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多发性骨髓瘤(MM)是以产生单克隆免疫球蛋白为特征的恶性浆细胞增殖性疾病,其发生的分子机制目前尚不清楚。最近,国外学者发现,大多数的骨髓瘤细胞中有免疫球蛋白重链基因(IgH)的易位。通过IgH易位,原癌基因部分或全部拼接到IgH位点上而表达失控,最终促使肿瘤的发生。与IgH交互易位的伙伴染色体并不固定,易位所累及的基因近半数已被克隆,还有更多的基因及其功能有待阐明。本文将MM IgH易位及相关的分子遗传学作简要综述。
Multiple myeloma (MM) is a malignant plasma cell proliferative disease characterized by the production of monoclonal immunoglobulins. The molecular mechanism of its occurrence is currently unknown. Recently, foreign scholars have discovered that most myeloma cells have a translocation of an immunoglobulin heavy chain gene (IgH). Through the IgH translocation, the proto-oncogene is partially or completely spliced to the IgH site and the expression is out of control, which ultimately promotes tumorigenesis. The partner chromosomes that interact with IgH are not fixed, and nearly half of the genes involved in the translocation have been cloned, and more genes and their functions remain to be elucidated. This article briefly reviews MM IgH translocations and related molecular genetics.