Combined Reverse-Transcriptase Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing Analyses to Assign Unclassified BCL2−/BCL6− Nonrearranged Small B-Cell Lymphoid Neoplasms as Follicular or Nodal Marginal Zone Lymphoma.

Details

Serval ID
serval:BIB_B8B0918DBE52
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Combined Reverse-Transcriptase Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing Analyses to Assign Unclassified BCL2−/BCL6− Nonrearranged Small B-Cell Lymphoid Neoplasms as Follicular or Nodal Marginal Zone Lymphoma.
Journal
Modern pathology
Author(s)
Sesboue C., Galtier J., Jeanneau M., Chauvel A., Laharanne E., Amintas S., Merlio J.P., Bouabdallah K., Gros F.X., de Leval L., Gros A., Parrens M.
ISSN
1530-0285 (Electronic)
ISSN-L
0893-3952
Publication state
Published
Issued date
02/2023
Peer-reviewed
Oui
Volume
36
Number
2
Pages
100043
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Distinguishing between follicular lymphoma (FL) and nodal marginal zone lymphoma (NMZL) can be difficult when morphologic and phenotypic features are unusual and characteristic cytogenetic rearrangements are absent. We evaluated the diagnostic contribution of ancillary techniques-including fluorescence in situ hybridization (FISH)-detected 1p36 deletion; reverse-transcriptase, multiplex, ligation-dependent probe amplification (RT-MLPA); and next-generation sequencing (NGS)-for tumors that remain unclassified according to standard criteria. After review, 50 CD5-negative small B-cell lymphoid neoplasms without BCL2 and BCL6 FISH rearrangements were diagnosed as FLs (n = 27), NMZLs (n = 5), or unclassified (n = 18) based on the 2016 World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues. FISH helped identify the 1p36 deletion in 3 FLs and 1 unclassified tumor. Most classified FLs had an RT-MLPA germinal center B-cell (GCB) signature (93%) or were noncontributive (7%). Classified NMZLs had an RT-MLPA activated B-cell signature (20%), had an unassigned signature (40%), or were noncontributive (40%). Among unclassified tumors, the RT-MLPA GCB signature was associated with mutations most commonly found in FLs (CREBBP, EZH2, STAT6, and/or TNFRSF14) (90%). An RT-MLPA-detected GCB signature and/or NGS-detected gene mutations were considered as FL identifiers for 13 tumors. An activated B-cell signature or NOTCH2 mutation supported NMZL diagnosis in 3 tumors. Combining the RT-MLPA and NGS findings successfully discriminated 89% of unclassified tumors in favor of one or the other diagnosis. NGS-detected mutations may be of therapeutic interest. Herein, we detected 3 EZH2 and 8 CREBBP mutations that might be eligible for targeted therapies.
Keywords
Humans, In Situ Hybridization, Fluorescence, Multiplex Polymerase Chain Reaction, Lymphoma, B-Cell, Marginal Zone/genetics, Lymphoma, Follicular/diagnosis, Lymphoma, Follicular/genetics, High-Throughput Nucleotide Sequencing, Chromosome Deletion, DNA-Directed RNA Polymerases, Proto-Oncogene Proteins c-bcl-2, Proto-Oncogene Proteins c-bcl-6, FISH, NGS, RT-MLPA, Small B-cell lymphoid neoplasm
Pubmed
Web of science
Create date
01/03/2023 14:44
Last modification date
16/06/2023 6:57
Usage data