Miyaoka, MasashiKikuti, Yara YukieCarreras, JoaquimIto, AtsushiIkoma, HarukaTomita, SakuraKawada, HiroshiRoncador, GiovannaBea, SilviaCampo, EliasNakamura, Naoya2023-06-062023-06-062022-11-27Cancers (Basel). 2022 ;14(23):5849.2072-6694http://hdl.handle.net/20.500.12105/16139The authors thank the technicians and scientists of the Genomics Core Facility of the IDIBAPS for their assistance in performing the NGS analysis.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.engVoRhttp://creativecommons.org/licenses/by-nc-sa/4.0/GENEEXPRESSIONSURVIVALDLBCLDDX3XPOORCLASSIFICATIONPATHOGENESISFEATURESPROTEINAtribución-NoComercial-CompartirIgual 4.0 Internacional364973321423584910.3390/cancers14235849Cancersopen access