The role of gene rearrangements for antigen receptors in the diagnosis of lymphoma obtained by fine-needle aspiration. A study of 63 cases with concomitant immunophenotyping

Am J Clin Pathol. 1991 Oct;96(4):479-90. doi: 10.1093/ajcp/96.4.479.

Abstract

To assess the efficacy of performing genotyping in addition to immunophenotyping as an adjunct to cytologic diagnosis, 63 consecutive patients with fine-needle aspirates of lymphoproliferative lesions who had concurrent immunophenotyping and genotyping performed on fine-needle aspirate cell suspensions were studied. Thirty-nine of 63 specimens (62%) that appeared to contain non-Hodgkin's lymphoma and that proved to be of B-cell lineage by genotyping were accurately phenotyped and shown to be monotypic for immunoglobulin light chains by cell suspension immunocytochemistry. Genotyping facilitated lineage assignment and/or confirmed clonality in 17 of 63 specimens (27%) that were difficult to determine based on morphologic data. These include cases of atypical lymphoid proliferations with polyclonal or inconclusive markers (n = 6), peripheral T-cell lymphoma (n = 3), extracutaneous mycosis fungoides (n = 1), lymphoblastic lymphoma (n = 4), null cell lymphoma (n = 1), and specimens with equivocal or technically unsatisfactory markers (n = 2). Based on these results, it is proposed that genotyping for lineage assignment and/or clonality be performed to include cases of atypical lymphoid proliferations, T-cell malignant neoplasms, lymphoid malignant neoplasms with equivocal markers, and differentiation of lymphoid from nonlymphoid neoplasms. Genotyping by antigen-receptor gene rearrangement appears to be redundant in cases with mature B-cell phenotypes that demonstrate monoclonality by immunophenotyping.

MeSH terms

  • Adult
  • Aged
  • Biopsy, Needle
  • Blotting, Southern
  • DNA Probes
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics*
  • Female
  • Gene Rearrangement, B-Lymphocyte*
  • Gene Rearrangement, T-Lymphocyte*
  • Humans
  • Immunophenotyping
  • Lymphoma / diagnosis*
  • Lymphoma / genetics*
  • Lymphoproliferative Disorders / diagnosis
  • Lymphoproliferative Disorders / genetics
  • Male
  • Middle Aged
  • Mycosis Fungoides / diagnosis
  • Mycosis Fungoides / genetics
  • Receptors, Antigen / genetics
  • Receptors, Antigen, B-Cell / genetics*
  • Receptors, Antigen, T-Cell / genetics*

Substances

  • DNA Probes
  • DNA, Neoplasm
  • Receptors, Antigen
  • Receptors, Antigen, B-Cell
  • Receptors, Antigen, T-Cell