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Common Somatic Alterations Identified in Maffucci Syndrome by Molecular Karyotyping

1 Jan 2014

Abstract excerpt

Maffucci syndrome (MS) is a rare congenital disorder characterized by multiple central cartilaginous tumors (enchondromas) in association with cutaneous spindle cell hemangiomas. These patients have a high incidence of malignant transformation. No familial case is known and the etiopathogenic cause remains unknown. In enchondromatosis (Ollier disease, OD), which is comprised of enchondromas only, 4 mutations in...

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PMID: 25565925
DOI: 10.1159/000365898

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