Copy Number Alteration and Mutational Profile of High-Grade B-Cell Lymphoma with MYC and BCL2 and/or BCL6 Rearrangements, Diffuse Large B-Cell Lymphoma with MYC-Rearrangement, and Diffuse Large B-Cell Lymphoma with MYC-Cluster Amplification

被引：4

作者：

Miyaoka, Masashi ^{[1
]}

Kikuti, Yara Yukie ^{[1
]}

Carreras, Joaquim ^{[1
]}

Ito, Atsushi ^{[1
]}

Ikoma, Haruka ^{[1
]}

Tomita, Sakura ^{[1
]}

Kawada, Hiroshi ^{[2
]}

Roncador, Giovanna ^{[3
]}

Bea, Silvia ^{[4
]}

Campo, Elias ^{[4
]}

Nakamura, Naoya ^{[1
]}

机构：

[1] Tokai Univ, Sch Med, Dept Pathol, 143 Shimokasuya, Isehara, Kanagawa 2591193, Japan

[2] Tokai Univ, Sch Med, Dept Hematol Oncol, 143 Shimokasuya, Isehara, Kanagawa 2591193, Japan

[3] Spanish Natl Canc Res Ctr, Ctr Nacl Invest Oncol, Monoclonal Antibodies Unit, CNIO, Melchor Fernandez Almagro 3, Madrid 28029, Spain

[4] Univ Barcelona, Hosp Clin Barcelona, Inst Invest Biomed August Pi & Sunyer IDIBAPS, Ctr Invest Biomed Red Canc CIBERONC,Dept Pathol,He, C Villarroel 170, Barcelona 08036, Spain

来源：

CANCERS | 2022年 / 14卷 / 23期

关键词：

high-grade B-cell lymphoma with MYC and BCL2 and; or BCL6 rearrangements; double; triple-hit lymphoma; single-hit lymphoma; MYC-cluster amplification; copy number alterations; mutational profile; GENE; EXPRESSION; SURVIVAL; DLBCL; DDX3X; POOR; CLASSIFICATION; PATHOGENESIS; FEATURES; PROTEIN;

D O I：

10.3390/cancers14235849

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Simple Summary Diffuse large B-cell lymphoma (DLBCL) is one of the most frequent non-Hodgkin lymphomas. DLBCL with MYC alteration is classified as (1) high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (double/triple-hit lymphoma; DHL/THL), (2) DLBCL with MYC rearrangement (single-hit lymphoma; SHL), and (3) DLBCL with MYC-cluster amplification (MCAD). This research analyzed these three lymphoma subtypes using an integrative approach, including in situ hybridization (FISH), whole-genome copy number, and targeted next-generation sequencing (NGS). There are differences between them. Diffuse large B-cell lymphoma (DLBCL) with MYC alteration is classified as high-grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (double/triple-hit lymphoma; DHL/THL), DLBCL with MYC rearrangement (single-hit lymphoma; SHL) and DLBCL with MYC-cluster amplification (MCAD). To elucidate the genetic features of DHL/THL, SHL, and MCAD, 23 lymphoma cases from Tokai University Hospital were analyzed. The series included 10 cases of DHL/THL, 10 cases of SHL and 3 cases of MCAD. The analysis used whole-genome copy number microarray analysis (OncoScan) and a custom-made next-generation sequencing (NGS) panel of 115 genes associated with aggressive B-cell lymphomas. The copy number alteration (CNA) profiles were similar between DHL/THL and SHL. MCAD had fewer CNAs than those of DHL/THL and SHL, except for +8q24. The NGS profile characterized DHL/THL with a higher "mutation burden" than SHL (17 vs. 10, p = 0.010), and the most relevant genes for DHL/THL were BCL2 and SOCS1, and for SHL was DTX1. MCAD was characterized by mutations of DDX3X, TCF3, HLA-A, and TP53, whereas MYC was unmutated. In conclusion, DHL/THL, SHL, and MCAD have different profiles.

引用

页数：19

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