Comparison Between Integrated Genomic DNA/RNA Profiling and Fluorescence In Situ Hybridization in the Detection of MYC, BCL-2, and BCL-6 Gene Rearrangements in Large B-Cell Lymphomas

Daniel P. Cassidy, Jennifer R. Chapman, Rafael Lopez, Kyle White, Yao Shan Fan, Carmen Casas, Eric A. Severson, Francisco Vega

Research output: Contribution to journalArticle


OBJECTIVES: To compare fluorescence in situ hybridization (FISH) and a commercially available sequencing assay for comprehensive genomic profiling (CGP) to determine the best approach to identify gene rearrangements (GRs) in large B-cell lymphomas (LBCLs). METHODS: Comparison of standard-of-care FISH assays (including a two-probe approach for MYC; break-apart and fusion probes) and an integrated genomic DNA/RNA sequencing CGP approach on a set of 69 consecutive LBCL cases. RESULTS: CGP detected GRs, including those involving MYC (1), BCL-2 (3), and BCL-6 (3), not detected by FISH. FISH detected non-IgH-MYC (4) and BCL-6 (2) GRs that were not detected by CGP. In four instances, standalone CGP or FISH testing would have missed a double-hit lymphoma. CONCLUSIONS: CGP was superior to FISH in the detection of IgH-MYC rearrangements but was inferior for the detection of non-IgH-MYC rearrangements. Our study demonstrates the rationale for development of a customized approach to identify GRs in LBCLs.

Original languageEnglish (US)
Pages (from-to)353-359
Number of pages7
JournalAmerican journal of clinical pathology
Issue number3
StatePublished - Feb 8 2020



  • MYC
  • Comprehensive genomic profiling
  • FISH
  • Gene rearrangements
  • High-grade B-cell lymphoma
  • Prognosis
  • Sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

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