Performance of MYC, BCL2, and BCL6 break-apart FISH in small biopsies with large B-cell lymphoma: a retrospective Cytopathology Hematopathology Interinstitutional Consortium study
Year: 2024
Type: article
Study design: Observational Study
Abstract: Introduction Fluorescence in situ hybridization (FISH) is an essential ancillary study used to identify clinically aggressive subsets of large B-cell lymphomas that have MYC, BCL2 , or BCL6 rearrangements. Small-volume biopsies such as fine needle aspiration biopsy (FNAB) and core needle biopsy (CNB) are increasingly used to diagnose lymphoma and obtain material for ancillary studies such as FISH. However, the performance of FISH in small biopsies has not been thoroughly evaluated or compared to surgical biopsies. Methods We describe the results of MYC, BCL2, and BCL6 FISH in a series of 222 biopsy specimens, including FNAB with cell blocks, CNBs, and surgical excisional or incisional biopsies from 208 unique patients aggregated from 6 academic medical centers. A subset of patients had FNAB followed by a surgical biopsy (either CNB or excisional biopsy) obtained from the same or contiguous anatomic site as part of the same clinical workup; FISH results were compared for these paired specimens. Results FISH had a low hybridization failure rate of around 1% across all specimen types. FISH identified concurrent MYC and BCL2 rearrangements in 20 of 197 (10%) specimens and concurrent MYC and BCL6 rearrangements in 3 of 182 (1.6%) specimens. The paired FNAB and surgical biopsy specimens did not show any discrepancies for MYC or BCL2 FISH; of the 17 patients with 34 paired cytology and surgical specimens, only 2 of the 49 FISH probes compared (4% of all comparisons) showed any discrepancy and both were at the BCL6 locus. One discrepancy was due to necrosis of the CNB specimen causing a false negative BCL6 FISH result when compared to the FNAB cell block that demonstrated a BCL6 rearrangement. Discussion FISH showed a similar hybridization failure rate in all biopsy types. Ultimately, MYC, BCL2 , or BCL6 FISH showed 96% concordance when compared across paired cytology and surgical specimens, suggesting FNAB with cell block is equivalent to other biopsy alternatives for evaluation of DLBCL or HGBCL FISH testing.
Source: Frontiers in Oncology
Authors: Joshua R. Menke, Umut Aypar, Charles D. Bangs, Stephen L. Cook, Srishti Gupta, Robert P. Hasserjian, Christina S. Kong, Oscar Lin, Steven R. Long, Amy Ly, Jacob A. S. Menke, Yasodha Natkunam, Roberto Ruiz-Cordero, Elizabeth Spiteri, Julia Ye, Sara L. Zadeh, Dita A. Gratzinger
Institutions: Stanford Medicine, Stanford University, Memorial Sloan Kettering Cancer Center, San Francisco VA Medical Center, San Francisco VA Health Care System, Veterans Administration, Massachusetts General Hospital, University of California, San Francisco, University of Miami, University of Virginia
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,295
Funder: National Cancer Institute
Award: Cancer Center Support Grant
OpenAlex ID: W4399523939
