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

Overview

Journal Cancers (Basel)

Publisher MDPI

Specialty Oncology

Date 2022 Dec 11

PMID 36497332

Authors

Masashi Miyaoka

Yara Yukie Kikuti

Joaquim Carreras

Atsushi Ito

Haruka Ikoma

Sakura Tomita

Hiroshi Kawada

Giovanna Roncador

Silvia Bea

Elias Campo

Naoya Nakamura

Affiliations

Soon will be listed here.

Abstract

Diffuse large B-cell lymphoma (DLBCL) with alteration is classified as high-grade B-cell lymphoma with and and/or rearrangements (double/triple-hit lymphoma; DHL/THL), DLBCL with rearrangement (single-hit lymphoma; SHL) and DLBCL with -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, = 0.010), and the most relevant genes for DHL/THL were and , and for SHL was . MCAD was characterized by mutations of , , , and , whereas was unmutated. In conclusion, DHL/THL, SHL, and MCAD have different profiles.

Citing Articles

Identification of a Novel Immune-Gene Signature with Prognostic Value in Patients with Head and Neck Cancer: A Pilot Study.

Batsaki P, Fortis S, Gritzapis A, Razou A, Sakellaridis A, Grouzi E Biochem Genet. 2025; .

PMID: 39779579 DOI: 10.1007/s10528-024-11017-8.

Artificial intelligence-based prognostic model accurately predicts the survival of patients with diffuse large B-cell lymphomas: analysis of a large cohort in China.

Peng H, Su M, Guo X, Shi L, Lei T, Yu H BMC Cancer. 2024; 24(1):621.

PMID: 38773392 PMC: 11110380. DOI: 10.1186/s12885-024-12337-z.

The RNA helicase DDX3 and its role in c-MYC driven germinal center-derived B-cell lymphoma.

Lacroix M, Beauchemin H, Khandanpour C, Moroy T Front Oncol. 2023; 13:1148936.

PMID: 37035206 PMC: 10081492. DOI: 10.3389/fonc.2023.1148936.

Mutational Profile and Pathological Features of a Case of Interleukin-10 and RGS1-Positive Spindle Cell Variant Diffuse Large B-Cell Lymphoma.

Carreras J, Kikuti Y, Miyaoka M, Hiraiwa S, Tomita S, Ikoma H Hematol Rep. 2023; 15(1):188-200.

PMID: 36975733 PMC: 10048669. DOI: 10.3390/hematolrep15010020.

References

Alaggio R, Amador C, Anagnostopoulos I, Attygalle A, de Oliveira Araujo I, Berti E . The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms. Leukemia. 2022; 36(7):1720-1748. PMC: 9214472. DOI: 10.1038/s41375-022-01620-2. View

Carreras J, Roncador G, Hamoudi R . Artificial Intelligence Predicted Overall Survival and Classified Mature B-Cell Neoplasms Based on Immuno-Oncology and Immune Checkpoint Panels. Cancers (Basel). 2022; 14(21). PMC: 9657332. DOI: 10.3390/cancers14215318. View

Kunstner A, Witte H, Riedl J, Bernard V, Stolting S, Merz H . Mutational landscape of high-grade B-cell lymphoma with , and/or rearrangements characterized by whole-exome sequencing. Haematologica. 2021; 107(8):1850-1863. PMC: 9335106. DOI: 10.3324/haematol.2021.279631. View

Copie-Bergman C, Cuilliere-Dartigues P, Baia M, Briere J, Delarue R, Canioni D . MYC-IG rearrangements are negative predictors of survival in DLBCL patients treated with immunochemotherapy: a GELA/LYSA study. Blood. 2015; 126(22):2466-74. DOI: 10.1182/blood-2015-05-647602. View

Li S, Saksena A, Desai P, Xu J, Zuo Z, Lin P . Prognostic impact of history of follicular lymphoma, induction regimen and stem cell transplant in patients with MYC/BCL2 double hit lymphoma. Oncotarget. 2016; 7(25):38122-38132. PMC: 5122376. DOI: 10.18632/oncotarget.9473. View

Zeng D, Desai A, Yan F, Gong T, Ye H, Ahmed M . Challenges and Opportunities for High-grade B-Cell Lymphoma With MYC and BCL2 and/or BCL6 Rearrangement (Double-hit Lymphoma). Am J Clin Oncol. 2018; 42(3):304-316. DOI: 10.1097/COC.0000000000000427. View

