Malignant progression in multiple enchondromatosis (Ollier's disease): An autopsy-based molecular genetic study

Multiple enchondromatosis (Ollier's disease) is a nonhereditary disease cha racterized by multiple central (medullary) cartilaginous bone tumors of unk nown pathogenesis. It usually involves the extremities with a unilateral pr edominance, and sarcomatous transformation may occur. We report an autopsy- based genetic study of a 34-year-old man presenting in early adolescence wi th multiple enchondromas of the extremities, predominantly left-sided, comp atible with Oilier's disease. Twelve years after presentation, malignant tr ansformation to a high grade chondrosarcoma occurred in a tibial enchondrom a. The patient died after widespread metastatic disease. Loss of heterozygo sity (LOH), in the tibial chondrosarcoma and its metastases, was identified exclusively on chromosome bands 13q14 and 9p21, while being absent in the femoral enchondroma analyzed. Similarly, p53 overexpression was identified immunohistochemically in the tibial chondrosarcoma and its metastases, whil e being absent in the femoral enchondroma; LOH at 17p13 however, was not de monstrable. It is hypothesized that inactivation of putative tumor suppress or genes at 9p21 and 13q14, and overexpression of p53, identified in the ch ondrosarcoma and its metastases, but absent in enchondroma, may be related to sarcomatous transformation in Oilier's disease. HUM PATHOL 31:1299-1303. Copyright (C) 2000 by WB. Saunders Company.