PMID- 36853790
OWN - NLM
STAT- MEDLINE
DCOM- 20230302
LR  - 20230413
IS  - 1530-0285 (Electronic)
IS  - 0893-3952 (Linking)
VI  - 36
IP  - 2
DP  - 2023 Feb
TI  - 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.
PG  - 100043
LID - S0893-3952(22)00043-6 [pii]
LID - 10.1016/j.modpat.2022.100043 [doi]
AB  - 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.
CI  - Copyright (c) 2022 United States & Canadian Academy of Pathology. Published by 
      Elsevier Inc. All rights reserved.
FAU - Sesboue, Come
AU  - Sesboue C
AD  - Pathology Department, University Hospital of Bordeaux, Pessac, France. Electronic 
      address: come.sesboue@chu-bordeaux.fr.
FAU - Galtier, Jean
AU  - Galtier J
AD  - Hematology and Cell Therapy Department, University Hospital of Bordeaux, Pessac, 
      France.
FAU - Jeanneau, Marie
AU  - Jeanneau M
AD  - Pathology Department, University Hospital of Bordeaux, Pessac, France.
FAU - Chauvel, Annick
AU  - Chauvel A
AD  - Pathology Department, University Hospital of Bordeaux, Pessac, France.
FAU - Laharanne, Elodie
AU  - Laharanne E
AD  - Tumor Bank and Tumor Biology Laboratory, University Hospital of Bordeaux, Pessac, 
      France; BRIC INSERM U1312, Trio 2, University of Bordeaux, Bordeaux, France.
FAU - Amintas, Samuel
AU  - Amintas S
AD  - Tumor Bank and Tumor Biology Laboratory, University Hospital of Bordeaux, Pessac, 
      France; BRIC INSERM U1312, BioGo, University of Bordeaux, Bordeaux, France.
FAU - Merlio, Jean-Philippe
AU  - Merlio JP
AD  - Tumor Bank and Tumor Biology Laboratory, University Hospital of Bordeaux, Pessac, 
      France; BRIC INSERM U1312, Trio 2, University of Bordeaux, Bordeaux, France.
FAU - Bouabdallah, Krimo
AU  - Bouabdallah K
AD  - Hematology and Cell Therapy Department, University Hospital of Bordeaux, Pessac, 
      France.
FAU - Gros, Francois-Xavier
AU  - Gros FX
AD  - Hematology and Cell Therapy Department, University Hospital of Bordeaux, Pessac, 
      France.
FAU - de Leval, Laurence
AU  - de Leval L
AD  - Lausanne University Hospital, Lausanne, Switzerland.
FAU - Gros, Audrey
AU  - Gros A
AD  - Tumor Bank and Tumor Biology Laboratory, University Hospital of Bordeaux, Pessac, 
      France; BRIC INSERM U1312, Trio 2, University of Bordeaux, Bordeaux, France.
FAU - Parrens, Marie
AU  - Parrens M
AD  - Pathology Department, University Hospital of Bordeaux, Pessac, France; BRIC 
      INSERM U1312, Trio 2, University of Bordeaux, Bordeaux, France.
LA  - eng
PT  - Journal Article
DEP - 20230110
PL  - United States
TA  - Mod Pathol
JT  - Modern pathology : an official journal of the United States and Canadian Academy 
      of Pathology, Inc
JID - 8806605
RN  - EC 2.7.7.6 (DNA-Directed RNA Polymerases)
RN  - 0 (Proto-Oncogene Proteins c-bcl-2)
RN  - 0 (BCL6 protein, human)
RN  - 0 (Proto-Oncogene Proteins c-bcl-6)
RN  - 0 (BCL2 protein, human)
SB  - IM
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Multiplex Polymerase Chain Reaction
MH  - *Lymphoma, B-Cell, Marginal Zone/genetics
MH  - *Lymphoma, Follicular/diagnosis/genetics
MH  - High-Throughput Nucleotide Sequencing
MH  - Chromosome Deletion
MH  - DNA-Directed RNA Polymerases
MH  - Proto-Oncogene Proteins c-bcl-2
MH  - Proto-Oncogene Proteins c-bcl-6
OTO - NOTNLM
OT  - FISH
OT  - NGS
OT  - RT-MLPA
OT  - Small B-cell lymphoid neoplasm
EDAT- 2023/03/01 06:00
MHDA- 2023/03/03 06:00
CRDT- 2023/02/28 12:02
PHST- 2022/04/28 00:00 [received]
PHST- 2022/09/30 00:00 [revised]
PHST- 2022/10/12 00:00 [accepted]
PHST- 2023/02/28 12:02 [entrez]
PHST- 2023/03/01 06:00 [pubmed]
PHST- 2023/03/03 06:00 [medline]
AID - S0893-3952(22)00043-6 [pii]
AID - 10.1016/j.modpat.2022.100043 [doi]
PST - ppublish
SO  - Mod Pathol. 2023 Feb;36(2):100043. doi: 10.1016/j.modpat.2022.100043. Epub 2023 
      Jan 10.