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

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• 作者：Katsuya Yamamoto ; Atsuo Okamura ; Hiroki Kawano ; Yoshio Katayama ; Manabu Shimoyama ; Toshimitsu Matsui
• 关键词：Antibacterial ; Skin graft ; Fixation ; Infection ; Graft reject
• 刊名：Cancer Genetics and Cytogenetics
• 出版年：2007
• 期刊代码：43_01654608
• 类别：med
• 出版时间：15 July 2007
• 卷：176
• 期：2
• 页码：144-149
• 文件大小：1166 K

摘要

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.