Update on the imaging features of the enchondromatosis syndromes.
Chondrosarcoma
Enchondroma
Enchondromatosis
Maffucci syndrome
Ollier disease
Journal
Skeletal radiology
ISSN: 1432-2161
Titre abrégé: Skeletal Radiol
Pays: Germany
ID NLM: 7701953
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
13
03
2021
accepted:
14
07
2021
revised:
12
07
2021
pubmed:
25
7
2021
medline:
22
2
2022
entrez:
24
7
2021
Statut:
ppublish
Résumé
Ollier disease and Maffucci syndrome are the commonest enchondromatosis subtypes, arising from non-hereditary mutations in the IDH1 and IDH2 genes, presenting in childhood and being characterised by multiple enchondromas. Maffucci syndrome also includes multiple soft tissue haemangiomas. Aside from developing bony masses, osseous deformity and pathological fracture, ~ 40% of these patients develop secondary central chondrosarcoma, and there is increased risk of non-skeletal malignancies such as gliomas and mesenchymal ovarian tumours. In this review, we outline the molecular genetics, pathology and multimodality imaging features of solitary enchondroma, Ollier disease and Maffucci syndrome, along with their associated skeletal complications, in particular secondary chondrosarcoma. Given the lifelong risk of malignancy, imaging follow-up will also be explored. Metachondromatosis, a rare enchondromatosis subtype characterised by enchondromas and exostoses, will also be briefly outlined.
Identifiants
pubmed: 34302201
doi: 10.1007/s00256-021-03870-0
pii: 10.1007/s00256-021-03870-0
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
747-762Informations de copyright
© 2021. ISS.
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