Frequent genetic alterations in immune checkpoint-related genes in intravascular large B-cell lymphoma
Frequent genetic alterations in immune checkpoint-related genes in intravascular large B-cell lymphoma
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DOI：
10.1182/blood.2020007245
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发表时间：
2021-03-18
期刊：
影响因子：
20.3
通讯作者：
Kiyoi, Hitoshi
中科院分区：
文献类型：
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作者：
Shimada, Kazuyuki;Yoshida, Kenichi;Kiyoi, Hitoshi
血管内大B细胞淋巴瘤（IVLBCL）是一种独特类型的淋巴结淋巴瘤，其特征是肿瘤细胞选择性生长在小血管中而无淋巴结肿大。由于活检标本中淋巴瘤细胞的缺乏，限制了对IVLBCL分子发病机制的进一步了解，从而限制了获得足够的肿瘤材料。为了揭示IVLBCL的遗传景观，我们使用血浆来源的无细胞DNA（cfDNA）（n=18）、患者来源的异种移植肿瘤（n=4）和来自骨髓（BM）单核细胞的肿瘤DNA（n=2）对21名IVLBCL患者进行了全外显子组测序（WES）。在IVLBCL中cfDNA的含量明显高于弥漫性大B细胞淋巴瘤（DLBCL）（P
Intravascular large B-cell lymphoma (IVLBCL) is a unique type of extranodal lymphoma characterized by selective growth of tumor cells in small vessels without lymphadenopathy. Greater understanding of the molecular pathogenesis of IVLBCL is hampered by the paucity of lymphoma cells in biopsy specimens, creating a limitation in obtaining sufficient tumor materials. To uncover the genetic landscape of IVLBCL, we performed whole-exome sequencing (WES) of 21 patients with IVLBCL using plasma-derived cell-free DNA (cfDNA) (n=18), patient-derived xenograft tumors (n=4), and tumor DNA from bone marrow (BM) mononuclear cells (n=2). The concentration of cfDNA in IVLBCL was significantly higher than that in diffuse large B-cell lymphoma (DLBCL) (P