title: Chromosomal translocations are common in natural killer-cell lymphoma/leukemia as shown by spectral karyotyping.
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.
authors.affiliation: Department of Clinical Oncology at the Sir Y.K. Pao Centre for Cancer, The Chinese University of Hong Kong, Shatin.
authors.forename: N
authors.initials: N
authors.lastname: Wong
authors.forename: K F
authors.initials: KF
authors.lastname: Wong
authors.forename: J K
authors.initials: JK
authors.lastname: Chan
authors.forename: P J
authors.initials: PJ
authors.lastname: Johnson
mesh_terms: D002871:Chromosome Banding; D002896:Chromosomes, Human, Pair 6; D002898:Chromosomes, Human, Pair 8; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007694:Killer Cells, Natural; D007945:Leukemia, Lymphoid / Q000235:genetics*; D008223:Lymphoma / Q000235:genetics*; D014178:Translocation, Genetic; D014960:X Chromosome