Degenerazione maligna nella malattia delle esostosi multiple e m. di Ollier e Maffucci
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Azienda Ospedaliero
Universitaria
Careggi
Degenerazione maligna
nella malattia delle esostosi multiple
e m. di Ollier e Maffucci
Prof Domenico Andrea Campanacci
Direttore
SOD ORTOPEDIA ONCOLOGICA E RICOSTRUTTIVA
AZIENDA OSPEDALIERA UNIVERSITARIA CAREGGI, FIRENZE
Multiple Hereditary Exostoses
Autosomal dominant disorder
Almost complete penetrance (95%)
1 /50.000
MHE
slightly short stature, growth deformities of bones, and multiple
cartilage-capped bony exostoses that develop on the metaphyses of
long bones and other sites including ribs and vertebrae
K. B. Jones et al, Connect Tissue Res 2014
Hereditary Multiple Exostoses (MHE)
2013
Intermediate
Severe Mild
143 patients
(65 HME families)
EXT1 genotype > number of
exostoses EXT2 genotype
(p 0.006)
Male patients EXT1 > exostosis upper limb than female & EXT2
Clement ND et al, Scottish Medical Journal, 2014
Donna 35 aa, claudicatio vascolare
Angio RMN Ostruzione cronica dell’art. poplitea
Deformities
Knee 33% Ankle 50%
Hip 25% Rixx A et al, Acta Orthopædica Belgica, 2013
Shortening of the ulna, higher curved radius & disturbed
proximal pronation, subluxation or dislocation of the radial
head & Madelung deformity
25% pts
40-74% pts 30-70%
7%
Rixx A et al, Acta Orthopædica Belgica, 2013Hereditary Multiple Exostoses (MHE)
Secondary Peripheral
ChondrosarcomaPeripheral CHS
> 1.5 cm
MRI recommended90% grade 1 CHS (OS > 90% 5 yrs)
10% dedifferentiated chondrosarcomas (OS 24% 5 yrs)
Hereditary Multiple Exostoses (MHE)
Secondary peripheral chondrosarcoma
Czajka and Dicaprio, 2014
Sonne-Holm et al., 2014
No consensus in the
literature
From < 1% to 25%529 pts from two different European MHE referral centers
Malignant trasformation in 5%
• Not significantly linked to EXT mutations, sex, severity of
disease (mild, intermediate, severe) or numbers of skeletal
sites with exostoses
• More frequently in pelvis, scapula, proximal femur
• Principally in individuals with a positive family historyEXT1 mutation related to significantly worse phenotype; F>M in Class I and M>F in Class III; p
757 pts, 41 countries
2.7%283 pts
Malignant trasformation in 184 adults pts
7%88% adults and 48% children required at least one surgical procedure
Hereditary Multiple Exostoses (MHE)
Secondary G1 Peripheral
Chondrosarcoma in paediatric age
Pre-operative MR
Stir T2Pre-operative TC
Post-operative MR, stir
Hereditary Multiple Exostoses (MHE)
Secondary G1 Peripheral
Chondrosarcoma in paediatric age
Female 9 yrs, histologySegni istologici di malignità:
- Ipercellularità
- Nuclei rigonfi
- Pleiomorfismo
- Doppi nuclei
Situazioni cliniche dove questi segni
sono compatibili con la benignità:
- Età pediatrica
- Lesioni della mano e del piede
- Condromi periostei
- M Ollier
- M Maffucci
- Condromatosi sinovialePatologie benigne che possono esprimere aspetti
istologici di malignità
- Tumori cartilaginei di mani e piedi
- Tumori cartilaginei in età infantile
- Condromi periostei
- Sindrome di Ollier
- Sindrome di Maffucci
- Condromatosi sinovialeHereditary Multiple Exostoses (MHE)
Multiple Osteochondromas & Intraosseous Atypical
Chondroid Tumor or Chondrosarcoma Grade 1
• From 195 adults patients from the nationwide Ducth tertiary referral center for MHE
• Not metachondromatosis (genetic testing positive for MHE)
• Clinically, radiografically and pathologically consistent with atypical cartilaginous tumor
or Chondrosarcoma WHO grade 1 (WHO guidelines of 2013 for diagnosis)
• Seven patients identified (3.6%)Multiple Osteochondromas & Intraosseous Atypical
Chondroid Tumor or Chondrosarcoma Grade 1
Incidence of 3.6% (7/195)
Treatment
“However, on the basis of the study
• Extended curettage (high-speed burr and
design, the true incidence of
phenolization) 5 pts
central cartilagineous tumor in
• Wide en-bloc resection 1 pts
patients with MHE is unknown,
• Scheduled for surgery 1 pts
and only the incidence of what the
authors believed were malignant
- No complications occurred
central chondroid tumors is
- No local recurrence (mean FU 48 months, range
included in this study.”
