MicroRNA profiling of multiple osteochondromas: identification of disease-specific and normal cartilage signatures复制标题

多发性骨软骨瘤的MicroRNA分析: 疾病特异性和正常软骨特征的鉴定

Multiple osteochondroma [MO (MIM #133700, #133701)] is an autosomal dominant disease characterized by multiple projections of bone (osteochondromas). Even if considered a rare disease, MO represents one of the most common skeletal disorders. Osteochondromas arise at the external surface of bones formed by endochondral ossification, and consist of a cartilage cap covering a bony stalk which is continuous with the underlying bone; chondrocytes located in the cartilage cap have the same spatial organization as those in the metaphyseal growth plate and also undergo endochondral ossification. Osteochondromas are rarely present at birth and grow in number and size during childhood, until skeletal maturity of patient with the closure of growth plate. The most serious complication of this pathology is malignant transformation into peripheral chondrosarcoma, which is estimated to occur in 1–5% of patients.

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