breasts removed for bilateral cancer, with her first breast cancer diagnosis at the age of 45. Jacinta is of Irish descent. Question 1 What proportion of breast cancer is due to an inherited risk? Question 2 In which genes are there inherited mutations that are associated with a high risk of developing breast cancer? Are there any other cancers associated with these gene mutations? Question 5 What is a familial cancer clinic? Should Jacinta be referred to a familial cancer clinic? Question 3 What information in the family history is used to estimate breast cancer risk? 18
check Breast symptoms Case 6 Question 6 If Jacinta’s sister is found to carry a BRCA1 gene mutation, what are CASE 6 ANSWERS the chances that Jacinta carries the same mutation? Answer 1 Up to 5% of breast cancers develop because of an inherited gene mutation. The remaining 95% are not related to an inherited gene mutation. Less than 1% of the population carries a mutation that puts them at high risk of breast cancer.36 As breast cancer is common, many women have an affected relative, so a family history does not always imply high risk. Answer 2 Question 7 The genes in which mutations are associated with a high risk of If Jacinta carries a BRCA1 gene mutation, what are her options for breast cancer are outlined below.36 managing her risk? How effective are these strategies? BRCA1 • Risk of breast cancer of 40–80% to the age of 75 • Associated risk of ovarian/fallopian tube cancer 10–60% to the age of 75 • A ssociated possible small risk of prostate cancer in males who carry the mutation. BRCA2 • Risk of breast cancer of 40–80% to the age of 75 • Associated risk of ovarian/fallopian tube cancer 10–40% to the age of 75 • A ssociated risk of prostate cancer, male breast cancer and pancreatic cancer. Tp53 (Li-Fraumeni syndrome) • Risk of breast cancer >50% • Associated risk of bone or soft tissue malignancy Question 8 • Associated brain, lung, adrenal gland, haematological and other What are the indications for breast MRI in high risk women and in the malignancy. general population? Answer 3 Features of the family history that may indicate a potentially high risk of breast cancer include: • family member with a confirmed BRCA1 or BRCA2 gene mutation • multiple family members affected by breast or ovarian/fallopian tube cancer. Enquire about the type of cancer (including histological details if available); ‘triple negative’ and ‘basal-like features’ – in breast cancer these may suggest BRCA1 mutation; epithelial ‘serous’ ovarian cancer or fallopian tube cancer – these may also may be associated with gene mutations • the number of relatives affected by cancer and side of family (maternal or paternal may equally affect risk) • relationship to patient (first or second degree relatives) • age at onset of cancer (higher risk under the age of 40) • other high risk features: 19
Case 6 check Breast symptoms – cases of bilateral breast cancer Jacinta has: – cases of breast and ovarian/fallopian tube cancer in the same • one first degree relative diagnosed with breast cancer under the woman age of 40 (her sister) – male breast cancer • two second degree relatives diagnosed before the age of 50 (aunt – Ashkenazi Jewish ancestry and grandmother) on the same side of the family (paternal) • other types of cancer in the family (eg. prostate, bone, soft tissue). • a potentially high risk feature (bilateral breast cancer in her grandmother). Answer 4 This assesses her as being Category 3 – potentially high risk. Category 1: Population risk36 Jacinta’s risk would be no more or less significant for a maternal versus a paternal family history. • Risk of breast cancer up to age 75 is 1 in 11 to 1 in 8 (no more than 1.5 times the population average) As well as written resources available online, the National Breast and Ovarian Cancer Centre has an individualised risk assessment tool • More than 95% of women are in this group (see Resources).36,52 • No confirmed family history of breast cancer, or • Family history of breast cancer in: Answer 5 – o ne first degree relative at age 50 or older A familial cancer clinic is a specialised clinic that provides – one second degree relative at any age information, support and guidance to people who have a personal or family history of cancer. As well as being able to map out the – two second degree relatives on the same side of the family pedigree in detail, cancer geneticists can often help find out diagnosed at age 50 or older pathology information from hospitals to confirm the history and – two first or second degree relatives at age 50 or older on communicate with other clinics in Australia and internationally if different sides of the family. relatives have been assessed in different places. Category 2: Moderately increased risk36 If appropriate, genetic testing may be offered. This usually involves • Risk of breast cancer up to age 75 is 1 in 8 to 1 in 4 (1.5–3 first performing a blood test on a relative who has been affected times the population average) by cancer. If a mutation is found on searching for the BRCA 1 and • Less than 4% of women are in this group BRCA2 genes in the relative, then other unaffected relatives can • A family history of breast cancer occurring in: easily be tested to see if they carry the same mutation. However, it is quite common for genetic testing results to be inconclusive, which – one first degree relative before the age of 50 means that even when there is a strong suspicion of an inherited – two first degree relatives on the same side of the family mutation in a person affected by cancer, it is not identified on testing. – two second degree relatives on the same side of the family with Jacinta should be referred to a familial cancer clinic. Due to her at least one having been diagnosed under the age of 50 sister’s young age and family history it is likely that she will be – a bsence of potentially high risk features (see Category 3 below). referred to a clinic during her treatment and Jacinta could wait for Category 3: Potentially high risk36,51 the outcome of her assessment. • Risk of breast cancer up to age 75 is 1 in 4 to 1 in 2 (may be The general indication for referral is a person in Category 3 who more than 3 times the population average) would like more information about their individual risk (or the risk for others in her family). Other indications include a diagnosis of breast • Less than 1% of women are in this group cancer at a very young age (under age 30) even in the absence of a • Family history of breast cancer occurring in two first or family history, a diagnosis of breast cancer in anyone of Ashkenazi second-degree relatives on the same side of the family, plus Jewish heritage and a history of multiple non breast/ovarian cancers one or more of the following features: (as well as breast/ovarian cancers) in the family. As well as providing – additional relatives with breast or ovarian cancer patients with information about their personal risk and considering – a relative with both breast and ovarian cancer the option of genetic testing, a familial cancer clinic can give advice on screening and risk reducing strategies, including addressing the – breast cancer affecting both breasts increased risk of ovarian cancer if identified. Some familial cancer – breast cancer diagnosed before the age of 40 clinics also run ‘high risk’ clinics that provide multidisciplinary cancer – Ashkenazi Jewish ancestry care with screening and risk management strategies. – breast cancer in a male relative The GP can provide some counselling while the patient is awaiting – a relative who has tested positive for a high risk gene mutation an appointment at a familial cancer clinic. The implications of genetic (eg. a mutation in BRCA1 or BRCA2). screening on obtaining insurance, disclosure of results to other family members, and screening with imaging can be outlined. 20
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