Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation
Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation
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DOI：
10.1038/leu.2013.365
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发表时间：
2014-06-01
期刊：
影响因子：
11.4
通讯作者：
Piris, M. A.
中科院分区：
文献类型：
--
作者：
Martinez, N.;Almaraz, C.;Piris, M. A.
(S)脾脏边缘区淋巴瘤（SMZL）是一种b细胞肿瘤，其分子发病机制仍未得到根本解释，需要更精确的诊断标记。先前的分子研究揭示了核因子κ B （nf - κ B）、B细胞受体（BCR）和Notch信号基因的7q缺失和突变。我们对一系列SMZL病例进行了全外显子组测序。结果证实，SMZL是一个不同于其他低级别B细胞淋巴瘤的实体，并发现了涉及边缘区发育的多个基因突变，以及涉及NF-kappa B、BCR、染色质重塑和细胞骨架的其他基因突变。
(S)plenic marginal zone lymphoma (SMZL) is a B-cell neoplasm whose molecular pathogenesis remains fundamentally unexplained, requiring more precise diagnostic markers. Previous molecular studies have revealed 7q loss and mutations of nuclear factor kappa B (NF-kappa B), B-cell receptor (BCR) and Notch signalling genes. We performed whole-exome sequencing in a series of SMZL cases. Results confirmed that SMZL is an entity distinct from other low-grade B-cell lymphomas, and identified mutations in multiple genes involved in marginal zone development, and others involved in NF-kappa B, BCR, chromatin remodelling and the cytoskeleton.