PMID- 33360122 OWN - NLM STAT- MEDLINE DCOM- 20210719 LR - 20210719 IS - 2210-7762 (Print) VI - 252-253 DP - 2021 Apr TI - RNA-Based next generation sequencing complements but does not replace fluorescence in situ hybridization studies for the classification of aggressive B-Cell lymphomas. PG - 43-47 LID - S2210-7762(20)30293-3 [pii] LID - 10.1016/j.cancergen.2020.12.004 [doi] AB - Aggressive B-cell lymphomas are currently classified based in part upon the presence or absence of translocations involving BCL2, BCL6, and MYC. Most clinical laboratories employ fluorescence in situ hybridization (FISH) analysis for the detection of these rearrangements. The potential role of RNA-based sequencing approaches in the evaluation of malignant lymphoma is currently unclear. In this study, we performed RNA sequencing (RNAseq) in 37 cases of aggressive B-cell lymphomas using a commercially available next generation sequencing assay and compared results to previously performed FISH studies. RNAseq detected 1/7 MYC (14%), 3/8 BCL2 (38%) and 4/8 BCL6 (50%) translocations identified by FISH. RNAseq also detected 1 MYC/IGH fusion in a case not initially tested by FISH due to low MYC protein expression and 2 BCL6 translocations that were not detected by FISH. RNAseq identified the partner gene in each detected rearrangement, including a novel EIF4G1-BCL6 rearrangement. In summary, RNAseq complements FISH for the detection of rearrangements of BCL2, BCL6 and MYC in the evaluation and classification of aggressive B-cell lymphomas by detecting rearrangements that may be cryptic by FISH methods and by identifying the rearrangement partner genes. Detection of these clinically important translocations may be optimized by combined use of FISH and RNAseq. CI - Copyright (c) 2020 Elsevier Inc. All rights reserved. FAU - Wang, Xiaoqiong AU - Wang X AD - Department of Laboratory Medicine, Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, United States. FAU - Johnson, Verity AU - Johnson V AD - ArcherDx Inc, Boulder, CO, United States. FAU - Johnson, Laura AU - Johnson L AD - ArcherDx Inc, Boulder, CO, United States. FAU - Cook, James R AU - Cook JR AD - Department of Laboratory Medicine, Robert J Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, United States. Electronic address: cookj2@ccf.org. LA - eng PT - Journal Article DEP - 20201210 PL - United States TA - Cancer Genet JT - Cancer genetics JID - 101539150 SB - IM MH - Adolescent MH - Adult MH - Aged MH - Aged, 80 and over MH - Child MH - Female MH - High-Throughput Nucleotide Sequencing/*methods MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Lymphoma, B-Cell/*classification/genetics/pathology MH - Male MH - Middle Aged MH - Young Adult OTO - NOTNLM OT - Lymphoma OT - MYC OT - Next generation sequencing OT - RNAseq OT - Translocation EDAT- 2020/12/29 06:00 MHDA- 2021/07/20 06:00 CRDT- 2020/12/28 11:04 PHST- 2020/08/27 00:00 [received] PHST- 2020/10/22 00:00 [revised] PHST- 2020/12/04 00:00 [accepted] PHST- 2020/12/29 06:00 [pubmed] PHST- 2021/07/20 06:00 [medline] PHST- 2020/12/28 11:04 [entrez] AID - S2210-7762(20)30293-3 [pii] AID - 10.1016/j.cancergen.2020.12.004 [doi] PST - ppublish SO - Cancer Genet. 2021 Apr;252-253:43-47. doi: 10.1016/j.cancergen.2020.12.004. Epub 2020 Dec 10.