Malignant progression in multiple enchondromatosis (Ollier's disease):: An autopsy-based molecular genetic study
Malignant progression in multiple enchondromatosis (Ollier's disease):: An autopsy-based molecular genetic study
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DOI：
10.1053/hupa.2000.19308
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发表时间：
2000-10-01
期刊：
影响因子：
3.3
通讯作者：
Hogendoorn, PCW
中科院分区：
文献类型：
--
作者：
Bovée, JVMG;van Roggen, JFG;Hogendoorn, PCW
多发性内生性软骨瘤病（奥利氏病）是一种非遗传性疾病，其特征为多发性中央（髓质）软骨骨肿瘤，发病机制不明。它通常累及四肢，单侧占优势，可发生肉瘤性转化。我们报告了一项基于尸体解剖的基因研究，该研究报告了一名34岁的男性，在青春期早期表现为四肢多发内生纤维瘤，主要是左侧，与奥利耶氏病相容。12年后，胫骨内生软骨瘤发生恶性转化为高级别软骨肉瘤。患者死于广泛的转移性疾病。在胫骨软骨肉瘤及其转移瘤中，杂合性缺失（LOH）仅在染色体带13q14和9p21上被发现，而在股骨软骨瘤中则不存在。同样，在胫骨软骨肉瘤及其转移瘤中，免疫组织化学检测到p53过表达，而在股软骨瘤中则不存在；然而，17p13处的LOH未被证实。据推测，在软骨肉瘤及其转移中发现的9p21和13q14推定肿瘤抑制基因失活，以及在软骨肉瘤及其转移中发现的p53过表达，而在内生软骨瘤中不存在，可能与奥利尔病的肉瘤转化有关。哼哼哀歌31:12 . 99-13 . 03。版权所有(C) 2000由WB桑德斯公司。
Multiple enchondromatosis (Ollier's disease) is a nonhereditary disease characterized by multiple central (medullary) cartilaginous bone tumors of unknown pathogenesis. It usually involves the extremities with a unilateral predominance, and sarcomatous transformation may occur. We report an autopsy-based genetic study of a 34-year-old man presenting in early adolescence with multiple enchondromas of the extremities, predominantly left-sided, compatible with Oilier's disease. Twelve years after presentation, malignant transformation to a high grade chondrosarcoma occurred in a tibial enchondroma. The patient died after widespread metastatic disease. Loss of heterozygosity (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, while being absent in the femoral enchondroma; LOH at 17p13 however, was not demonstrable. It is hypothesized that inactivation of putative tumor suppressor genes at 9p21 and 13q14, and overexpression of p53, identified in the chondrosarcoma 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.