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Hereditary Cancer in Clinical Practice
Published in: Hereditary Cancer in Clinical Practice 4/2004

Open Access 01-12-2004 | Review

Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management

Authors: Liesbeth Hameetman, Judith VMG Bovée, Antonie HM Taminiau, Herman M Kroon, Pancras CW Hogendoorn

Published in: Hereditary Cancer in Clinical Practice | Issue 4/2004

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Abstract

Multiple Osteochondromas is an autosomal dominant disorder characterised by the presence of multiple osteochondromas and a variety of orthopaedic deformities. Two genes causative of Multiple Osteochondromas, Exostosin-1 (EXT1) and Exostosin-2 (EXT2), have been identified, which act as tumour suppressor genes. Osteochondroma can progress towards its malignant counterpart, secondary peripheral chondrosarcoma and therefore adequate follow-up of Multiple Osteochondroma patients is important in order to detect malignant transformation early.
This review summarizes the considerable recent basic scientific and clinical understanding resulting in a multi-step genetic model for peripheral cartilaginous tumorigenesis. This enabled us to suggest guidelines for clinical management of Multiple Osteochondroma patients. When a patient is suspected to have Multiple Osteochondroma, the radiologic documentation, histology and patient history have to be carefully reviewed, preferably by experts and if indicated for Multiple Osteochondromas, peripheral blood of the patient can be screened for germline mutations in either EXT1 or EXT2. After the Multiple Osteochondroma diagnosis is established and all tumours are identified, a regular follow-up including plain radiographs and base-line bone scan are recommended.
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Metadata
Title
Multiple Osteochondromas: Clinicopathological and Genetic Spectrum and Suggestions for Clinical Management
Authors
Liesbeth Hameetman
Judith VMG Bovée
Antonie HM Taminiau
Herman M Kroon
Pancras CW Hogendoorn
Publication date
01-12-2004
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 4/2004
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-2-4-161

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