Genevay Muriel, Gengler Carole, Guillou Louis
Service de pathologie clinique, Hôpital Cantonal Universitaire, Genève, Suisse.
Bull Cancer. 2007 Sep;94(9):781-92.
During the last 10 years, molecular testing of soft tissue tumors has become increasingly important, not only in the diagnostic approach of these lesions, but also regarding their prognosis and pathogenesis. A subset of soft tissue sarcomas bear chromosomal abnormalities including reciprocal translocations, deletions, mutations and amplifications, which turned out to be histotype specific. Beside their diagnostic value in sarcoma typing and subtyping (always in an appropriate clinical and histologic context), some of these abnormalities may also impact on treatment response and/or on prognosis. The aim of this review is to provide an overview of the most informative soft tissue sarcoma chromosomal abnormalities, and to give some clues about why and how we should detect them. Some sarcoma types (Ewing sarcoma, rhabdomyosarcomas, synovial sarcoma, well-differentiated/dedifferentiated and myxoid liposarcomas, gastrointestinal stromal tumors--GIST, malignant rhabdoid tumor) will be studied in more detail and the potential implication of these abnormalities in tumor genesis, growth, and maintenance will be briefly discussed.
在过去十年中，软组织肿瘤的分子检测变得越来越重要，这不仅体现在这些病变的诊断方法上，还体现在它们的预后和发病机制方面。一部分软组织肉瘤存在染色体异常，包括相互易位、缺失、突变和扩增，结果表明这些异常具有组织学类型特异性。除了在肉瘤分型和亚型诊断中的价值（始终在适当的临床和组织学背景下），其中一些异常还可能影响治疗反应和/或预后。本综述的目的是概述最具信息价值的软组织肉瘤染色体异常情况，并提供一些关于我们为何以及如何检测它们的线索。将更详细地研究某些肉瘤类型（尤因肉瘤、横纹肌肉瘤、滑膜肉瘤、高分化/去分化和黏液样脂肪肉瘤、胃肠道间质瘤——GIST、恶性横纹肌样瘤），并简要讨论这些异常在肿瘤发生、生长和维持中的潜在影响。