12-144 months)
Temple T., 2015 Commentary on
- Five pts (71%) also had a total of 7 secondary
the article by Goud et al.
peripheral chondrosarcomas during follow-upgrade 1 CHS in MHE
Enchondromatosis
Pansuriya et al.Enchondromatosis
Ollier disease and Maffucci syndrome
Malignant degeneration
Secondary central chondrosarcoma
Incidence highly variable, estimated to occur in
5-50% of cases (literature)
Others non-skeletal malignancies reported:
• Ollier disease: gliomas, juvenile granulosa cell tumors, non-small cell lung cancer;
• Maffucci syndrome: pancreatic and hepatic adenocarcinoma, mesenchymal
ovarian tumors, brain tumors (glioma and astrocytoma), acute myeloid leukemia,
and various kinds of sarcomas.21 yrs old girl Sled runner track
Asymptomatic
Bone scan +
scapula and humerus
Diagnosis:
Ollier diseaseSled runner track
Male, 46 y.o.,
humeral
pathological fxt,
Ollier Disease...
HG sarcomaSecondary central chondrosarcoma
Herget et al. Neoplasma 61, 4, 2014Herget et al. Neoplasma 61, 4, 2014
161 pts from 13 European centers
144 Ollier and 17 Maffucci pts
• Group I (enchondromas in the hand and feet only) 18%
• Group II (long bones including scapula and pelvis only) 39%
• Group III (Both small and long/flat bones) 43%Secondary central chondrosarcomas
Only 50% of the patients had their first event before the
age of 35 yrsSecondary central chondrosarcomas Cumulative probability of secondary transformation over a lifetime is different according to distribution patterns of enchondroma
Secondary central chondrosarcomas
Site and histological grade
TOTAL 87 CHS
48 pts (72%) one CHS
18 pts (27%) two to four CHS
(33% synchronous, 56%
Higher
metachronous, 11% unknown) risk site:
PELVIS
The odds ratio associated with enchondroma of the pelvis was
3.8, with a 95% CI of 1.8–8.0 (p.001)
Histological grade:
• Grade I 52%
• Grade II 32%
• Grade III 6%
• Unknow grade 10%Secondary central chondrosarcomas
Type of surgery
• Intralesional curettage +/- adjuvants 24 (29%)
• Resection 46 (55%)
• Amputation 13 (16%)
• No surgery 5 (6%)
• + post-operative radiation therapy in 2 ptsEnchondromatosis
Disease-related mortality
Chondrosarcomas-related
deaths:
• Polmonary METS
• 8 pts/161
• 8 pts / 66CS (12%)
• 57 months (mean time to death
from first surgery for CHS)
• Mean age 44.5 yrs (range 29.2-
58.9)
Non chondrosarcoma-related
deaths:
• Hepatic carcinoma (1), glioma (2)
• 3 pts/161Conclusioni
Rischio di degenerazione maligna:
- Malattia delle esostosi multiple:
Età adulta: da 2.7 a 7%
Età pediatrica: eccezionale
- Malattia di Ollier: 40-46%
- Malattia di Maffucci: 53-55%
Età pediatrica nel 7% dei casi di condrosarcomi su
Ollier e MaffucciGrazie
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