title: Complex rearrangements involving der(8)t(8;20) and der(14)t(8;14)t(11;14), CCND1, and duplication of IgH constant region in acute plasmablastic leukemia.
abstract: We report on a rapidly fatal case of acute plasmablastic leukemia in a 72-year-old male from The Ukraine, who was 70 km away from Chernobyl at the time of the atomic accident in 1986. Spectral karyotyping and fluorescence in situ hybridization (FISH) studies of a bone marrow sample obtained at diagnosis revealed a hypodiploid karyotype with 45 chromosomes and two novel complex rearrangements, der(8)t(8;20)(p11.2;p?12) and der(14)t(8;14)(p?;p11.2)t(11;14)(q13;q32), with juxtaposition of CH (constant region of IgH) sequences to the oncogene CCND1 (translocated to 14q32). FISH analysis demonstrated that the CH on the der(14) was duplicated.
authors.affiliation: Genetics Branch, Center for Clinical Research, National Cancer Institute, 50 South Drive, Room 1408, Bethesda, MD 20892-8010, USA. knutsent@mail.nih.gov
authors.forename: Turid
authors.initials: T
authors.lastname: Knutsen
authors.forename: Alexander
authors.initials: A
authors.lastname: Vakulchuk
authors.forename: Askold D
authors.initials: AD
authors.lastname: Mosijczuk
authors.forename: Ana
authors.initials: A
authors.lastname: Gabrea
authors.forename: Thomas
authors.initials: T
authors.lastname: Ried
authors.forename: Natalia
authors.initials: N
authors.lastname: Tretyak
mesh_terms: D000368:Aged; D047852:Chernobyl Nuclear Accident; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D056742:Cyclin D2; D016213:Cyclins / Q000235:genetics*; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007952:Leukemia, Plasma Cell / Q000188:drug therapy* / Q000235:genetics* / Q000473:pathology; D008297:Male; D032681:Spectral Karyotyping; D014178:Translocation, Genetic
chemical_list: C080336:CCND2 protein, human; D056742:Cyclin D2; D016213:Cyclins; D007143:Immunoglobulin Heavy Chains