Clinicopathological and prognostic significance of BCL2, BCL6, MYC, and IRF4 copy number gains and translocations in follicular lymphoma: a study by FISH analysis

Leuk Lymphoma. 2020 Dec;61(14):3342-3350. doi: 10.1080/10428194.2020.1815017. Epub 2020 Sep 13.

Abstract

BCL2 translocation is the genetic hallmark of follicular lymphoma (FL). Besides BCL2 translocation, copy number (CN) gains and translocations of BCL6, MYC, and IRF4 have also been detected in FL, but there is little information regarding their prognostic significance. This retrospective study used fluorescence in situ hybridization (FISH) to analyze BCL2, BCL6, MYC, and IRF4 translocations and CN gains in 105 FL cases. Genetic translocations were detected for BCL2 (n = 64; 72.7%), BCL6 (n = 14; 15.9%), and MYC (n = 2; 2.3%); no case showed IRF4 translocation. Overall, 23 (26.1%), 30 (34.1%), 12 (13.8%), and 10 (11.0%) cases showed CN gains in BCL2, BCL6, MYC, and IRF4, respectively. BCL6 CN gain was a prognostic factor for worse overall survival, demonstrating a trend toward significance in multivariate analysis (HR =8.769, p = 0.056). BCL6 CN gain in FL might be associated with aggressive biologic behavior.

Keywords: BCL6; copy number; fluorescence in situ hybridization; follicular lymphoma; translocation.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • DNA Copy Number Variations
  • DNA, Neoplasm / analysis
  • Female
  • Genes, myc / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Interferon Regulatory Factors / genetics*
  • Interferon Regulatory Factors / metabolism
  • Lymphoma, Follicular / genetics*
  • Lymphoma, Follicular / pathology*
  • Male
  • Middle Aged
  • Prognosis
  • Proto-Oncogene Proteins c-bcl-2 / genetics*
  • Proto-Oncogene Proteins c-bcl-2 / metabolism
  • Proto-Oncogene Proteins c-bcl-6 / genetics*
  • Proto-Oncogene Proteins c-bcl-6 / metabolism
  • Retrospective Studies
  • Tissue Array Analysis
  • Translocation, Genetic

Substances

  • BCL2 protein, human
  • BCL6 protein, human
  • Biomarkers, Tumor
  • DNA, Neoplasm
  • Interferon Regulatory Factors
  • Proto-Oncogene Proteins c-bcl-2
  • Proto-Oncogene Proteins c-bcl-6
  • interferon regulatory factor-4