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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 01;76(7):1238-44



Pubmed ID




Scopus ID

2-s2.0-0029160672 (requires institutional sign-in at Scopus site)   38 Citations


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.

Author List

Sawyer JR, Swanson CM, Koller MA, North PE, Ross SW


Paula E. North MD, PhD Professor in the Pathology department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Chromosome Aberrations
Chromosome Banding
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 16
In Situ Hybridization, Fluorescence
Lymphoma, AIDS-Related
Lymphoma, Non-Hodgkin
Micronuclei, Chromosome-Defective
Translocation, Genetic