文章：

易感弥漫大B细胞淋巴瘤的生殖系突变

Germline mutations predisposing to diffuse large B-cell lymphoma

原文发布日期：2017-02-17

DOI: 10.1038/bcj.2017.15

类型: Review

开放获取: 是

英文摘要：

Genetic studies of diffuse large B-cell lymphomas (DLBCLs) in humans have revealed numerous targets of somatic mutations and an increasing number of potentially relevant germline alterations. The latter often affect genes involved in DNA repair and/or immune function. In general, defects in these genes also predispose to other conditions. Knowledge of these mutations can lead to disease-preventing measures in the patient and relatives thereof. Conceivably, these germline mutations will be taken into account in future therapy of the lymphoma. In other hematological malignancies, mutations originally found as somatic aberrations have also been shown to confer predisposition to these diseases, when occurring in the germline. Further interrogations of the genome in DLBCL patients are therefore expected to reveal additional hereditary predisposition genes. Our review shows that germline mutations have already been described in over one-third of the genes that are somatically mutated in DLBCL. Whether such germline mutations predispose carriers to DLBCL is an open question. Symptoms of the inherited syndromes associated with these genes range from anatomical malformations to intellectual disability, immunodeficiencies and malignancies other than DLBCL. Inherited or de novo alterations in protein-coding and non-coding genes are envisioned to underlie this lymphoma.

摘要翻译： 

对人类弥漫性大B细胞淋巴瘤（DLBCL）的遗传学研究揭示了体细胞突变的众多靶点以及越来越多的潜在相关种系突变。后者通常影响涉及DNA修复和/或免疫功能的基因。通常，这些基因的缺陷也会增加其他疾病的风险。了解这些突变可以导致患者及其亲属采取疾病预防措施。可以想象，这些种系突变将在未来淋巴瘤治疗中被考虑在内。在其他血液恶性肿瘤中，最初发现为体细胞畸变的突变，当发生在种系时，也被证明会赋予对这些疾病的易感性。因此，预计对DLBCL患者基因组的进一步研究将揭示更多的遗传易感基因。我们的综述显示，在DLBCL中体细胞突变的基因中，已有超过三分之一的基因被描述有种系突变。这些种系突变是否使携带者易患DLBCL是一个悬而未决的问题。与这些基因相关的遗传综合征的症状范围从解剖畸形到智力残疾、免疫缺陷和除DLBCL以外的恶性肿瘤。编码和非编码基因的遗传性或新生突变被认为是这种淋巴瘤的基础。

原文链接：

Germline mutations predisposing to diffuse large B-cell lymphoma