Double- and triple-hit lymphomas can present with features suggestive of immaturity, including TdT expression, and create diagnostic challenges

Leuk Lymphoma. 2016 Nov;57(11):2626-35. doi: 10.3109/10428194.2016.1143939. Epub 2016 Feb 18.

Abstract

Double- and triple-hit lymphomas (DHL/THL) are aggressive B-cell neoplasms characterized by translocation of MYC with concurrent BCL2 and/or BCL6 translocation. In this retrospective study from one institution, we report clinicopathologic features of 13 cases (9 DHL/4 THL). The median age was 59 years (range 30-74) and patients included eight females and five males. Presentation included enlarging lymphadenopathy/masses (11 patients) and abnormal peripheral blood findings (2 patients). Features which raised the differential of an immature neoplasm included terminal deoxynucleotidyl transferase positivity (four cases, two THL/two DHL); dim CD45 expression (seven cases), lack of CD20 (two cases), or lack of surface immunoglobulin light chain (three cases) by flow cytometry; and blastoid morphology (two cases). We conclude that expression of TdT in a B-cell lymphoma with mature features or expression of surface light chain in a case otherwise suggestive of B-lymphoblastic leukemia/lymphoma should prompt an expedited evaluation for DHL/THL.

Keywords: B lymphoblastic leukemia/lymphoma; B-cell lymphoma unclassifiable; diffuse large B-cell lymphoma; double-hit lymphoma; triple-hit lymphoma.

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor*
  • Cell Transformation, Neoplastic / genetics*
  • Cell Transformation, Neoplastic / metabolism
  • Cell Transformation, Neoplastic / pathology*
  • Chromosome Aberrations
  • Combined Modality Therapy
  • DNA Nucleotidylexotransferase / genetics*
  • DNA Nucleotidylexotransferase / metabolism
  • Female
  • Gene Expression*
  • Humans
  • Immunohistochemistry
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Lymphoma, B-Cell / diagnosis
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / pathology*
  • Lymphoma, B-Cell / therapy
  • Male
  • Middle Aged
  • Neoplasm Grading
  • Neoplasm Staging
  • Retrospective Studies

Substances

  • Biomarkers, Tumor
  • DNA Nucleotidylexotransferase