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肉瘤临床上罕见、来源不同且难以分类。大部分肉瘤与特异性分子遗传学改变有关,如易位、突变及扩增。这些遗传学改变有助于个体化诊断,但分子遗传学在肉瘤的最后诊断中的确切作用还不明确。本研究连续2年收集欧洲2个国家中的3个地区(代表1300万居民)中患有组织及内脏肉瘤患者。所有携有特异性遗传学改变的疑似肉瘤标本均进行分子分析,如胃肠间质瘤中KIT/PDGFRA基因突变、基因转位、非典型脂肪瘤、高分化脂肪肉瘤-去分化脂肪肉瘤(ALT/WDLPS-DDLPS)中
Sarcoma clinically rare, different sources and difficult to classify. Most sarcomas are associated with specific molecular genetic changes, such as translocation, mutation and amplification. These genetic changes contribute to individualized diagnosis, but the exact role of molecular genetics in the final diagnosis of sarcomas remains unclear. This study collected 2 consecutive years of patients with tissue and visceral sarcoma from 3 of 2 European countries (representing 13 million inhabitants). All suspected sarcomas carrying specific genetic alterations were subjected to molecular analyzes such as KIT / PDGFRA gene mutation, gene translocation, atypical lipoma, highly differentiated liposarcoma-dedifferentiated liposarcoma (ALT / WDLPS-DDLPS)