An ATL cell line with an IgH pseudo-rearranged band pattern by southern blotting: a pitfall of genetic diagnosis

Lab Hematol. 2005;11(1):8-13. doi: 10.1532/LH96.04061.

Abstract

Adult T-cell leukemia (ATL), which is a mature T-cell malignancy that develops from human T-cell leukemia virus type-1 (HTLV-1)-infected T-cells, is diagnosed based on morphologic, immunophenotypic, serologic, and genetic characteristics. In particular, Southern blot hybridization (SBH) and polymerase chain reaction analyses for antigen receptor genes and the retrovirus of HTLV-1 provide a diagnostic hallmark for the clonality of leukemic cells and the causative agent of the disease. We report here a case of an ATL cell line, designated as SO4 cells, established from primary ATL cells presenting with an irrational genetic abnormality of the immunoglobulin heavy chain (IgH)-rearranged band in spite of harboring a clonally rearranged T-cell receptor gene and a clonally integrated provirus of HTLV-1 within their genomic DNA. Moreover, fluorescence in situ hybridization analysis using the IgH (14q32) dual-color break-apart probe revealed 3 pair-signals of colocalizing red and green spots, implying 2 intact and 1 amplified 14q32 regions without translocation, where the region contains the IgH gene locus. Although the exact mechanism remains to be elucidated, some alteration of a portion of the amplified 14q32 region seems to have a role in the false-positive band pattern in the SBH. The SO4 cells, in the hematology laboratory, will provide a lesson about the pitfalls of genetic tests for mature T-cell neoplasms and contribute to the genetic elucidation of leukomogenesis as an in vitro model.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blotting, Southern / methods
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 14
  • Gene Rearrangement, B-Lymphocyte*
  • Human T-lymphotropic virus 1 / isolation & purification
  • Humans
  • Immunoglobulin Heavy Chains / genetics*
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia-Lymphoma, Adult T-Cell / diagnosis*
  • Leukemia-Lymphoma, Adult T-Cell / genetics
  • Polymerase Chain Reaction / methods
  • Reproducibility of Results

Substances

  • Immunoglobulin Heavy Chains