1. High performance of multiplex fluorescence in situ hybridization to simultaneous detection of BCL2 and BCL6 rearrangements: useful application in the characterization of DLBCLs
- Author
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Anna De Chiara, Giosuè Scognamiglio, Matteo Brunelli, Federica Zito Marino, Andrea Ronchi, Gerardo Botti, Renato Franco, Luigi Panico, Lucianna Sparano, Gabriella Aquino, Immacolata Cozzolino, Serena Pedron, Marino, F. Z., Aquino, G., Brunelli, M., Scognamiglio, G., Pedron, S., Ronchi, A., Cozzolino, I., Sparano, L., Botti, G., Panico, L., De Chiara, A., and Franco, R.
- Subjects
0301 basic medicine ,Male ,0302 clinical medicine ,immune system diseases ,hemic and lymphatic diseases ,MYC Translocation ,Diffuse large B-cell lymphoma (DLBCL) ,Multiplex ,In Situ Hybridization, Fluorescence ,Aged, 80 and over ,Gene Rearrangement ,MYC rearrangements ,medicine.diagnostic_test ,General Medicine ,Middle Aged ,BCL6 ,Multiplex fluorescence in situ hybridisation ,medicine.anatomical_structure ,Phenotype ,BCL2 rearrangements ,Proto-Oncogene Proteins c-bcl-2 ,030220 oncology & carcinogenesis ,Proto-Oncogene Proteins c-bcl-6 ,%22">Fish ,Female ,Original Article ,Lymphoma, Large B-Cell, Diffuse ,Adult ,Biology ,BCL6 rearrangements ,Pathology and Forensic Medicine ,03 medical and health sciences ,Predictive Value of Tests ,medicine ,Biomarkers, Tumor ,Humans ,Genetic Predisposition to Disease ,Molecular Biology ,neoplasms ,B cell ,Aged ,Reproducibility of Results ,Cell Biology ,medicine.disease ,Molecular biology ,BCL6 rearrangement ,Lymphoma ,BCL2 rearrangement ,030104 developmental biology ,Fluorescence in situ hybridisation multiprobe BCL2/BCL6 ,Fluorescence in situ hybridization - Abstract
Chromosomal rearrangements involving BCL2, BCL6 and MYC are commonly found in the most frequent B cell lymphomas, namely follicular lymphomas (FLs) and diffuse large B-cell lymphomas (DLBCLs). Particularly, BCL2-rearrangement represents a diagnostic hallmark in FLs, whereas MYC translocation can occur simultaneously with BCL2 and/or BCL6 rearrangements, defining a specific category of DLBCLs with a poorer prognosis. In this study, we aim to validate the diagnostic performance of multiplex BCL2/BCL6 FISH approach in formalin-fixed paraffin-embedded FLs and DBCLs and cytological samples of DLBCL comparing to the classic set of single break-apart probes. We collected a series of lymphomas, including 85 DLBCLs, 45 FLs and 36 other B-cell lymphoma histotypes and 16 cytological samples of DLBCLs. MYC, BCL2 and BCL6 rearrangements were previously assessed by a classic FISH test using single break-apart probes. All samples were analysed by a multiplex FISH assay. In the FL series, 38 cases showed BCL2-R; in the DLBCLs series, MYC-R was detected in 21 out of 85 DLBCL patients, BCL2-R in 10 out of 85 and BCL6-R in 33 out of 85. In the DLBCL cytological series, MYC-R was detected in 4 out of 16, BCL2-R in 4 out of 16 and BCL6-R in 1 out of 16. Notably, in FFPE, 13 double-hit lymphomas (DHLs) and 3 triple-hit lymphomas (THLs) were detected; in the cytological series, only 3 DHL cases were observed. The dual BCL2/BCL6 FISH probe test results were fully concordant with the results obtained using classic BCL2 and BCL6 single break apart. Particularly, multiplex FISH to simultaneously detect BCL2-R and BCL6-R on a single slide could find a wide application in the characterisation of double- and triple-hit DLBCLs.
- Published
- 2021