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

Hereditary Cancer in Clinical Practice

Pancras CW Hogendoorn²  Herman M Kroon¹  Antonie HM Taminiau³  Judith VMG Bovée²  Liesbeth Hameetman² 

[1] Department of Radiology, Leiden University Medical Centre, Leiden, The Netherlands;Department of Pathology, Leiden University Medical Centre, Leiden, The Netherlands;Department of Orthopaedic Surgery, Leiden University Medical Centre, Leiden, The Netherlands

关键词: exostosis;    chondrosarcoma;    clinical management;    genetics;    multiple osteochondromas;    bone neoplasm;   

Others  :  812444
DOI  :  10.1186/1897-4287-2-4-161

 received in 2004-08-18, accepted in 2004-11-15,  发布年份 2004

【 摘 要 】

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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