2026-04-27T03:43:16Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/161392024-11-29T14:21:30Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Miyaoka, Masashi
author
Kikuti, Yara Yukie
author
Carreras, Joaquim
author
Ito, Atsushi
author
Ikoma, Haruka
author
Tomita, Sakura
author
Kawada, Hiroshi
author
Roncador, Giovanna
author
Bea, Silvia
author
Campo, Elias
author
Nakamura, Naoya
2023-06-06T08:56:21Z
2023-06-06T08:56:21Z
2022-11-27
Cancers (Basel). 2022 ;14(23):5849.
2072-6694
http://hdl.handle.net/20.500.12105/16139
36497332
10.3390/cancers14235849
Cancers
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.
eng
GENE
EXPRESSION
SURVIVAL
DLBCL
DDX3X
POOR
CLASSIFICATION
PATHOGENESIS
FEATURES
PROTEIN
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.
journal article
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URL
https://repisalud.isciii.es/bitstreams/6e537c95-b30f-4531-86a3-2fe1f62486b1/download
File
MD5
34ffdfc5bbe43e7e596bb2e3e48058fd
5116568
application/pdf
CopyNumberAlterationandMutational_2022.pdf
URL
https://repisalud.isciii.es/bitstreams/e5b2569d-8dcd-47fa-89af-77b4d62d27d5/download
File
MD5
eafccce3c6612750c9586515811d1635
76252
text/plain
CopyNumberAlterationandMutational_2022.pdf.txt