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Case Reports
. 2007 Jul 15;176(2):144-9.
doi: 10.1016/j.cancergencyto.2007.04.008.

A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism

Katsuya Yamamoto  1 , Atsuo Okamura, Hiroki Kawano, Yoshio Katayama, Manabu Shimoyama, Toshimitsu Matsui
Affiliations
Case Reports

A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism

Katsuya Yamamoto et al. Cancer Genet Cytogenet. .

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.

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