title: t(1;3)(p36;p21) is a recurring therapy-related translocation.
abstract: Chromosome bands 1p36 and 3p21 are known to be recurring breakpoints in therapy-related (t-) leukemia. We identified a recurring translocation, t(1;3)(p36;p21), in eight patients with various hematologic malignancies: three patients with ALL, one with chronic myelogenous leukemia (CML) in accelerated phase (AP), two with MDS, and two with AML(M3). Five of the eight patients had a history of chemotherapy, including alkylating agents in three, before the translocation was detected. In two of these five patients, the t(1;3)(p36;p21) emerged only at relapse or in the accelerated phase of CML. The karyotypes of the patients were complex, including -7 and structural abnormalities of 5q, 6q, 7q, 9p, and 11q23. Survival time varied among patients (25 days to more than 16 years). Using FISH with 13 1p35-36 cosmid probes (tel-FB12-CA5-G7-FD2-CB1-ED8-FD9-G32-AE3-G50-AD8-GG4-G43-cen), we delineated the 1p36 breakpoint in two patients with MDS and ALL as lying between FB12 and FD2 (between BAC47P3 and PAC963K15), with a small deletion near the breakpoint in both cases. In the patient with MDS, there was also a deletion at 3p21.3, as detected with the cosmid probe cosNRL9. The results of the present study suggest that t(1;3)(p36;p21) in hematologic diseases is associated with prior exposure to mutagens, including alkylating agents.
authors.affiliation: Division of Molecular Cytogenetics, Department of Clinical Pathology, Research Institute of International Medical Center of Japan, Tokyo, Japan. ysato@ri.imcj.go.jp
authors.forename: Yuko
authors.initials: Y
authors.lastname: Sato
authors.forename: Tohru
authors.initials: T
authors.lastname: Izumi
authors.forename: Hirakazu
authors.initials: H
authors.lastname: Kanamori
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Davis
authors.forename: Yasusada
authors.initials: Y
authors.lastname: Miura
authors.forename: Richard A
authors.initials: RA
authors.lastname: Larson
authors.forename: Michelle M
authors.initials: MM
authors.lastname: Le Beau
authors.forename: Keiya
authors.initials: K
authors.lastname: Ozawa
authors.forename: Janet D
authors.initials: JD
authors.lastname: Rowley
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D019457:Chromosome Breakage / Q000235:genetics; D002874:Chromosome Mapping / Q000379:methods; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000139:chemically induced / Q000235:genetics / Q000473:pathology; D015473:Leukemia, Promyelocytic, Acute / Q000139:chemically induced / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000139:chemically induced / Q000235:genetics / Q000473:pathology; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000139:chemically induced / Q000235:genetics / Q000473:pathology; D012008:Recurrence; D014178:Translocation, Genetic / Q000187:drug effects* / Q000235:genetics*