Transformed aggressive γδ-variant T-cell large granular lymphocytic leukemia with acquired copy neutral loss of heterozygosity at 17q11.2q25.3 and additional aberrations

Eur J Haematol. 2014 Sep;93(3):260-4. doi: 10.1111/ejh.12313. Epub 2014 Apr 7.

Abstract

T-cell large granular lymphocytic leukemia (T-LGLL) is a rare indolent lymphoproliferative disorder characterized by cytopenias, splenomegaly, and various degrees of T-cell lymphocytosis, due to a clonal expansion of CD8-positive cytotoxic T-cells. Phenotypic variants of T-LGLL include CD4(+) /CD8(-) T-cells, with dual CD4(-) /CD8(-) /γδ(+) T-cells being even rarer. Cytogenetic abnormalities in T-LGLL have rarely been reported, and there is scientific debate regarding the existence of aggressive or transformed variants of T-LGLL. We report a patient with T-LGLL, γδ variant, with nearly 20-year-long duration of cytopenias before transformation to an unusual clinical scenario, manifesting with marked lymphocytosis >100 × 10(9) /L and infiltration of lymph nodes, tonsils, and subcutaneous tissue. Single-nucleotide polymorphism assays revealed acquired copy neutral loss of heterozygosity at 17q and deletion of 3p21.31, in addition to trisomy 5, monosomy X, and monosomy 21. These genetic abnormalities provided a better understanding of the molecular nature and the potentiality of disease transformation.

Keywords: aggressive γδ variant of T-cell large granular lymphocytic leukemia; cytogenetic abnormalities; profound lymphocytosis; single-nucleotide polymorphism.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Antigens, CD / genetics
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 17
  • Chromosomes, Human, Pair 21
  • Chromosomes, Human, Pair 3
  • Chromosomes, Human, Pair 5
  • Cri-du-Chat Syndrome
  • Diagnosis, Differential
  • Female
  • Gene Expression
  • Humans
  • Karyotyping
  • Leukemia, Large Granular Lymphocytic / diagnosis*
  • Leukemia, Large Granular Lymphocytic / metabolism
  • Leukemia, Large Granular Lymphocytic / pathology*
  • Leukemia-Lymphoma, Adult T-Cell / metabolism
  • Leukemia-Lymphoma, Adult T-Cell / pathology
  • Loss of Heterozygosity
  • Monosomy
  • Receptors, Antigen, T-Cell, gamma-delta / genetics
  • T-Lymphocytes / metabolism
  • T-Lymphocytes / pathology*
  • Trisomy
  • Turner Syndrome

Substances

  • Antigens, CD
  • Receptors, Antigen, T-Cell, gamma-delta

Supplementary concepts

  • Chromosome 21 monosomy
  • Chromosome 5, trisomy 5q