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首页> 外文期刊>The Journal of investigative dermatology. >Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma
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Panel Sequencing Shows Recurrent Genetic FAS Alterations in Primary Cutaneous Marginal Zone Lymphoma

机译：面板测序显示初级皮肤边缘区淋巴瘤中的复发性遗传学遗传学率改变

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摘要

Primary cutaneous marginal zone lymphoma (PCMZL) represents an indolent subtype of non-Hodgkin lymphoma that is clinically characterized by slowly growing skin tumors with a very low propensity for systemic dissemination. The underlying genetic basis of PCMZL has not been comprehensively elucidated. To gain deeper insight into the molecular pathogenesis of PCMZL, we performed hybridization-based panel sequencing of 38 patients with well-characterized PCMZL. In 32 of the 38 patients, we identified genetic alterations within 39 selected target genes. The most frequently detected alterations (24/38 patients, 63.2%) affected the FAS gene, of which 22 patients harbored alterations, which affect the functionally relevant death domain of the apoptosis-regulating FAS/CD95 protein in a dominant-negative manner. In addition, we identified highly recurrent mutations in three other genes, namely SLAMF1, SPEN, and NCOR2. Our molecular data suggest that apoptosis defects provide the molecular basis of the observed clinical features of PCMZL, which commonly presents with only slowly growing skin tumors, reflecting its invariably indolent behavior. From a diagnostic point of view, highly recurrent FAS mutations in PCMZL presumably separate this indolent lymphoma entity from pseudolymphoma, and this adds adjunctive discriminatory features at a molecular level.
机译：初级皮肤边缘区淋巴瘤（PCMZ1）代表非霍奇金淋巴瘤的惰性亚型，其临床表征是缓慢生长的皮肤肿瘤，以非常低的全身散布倾向。 PCMZL的基础遗传基础尚未全面阐明。为了更深入地了解PCMZL的分子发病机制，我们对38名患者进行了杂交的基于PCMZL的患者。在38例患者中的32例中，我们确定了39个选定的靶基因内的遗传改变。最常检测到的改变（24/38名患者，63.2％）影响了FAS基因，其中22例患者的患者改变，影响了凋亡调节FAS / CD95蛋白的功能相关的死亡结构蛋白，以优势负面的方式影响。此外，我们在三种其他基因中鉴定了高度复发性突变，即Slamf1，Spen和Ncor2。我们的分子数据表明，细胞凋亡缺陷提供了PCMZL所观察到的临床特征的分子基础，其仅具有缓慢生长的皮肤肿瘤，反映其具有总体惰性的行为。从诊断的角度来看，PCMZL中的高度复发性FAS突变可能会使这种惰性淋巴瘤实体与伪映像，这增加了分子水平的辅助鉴别特征。

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