Chromosomal translocations are common in natural killer-cell lymphoma/leukemia as shown by spectral karyotyping

Hum Pathol. 2000 Jun;31(6):771-4. doi: 10.1053/hupa.2000.7625.

Abstract

Natural killer (NK)-cell lymphoma/leukemia is a group of rare but highly aggressive neoplasms. The associated genetic aberrations, as defined by conventional cytogenetics, include 6q deletion and chromosome X copy gain, while translocations have been suggested to be uncommon. In this study, three cases of NK cell lymphoma/ leukemia were investigated by spectral karyotyping (SKY). SKY permitted reinterpretation of the chromosomal alterations defined by G-banding and identified several cryptic translocations. In agreement with G-band, 6q deletion was detected in all 3 cases. Structural rearrangement involving chromosome X was observed in 2 cases, and fluorescence in situ hybridization (FISH) analysis indicated that both translocations involved Xp21-pter. Chromosome 8 translocation was also identified in 2 cases and shared a common breakpoint, 8p23. The present study shows the value of SKY in providing additional information on karyotypic abnormalities. The novel findings of recurring Xp21-pter rearrangements and 8p23 translocation should provide basis for further investigations into the tumorigenesis of NK cell lymphoma/leukemia.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Banding
  • Chromosomes, Human, Pair 6
  • Chromosomes, Human, Pair 8
  • Gene Deletion
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping*
  • Killer Cells, Natural*
  • Leukemia, Lymphoid / genetics*
  • Lymphoma / genetics*
  • Translocation, Genetic*
  • X Chromosome