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The identification of  MYC  rearrangements in several mature B-cell neoplasms is critical for diagnostic and prognostic purposes. Commercially available fluorescence in situ hybridization (FISH) probe sets, including  IGH/MYC  dual-color dual-fusion (D-FISH) and  MYC  break-apart probes (BAPs), serve as the primary methodology utilized to detect  MYC  rearrangements. However, performing either  IGH/MYC  D-FISH or  MYC  BAP FISH studies in isolation has been reported to result in false-negative results because of the complex nature of 8q24 rearrangements involving the  MYC  gene region. We report a 60-yr-old male with newly diagnosed high-grade B-cell lymphoma with a negative  MYC  BAP study, but with positive  BCL2  and  BCL6  BAP studies. Per our current laboratory algorithm to concurrently interrogate the  MYC  gene region with both  MYC  BAP and  IGH / MYC  D-FISH probe sets, we performed  IGH/MYC  D-FISH studies and detected an  IGH/MYC  fusion. To further characterize the discrepant  MYC  results obtained by FISH, a next-generation sequencing strategy, mate-pair sequencing (MPseq), was performed and revealed a small insertion (∼200 kb) of the  IGH  locus downstream from the  MYC  gene that was undetectable by  MYC  BAP studies. This case highlights the importance of utilizing both  IGH/MYC  D-FISH and  MYC  BAP sets to detect potential cryptic  MYC  rearrangements and also demonstrates the power of MPseq to characterize complex structural rearrangements and copy-number abnormalities unappreciable by FISH.

molecular case studies

Elucidating a false-negative MYC break-apart fluorescence in situ hybridization probe study by next-generation sequencing in a patient with high-grade B-cell lymphoma with IGH/MYC and IGH/BCL2 rearrangements