PMID- 36881639 OWN - NLM STAT- MEDLINE DCOM- 20230707 LR - 20230718 IS - 1943-7722 (Electronic) IS - 0002-9173 (Linking) VI - 160 IP - 1 DP - 2023 Jul 5 TI - Integrated Genomic DNA/RNA Profiling vs Fluorescence in Situ Hybridization in the Detection of MYC and BCL2 (and BCL6) Rearrangements in Large B-Cell Lymphomas: Updates Amid the New WHO Classification of Lymphoid Neoplasms. PG - 41-48 LID - 10.1093/ajcp/aqad006 [doi] AB - OBJECTIVES: Large B-cell lymphomas (LBCLs) are a heterogeneous group of lymphoid neoplasms whose molecular and cytogenetic profile has predictive and prognostic implications. The concept of double-hit lymphomas (DHLs) was recently updated in the fifth edition of the World Health Organization classification, with the exclusion of MYC and BCL6 rearranged tumors from the group. Now, DHLs are referred to as diffuse large B-cell lymphoma/high-grade B-cell lymphoma with MYC and BCL2 rearrangements. Fluorescence in situ hybridization (FISH) is the current gold standard for detecting rearrangements in LBCLs, but comprehensive genomic profiling (CGP) has recently been suggested to be at least as accurate as FISH in classifying these neoplasms and providing additional genetic information. METHODS: We analyzed a cohort of 131 patients in whom FISH and CGP studies were performed as part of our normal clinical workflow and compared the effectiveness of FISH and CGP in detecting these clinically relevant rearrangements. RESULTS: Our findings are in agreement with our previously published study, which analyzed a cohort of 69 patients, supporting our hypothesis that the best approach to maximize detection of DHLs while limiting waste seems to be a combination of CGP and MYC break-apart FISH testing, the latter to capture the presence of non-IGH::MYC events. CONCLUSIONS: Our study supports the combined use of FISH and GCP rather than either method alone to better detect MYC and BCL2 (and BCL6) gene rearrangements. CI - (c) The Author(s) 2023. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. FAU - de Lima Guido, Luiz Paulo AU - de Lima Guido LP AUID- ORCID: 0000-0003-2067-9754 AD - Department of Pathology, Jackson Memorial Hospital, Miami, FL, US. AD - Department of Pathology and Laboratory Medicine, University of Miami, Miami, FL, US. FAU - Chapman, Jennifer AU - Chapman J AD - Department of Pathology and Laboratory Medicine, University of Miami, Miami, FL, US. FAU - Cassidy, Daniel P AU - Cassidy DP AD - Department of Pathology and Laboratory Medicine, University of Miami, Miami, FL, US. LA - eng PT - Journal Article PL - England TA - Am J Clin Pathol JT - American journal of clinical pathology JID - 0370470 RN - 0 (Proto-Oncogene Proteins c-bcl-6) RN - 0 (Proto-Oncogene Proteins c-myc) RN - 0 (Proto-Oncogene Proteins c-bcl-2) RN - 0 (BCL6 protein, human) RN - 0 (BCL2 protein, human) SB - IM MH - Humans MH - In Situ Hybridization, Fluorescence MH - Proto-Oncogene Proteins c-bcl-6/genetics MH - *Proto-Oncogene Proteins c-myc/genetics MH - Proto-Oncogene Proteins c-bcl-2/genetics MH - *Lymphoma, Large B-Cell, Diffuse/diagnosis/genetics/pathology MH - Gene Rearrangement MH - Genomics OTO - NOTNLM OT - Comprehensive genomic profiling OT - Diffuse large B-cell lymphoma OT - Double-hit lymphoma OT - Fluorescence in situ hybridization OT - High-grade B-cell lymphoma OT - Large B-cell lymphoma EDAT- 2023/03/08 06:00 MHDA- 2023/07/07 06:42 CRDT- 2023/03/07 14:05 PHST- 2022/10/04 00:00 [received] PHST- 2023/01/16 00:00 [accepted] PHST- 2023/07/07 06:42 [medline] PHST- 2023/03/08 06:00 [pubmed] PHST- 2023/03/07 14:05 [entrez] AID - 7070531 [pii] AID - 10.1093/ajcp/aqad006 [doi] PST - ppublish SO - Am J Clin Pathol. 2023 Jul 5;160(1):41-48. doi: 10.1093/ajcp/aqad006.