Cargando…

Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review

Primary cardiac diffuse large B cell lymphoma (PC-DLBCL) is a rare kind of hematological malignancy, and its clinical and pathologic characteristics, especially in Eastern countries, remain unclear. Moreover, genomic alterations in PC-DLBCL have not been studied previously. We describe a case of a 5...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Jinjing, Lin, Xuyong, Li, Yan, Zhang, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839572/
https://www.ncbi.nlm.nih.gov/pubmed/31806993
http://dx.doi.org/10.2147/OTT.S227122
_version_ 1783467453806804992
author Zhang, Jinjing
Lin, Xuyong
Li, Yan
Zhang, Rui
author_facet Zhang, Jinjing
Lin, Xuyong
Li, Yan
Zhang, Rui
author_sort Zhang, Jinjing
collection PubMed
description Primary cardiac diffuse large B cell lymphoma (PC-DLBCL) is a rare kind of hematological malignancy, and its clinical and pathologic characteristics, especially in Eastern countries, remain unclear. Moreover, genomic alterations in PC-DLBCL have not been studied previously. We describe a case of a 57-year-old man who presented with exertional dyspnoea due to a heart mass in April 2018 and was diagnosed with PC-DLBCL characterized by immunohistochemical markers of the activated B cell (ABC) subtype and double expression of c-MYC and Bcl-2. Mutations in a total of 11 genes—TBL1XR1, CD79B, IGLL5, ZMYM3, MYD88, TMSB4X, PIM1, BTK, NRXN3, CUX1, and CSMD1—were detected via next-generation sequencing (NGS), while 19 copy number variations (CNVs) such as 1q+, 3p+, 3q+(*2), 5p+, 6p−, 6q−, 7q+, +11, 12q−, 15q−, 17q+, 17p−, +18, 19q+, 19p−, 19q−, X q+, and −Y and 4 copy-neutral loss of heterozygosity (CN-LOH) lesions located at 1q21.1q44, 3p26.3q11.2, 3q13.11q29 and 6p22.2p21.32 were identified by single nucleotide polymorphism (SNP) array karyotyping. Some key gene alterations in lymphoma, such as PRDM1 deletion and Bcl-2 amplification, were identified using SNP array analysis. The patient received 6 courses of chemotherapy (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone, R-CHOP regimen) after surgery and is currently in remission. In summary, the present case was diagnosed as PC-DLBCL, ABC subtype by the Hans algorithm and double expression lymphoma, with co-occurrence of the MYD88(L265P) and CD79B mutations (MCD) subtype by genetic alteration analysis. This study presents a unique PC-DLBCL case in which complex genomic alterations were revealed by NGS and SNP array analysis, which has never been reported in the literature, and these findings could provide new insight into the genomic characterization of PC-DLBCL.
format Online
Article
Text
id pubmed-6839572
institution National Center for Biotechnology Information
language English
publishDate 2019
publisher Dove
record_format MEDLINE/PubMed
spelling pubmed-68395722019-12-05 Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review Zhang, Jinjing Lin, Xuyong Li, Yan Zhang, Rui Onco Targets Ther Case Report Primary cardiac diffuse large B cell lymphoma (PC-DLBCL) is a rare kind of hematological malignancy, and its clinical and pathologic characteristics, especially in Eastern countries, remain unclear. Moreover, genomic alterations in PC-DLBCL have not been studied previously. We describe a case of a 57-year-old man who presented with exertional dyspnoea due to a heart mass in April 2018 and was diagnosed with PC-DLBCL characterized by immunohistochemical markers of the activated B cell (ABC) subtype and double expression of c-MYC and Bcl-2. Mutations in a total of 11 genes—TBL1XR1, CD79B, IGLL5, ZMYM3, MYD88, TMSB4X, PIM1, BTK, NRXN3, CUX1, and CSMD1—were detected via next-generation sequencing (NGS), while 19 copy number variations (CNVs) such as 1q+, 3p+, 3q+(*2), 5p+, 6p−, 6q−, 7q+, +11, 12q−, 15q−, 17q+, 17p−, +18, 19q+, 19p−, 19q−, X q+, and −Y and 4 copy-neutral loss of heterozygosity (CN-LOH) lesions located at 1q21.1q44, 3p26.3q11.2, 3q13.11q29 and 6p22.2p21.32 were identified by single nucleotide polymorphism (SNP) array karyotyping. Some key gene alterations in lymphoma, such as PRDM1 deletion and Bcl-2 amplification, were identified using SNP array analysis. The patient received 6 courses of chemotherapy (rituximab, cyclophosphamide, doxorubicin, vincristine, prednisone, R-CHOP regimen) after surgery and is currently in remission. In summary, the present case was diagnosed as PC-DLBCL, ABC subtype by the Hans algorithm and double expression lymphoma, with co-occurrence of the MYD88(L265P) and CD79B mutations (MCD) subtype by genetic alteration analysis. This study presents a unique PC-DLBCL case in which complex genomic alterations were revealed by NGS and SNP array analysis, which has never been reported in the literature, and these findings could provide new insight into the genomic characterization of PC-DLBCL. Dove 2019-11-04 /pmc/articles/PMC6839572/ /pubmed/31806993 http://dx.doi.org/10.2147/OTT.S227122 Text en © 2019 Zhang et al. http://creativecommons.org/licenses/by-nc/3.0/ This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Case Report
Zhang, Jinjing
Lin, Xuyong
Li, Yan
Zhang, Rui
Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review
title Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review
title_full Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review
title_fullStr Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review
title_full_unstemmed Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review
title_short Genomic Alterations In Primary Cardiac Diffuse Large B Cell Lymphoma: A Case Report And Literature Review
title_sort genomic alterations in primary cardiac diffuse large b cell lymphoma: a case report and literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6839572/
https://www.ncbi.nlm.nih.gov/pubmed/31806993
http://dx.doi.org/10.2147/OTT.S227122
work_keys_str_mv AT zhangjinjing genomicalterationsinprimarycardiacdiffuselargebcelllymphomaacasereportandliteraturereview
AT linxuyong genomicalterationsinprimarycardiacdiffuselargebcelllymphomaacasereportandliteraturereview
AT liyan genomicalterationsinprimarycardiacdiffuselargebcelllymphomaacasereportandliteraturereview
AT zhangrui genomicalterationsinprimarycardiacdiffuselargebcelllymphomaacasereportandliteraturereview