Cancer Genomics, IFIMAV Instituto de Formación e Investigación Marqués de Valdecilla, Santander, Spain.
IBBTEC, UC-CSIC-SODERCAN, Instituto de Biomedicina y Biotecnología de Cantabria, Santander, Spain.
Leukemia. 2014 Jun;28(6):1334-40. doi: 10.1038/leu.2013.365. Epub 2013 Dec 3.
Splenic 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 κB (NF-κB), 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-κB, BCR, chromatin remodelling and the cytoskeleton.
脾边缘区淋巴瘤（SMZL）是一种 B 细胞肿瘤，其分子发病机制仍未得到充分解释，需要更精确的诊断标志物。以前的分子研究揭示了 7q 缺失和核因子 κB（NF-κB）、B 细胞受体（BCR）和 Notch 信号基因的突变。我们对一系列 SMZL 病例进行了全外显子组测序。结果证实 SMZL 是一种与其他低级别 B 细胞淋巴瘤不同的实体，并鉴定出多个参与边缘区发育的基因以及其他参与 NF-κB、BCR、染色质重塑和细胞骨架的基因突变。
