髓系肿瘤中与 11q 单亲二体相关的功能获得性 c-CBL 突变。
Gain-of-function c-CBL mutations associated with uniparental disomy of 11q in myeloid neoplasms.
机构信息
Cancer Genomics Project, University of Tokyo, Bunkyo-ku, Tokyo, Japan.
出版信息
Cell Cycle. 2010 Mar 15;9(6):1051-6. doi: 10.4161/cc.9.6.11034.
Abstract
c-CBL (CBL) encodes a multifunctional protein engaged in the regulation of intracellular signaling pathways. It was first identified as a cellular counterpart of the viral oncogene, v-CBL, that causes murine lymphoma. Although no genetic evidence existed suggesting its role in human carcinogenesis, the recent discovery of c-CBL mutations in myeloid cancers has unveiled a unique oncogenic mechanism mediated by gain-of-function of a mutated tumor suppressor, closely associated with allelic conversion of 11q arms. In this review, we summarize our current knowledge about c-CBL mutations and discuss the molecular mechanisms of their gain-of-function.
摘要
c-CBL（CBL）编码一种多功能蛋白，参与细胞内信号通路的调节。它最初被鉴定为病毒癌基因 v-CBL 的细胞对应物，可导致鼠淋巴瘤。尽管没有遗传证据表明其在人类肿瘤发生中的作用，但最近在髓系癌症中发现 c-CBL 突变揭示了一种独特的致癌机制，该机制由突变的肿瘤抑制因子的功能获得介导，与 11q 臂的等位基因转换密切相关。在这篇综述中，我们总结了我们目前对 c-CBL 突变的认识，并讨论了它们功能获得的分子机制。
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