title: A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism.
abstract: Constitutional trisomy 8 mosaicism (CT8M) has been considered to be the first mutation in multistep carcinogenesis. We describe the case of a 38-year-old woman with a normal phenotype who developed to acute monocytic leukemia with a novel t(8;18)(q13;q21). Chromosome analysis and spectral karyotyping showed 47,XX,+8,t(8;18)(q13;q21)[20]. Fluorescence in situ hybridization (FISH) demonstrated that the breakpoint at 18q21 was centromeric to the MALT1 and BCL2 genes. FISH also revealed that trisomy 8 was detected in buccal mucosa cells, indicating that trisomy 8 was a constitutional abnormality. These results suggest that t(8;18)(q13;q21) had a crucial role in the development of leukemia as the second mutation following CT8M.
authors.affiliation: Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Atsuo
authors.initials: A
authors.lastname: Okamura
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kawano
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Katayama
authors.forename: Manabu
authors.initials: M
authors.lastname: Shimoyama
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Matsui
mesh_terms: D000328:Adult; D002887:Chromosomes, Human, Pair 18; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009030:Mosaicism; D032681:Spectral Karyotyping; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*