Cyclin D1-positive Mediastinal Large B-Cell Lymphoma With Copy Number Gains of CCND1 Gene: A Study of 3 Cases With Nonmediastinal Disease.

Details

Serval ID
serval:BIB_E32B64B55CF9
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Cyclin D1-positive Mediastinal Large B-Cell Lymphoma With Copy Number Gains of CCND1 Gene: A Study of 3 Cases With Nonmediastinal Disease.
Journal
The American journal of surgical pathology
Author(s)
Chen B.J., Ruminy P., Roth C.G., Bisig B., Mankel B., Steinhilber J., Bohers E., Jardin F., Fend F., Swerdlow S.H., Copie-Bergman C., de Leval L., Quintanilla-Martinez L.
ISSN
1532-0979 (Electronic)
ISSN-L
0147-5185
Publication state
Published
Issued date
01/2019
Peer-reviewed
Oui
Volume
43
Number
1
Pages
110-120
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Primary mediastinal large B-cell lymphoma (PMBL) is a mature large B-cell lymphoma of putative thymic B-cell origin involving the mediastinum with younger age distribution and better prognosis than diffuse large B-cell lymphoma (DLBCL), not otherwise specified. Recently, based on gene expression profile analysis and morphologic findings, cases of PMBL without mediastinal involvement have been reported. In this study, we analyzed 3 cases of nodal DLBCL with morphologic features of PMBL presenting in submandibular or supraclavicular lymph nodes, in middle-aged to elderly patients, 2 of them without clinical or radiologic evidence of mediastinal involvement. The 3 patients presented with stage I/II disease and had excellent response to R-CHOP/R-EPOCH therapy. The 3 cases showed MAL expression and were positive for CD23 and/or CD30. All 3 cases expressed cyclin D1 with copy number gains of CCND1 gene but without rearrangement. There was no rearrangement of CIITA or PDL1/PDL2. Reverse transcriptase-multiplex ligation-dependent probe amplification, a mRNA-based gene expression profile analysis revealed high probability of PMBL (87.6%, 98.7%, and 99%) in these 3 cases. Targeted next-generation sequencing analysis showed SOCS1 mutations in the 3 cases, and TNFAIP3 and XPO1 mutations in one, further supporting the diagnosis of PMBL. In conclusion, we report 3 cases of nodal PMBL, 2 of them without mediastinal mass, and expression of cyclin D1 due to copy number gains of CCND1 gene, a diagnostic pitfall with mantle cell lymphoma and DLBCL, not otherwise specified.
Pubmed
Web of science
Create date
14/09/2018 12:51
Last modification date
20/08/2019 17:06
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