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

被引：7
|
作者：
Yamamoto, Katsuya [1 ]
Okamura, Atsuo [1 ]
Kawano, Hiroki [1 ]
Katayama, Yoshio [1 ]
Shimoyama, Manabu [1 ]
Matsui, Toshimitsu [1 ]
机构：
[1] Kobe Univ, Grad Sch Med, Dept Med, Kobe, Hyogo 6500017, Japan
来源：
CANCER GENETICS AND CYTOGENETICS | 2007年 / 176卷 / 02期
关键词：
D O I：
10.1016/j.cancergencyto.2007.04.008
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
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. (C) 2007 Elsevier Inc. All rights reserved.
引用
收藏
页码：144 / 149
页数：6
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