Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and jumping translocations of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma. NLM AIDSLINE Important note: Information in this article was accurate in 1996. The state of the art may have changed since the publication date.

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Centromeric instability of chromosome 1 resulting in multibranched chromosomes, telomeric fusions, and jumping translocations of 1q in a human immunodeficiency virus-related non-Hodgkin's lymphoma.

Cancer. 1995 Oct 1;76(7):1238-44. Unique Identifier : AIDSLINE MED/96223170
Sawyer JR; Swanson CM; Koller MA; North PE; Ross SW; Department of Pathology, University of Arkansas for Medical; Sciences, Little Rock, USA.


Abstract: BACKGROUND. Acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas are associated with the B-cell chromosomal translocation t(8;14)(q24; q32). The most common secondary chromosome aberrations in these patients involve 1q and are believed to be associated with tumor progression. A mechanism for the origin of these 1q aberrations has not been demonstrated. To their knowledge, the authors report the first human immunodeficiency virus (HIV)-positive patient to have centromeric decondensation and multibranched chromosome aberrations of chromosomes 1 and 16 resulting in telomeric associations and jumping translocations of 1q. METHODS. Tumor cells from peritoneal fluid of an HIV-positive patient were cultured for 24, 48, and 72 hours and analyzed by both conventional G-banding and fluorescence in situ hybridization. RESULTS. G-band analysis showed a stemline with t(8;14)(q24;q32), but also showed the progression from centromeric decondensation to multibranched chromosome configurations of chromosomes 1 and 16. The interchange and duplications of chromosome arms resulted in the gain of extra copies of 1q material on a number of different chromosomes, but also the loss of 16q in at least one sideline and the formation of micronuclei. Fluorescence in situ hybridization analysis demonstrated that micronuclei predominantly involved chromosome 1 and, to a lesser extent, chromosome 16. CONCLUSIONS. The cytogenetic findings in this unique case suggest that immunodeficiency may be a factor involved in centromeric instability, multibranching, and the progression to the subsequent formation of telomeric fusions and multiple unbalanced translocations of 1q (jumping translocations). The striking similarity of the centromeric instability in this patient to those with ICF syndrome (variable immunodeficiency, centromeric heterochromatin instability, and facial anomalies) suggests hypomethylation as the etiologic mechanism for the chromosome instability.
Keywords: Adult Case Report Centromere/*GENETICS *Chromosome Aberrations Chromosome Banding *Chromosomes, Human, Pair 1 Chromosomes, Human, Pair 16 Human In Situ Hybridization, Fluorescence Karyotyping Lymphoma, AIDS-Related/*GENETICS/PATHOLOGY Lymphoma, Non-Hodgkin's/*GENETICS/PATHOLOGY Male Micronuclei/GENETICS/PATHOLOGY Telomere/*GENETICS *Translocation (Genetics) JOURNAL ARTICLEKWDadultcasereportcentromere/KWDgeneticsKWDchromosomeaberrationschromosomebandingKWDchromosomes,human,pair1chromosomes,human,pair16humaninsituhybridization,fluorescencekaryotypinglymphoma,aids-related/KWDgenetics/pathologylymphoma,non-hodgkin's/KWDgenetics/pathologymalemicronuclei/genetics/pathologytelomere/KWDgeneticsKWDtranslocation(genetics)journalarticle
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Copyright © 1996 - National Library of Medicine. Reproduced under license with the National Library of Medicine, Bethesda, MD.

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