Ojha J, Secreto C, Rabe K, Van Dyke D, Kortum K, Slager S . Identification of recurrent truncated DDX3X mutations in chronic lymphocytic leukaemia. Br J Haematol. 2014; 169(3):445-8. PMC: 4865407. DOI: 10.1111/bjh.13211. View

Ennishi D, Jiang A, Boyle M, Collinge B, Grande B, Ben-Neriah S . Double-Hit Gene Expression Signature Defines a Distinct Subgroup of Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma. J Clin Oncol. 2018; 37(3):190-201. PMC: 6804880. DOI: 10.1200/JCO.18.01583. View

Chapuy B, Stewart C, Dunford A, Kim J, Kamburov A, Redd R . Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018; 24(5):679-690. PMC: 6613387. DOI: 10.1038/s41591-018-0016-8. View

10.

Jiang L, Gu Z, Yan Z, Zhao X, Xie Y, Zhang Z . Exome sequencing identifies somatic mutations of DDX3X in natural killer/T-cell lymphoma. Nat Genet. 2015; 47(9):1061-6. DOI: 10.1038/ng.3358. View

11.

Sha C, Barrans S, Cucco F, Bentley M, Care M, Cummin T . Molecular High-Grade B-Cell Lymphoma: Defining a Poor-Risk Group That Requires Different Approaches to Therapy. J Clin Oncol. 2018; 37(3):202-212. PMC: 6338391. DOI: 10.1200/JCO.18.01314. View

12.

Ennishi D, Mottok A, Ben-Neriah S, Shulha H, Farinha P, Chan F . Genetic profiling of and in diffuse large B-cell lymphoma determines cell-of-origin-specific clinical impact. Blood. 2017; 129(20):2760-2770. DOI: 10.1182/blood-2016-11-747022. View

13.

Richter J, Schlesner M, Hoffmann S, Kreuz M, Leich E, Burkhardt B . Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing. Nat Genet. 2012; 44(12):1316-20. DOI: 10.1038/ng.2469. View

14.

Ferrari A, Arniani S, Crescenzi B, Ascani S, Flenghi L, Pierini V . High grade B-cell lymphoma with , and/or rearrangements: unraveling the genetic landscape of a rare aggressive subtype of non-Hodgkin lymphoma. Leuk Lymphoma. 2022; 63(6):1356-1362. DOI: 10.1080/10428194.2021.2024821. View

15.

Rosenthal A, Rimsza L . Genomics of aggressive B-cell lymphoma. Hematology Am Soc Hematol Educ Program. 2018; 2018(1):69-74. PMC: 6245962. DOI: 10.1182/asheducation-2018.1.69. View

16.

Li S, Desai P, Lin P, Yin C, Tang G, Wang X . MYC/BCL6 double-hit lymphoma (DHL): a tumour associated with an aggressive clinical course and poor prognosis. Histopathology. 2015; 68(7):1090-8. DOI: 10.1111/his.12884. View

17.

Carreras J, Y Kikuti Y, Bea S, Miyaoka M, Hiraiwa S, Ikoma H . Clinicopathological characteristics and genomic profile of primary sinonasal tract diffuse large B cell lymphoma (DLBCL) reveals gain at 1q31 and RGS1 encoding protein; high RGS1 immunohistochemical expression associates with poor overall survival.... Histopathology. 2016; 70(4):595-621. DOI: 10.1111/his.13106. View

18.

Pedersen M, Gang A, Poulsen T, Knudsen H, Lauritzen A, Nielsen S . MYC translocation partner gene determines survival of patients with large B-cell lymphoma with MYC- or double-hit MYC/BCL2 translocations. Eur J Haematol. 2013; 92(1):42-8. DOI: 10.1111/ejh.12212. View

19.

Schmitz R, Wright G, Huang D, Johnson C, Phelan J, Wang J . Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018; 378(15):1396-1407. PMC: 6010183. DOI: 10.1056/NEJMoa1801445. View

20.

Campo E, Jaffe E, Cook J, Quintanilla-Martinez L, Swerdlow S, Anderson K . The International Consensus Classification of Mature Lymphoid Neoplasms: a report from the Clinical Advisory Committee. Blood. 2022; 140(11):1229-1253. PMC: 9479027. DOI: 10.1182/blood.2022015851. View