人类免疫缺陷病毒 (HIV) 感染者患淋巴瘤的风险增加，这使其成为艾滋病毒感染者死亡的重要原因。然而，我们对潜在的遗传畸变知之甚少，因此我们着手对其进行表征。我们进行了下一代面板测序，以探索 18 名诊断为继发于 HIV 感染的淋巴瘤的患者的诊断性淋巴瘤活检的突变状态。Ion Torrent 接下来-使用 AmpliSeq panel 对 HIV 相关 B 细胞淋巴瘤 (n = 18) 的诊断性淋巴瘤活检进行世代测序，包括弥漫性大 B 细胞淋巴瘤 (n = 9)、经典霍奇金淋巴瘤 (n = 6)、伯基特淋巴瘤(n = 2)、滤泡性淋巴瘤 (n = 1) 和边缘区淋巴瘤 (n = 1)。该组包含 69 个淋巴和/或骨髓相关基因，其中对整个编码序列或热点区域进行了测序。在 18 种淋巴瘤中，我们检测到了 213 个变异。每个肿瘤检测到的突变数量为 4 至 41 个，分布在 42 个基因中，包括外显子和内含子区域。最常见的突变基因包括 KMT2D (67%)、TNFAIP3 (50%) 和 TP53 (61%)。值得注意的是，没有发现任何基因包含所有艾滋病毒相关淋巴瘤的变异，也没有发现亚型特异性变异。虽然一些变异在患者之间共享，但大多数变异是个体患者所独有的，并且通常在数据库中不被报告为恶性遗传变异。我们的研究结果证明了 HIV 相关淋巴瘤组织学亚型之间的遗传异质性，从而有助于阐明其背后的遗传学和病理生理学机制疾病。版权所有 © 2024 Wolters Kluwer Health, Inc. 保留所有权利。

Individuals with human immunodeficiency virus (HIV) experience an increased risk of lymphoma, making this an important cause of death among people with HIV. Nevertheless, little is known regarding the underlying genetic aberrations, which we therefore set out to characterize.We conducted next-generation panel sequencing to explore the mutational status of diagnostic lymphoma biopsies from 18 patients diagnosed with lymphoma secondary to HIV infection.Ion Torrent next-generation sequencing was performed with an AmpliSeq panel on diagnostic lymphoma biopsies from HIV-associated B-cell lymphomas (n = 18), comprising diffuse large B-cell lymphoma (n = 9), classic Hodgkin lymphoma (n = 6), Burkitt lymphoma (n = 2), follicular lymphoma (n = 1), and marginal zone lymphoma (n = 1). The panel comprised 69 lymphoid- and/or myeloid-relevant genes, in which either the entire coding sequence or a hotspot region was sequenced.Among the 18 lymphomas, we detected 213 variants. The number of detected mutations ranged from 4 to 41 per tumor distributed among 42 genes, including both exonic and intronic regions. The most frequently mutated genes included KMT2D (67%), TNFAIP3 (50%), and TP53 (61%). Notably, no gene was found to harbor variants across all the HIV-associated lymphomas, nor did we find subtype-specific variants. While some variants were shared among patients, most were unique to the individual patient and were often not reported as malignant genetic variants in databases.Our findings demonstrate genetic heterogeneity across histological subtypes of HIV-associated lymphomas and thus help elucidate the genetics and pathophysiological mechanisms underlying the disease.Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.