Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9
Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9
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DOI：
10.1007/s12185-008-0198-9
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发表时间：
2008-12-01
影响因子：
2.1
通讯作者：
Akashi, Koichi
中科院分区：
文献类型：
--
作者：
Aoki, Takatoshi;Miyamoto, Toshihiro;Akashi, Koichi
我们报告一位29岁日本男性急性髓系白血病(AML)-M4合并隐匿性t(7；11)(p15；p15)，聚合酶链式反应分析发现NUP98-HOXA9嵌合融合，染色体分析显示46，XY。患者接受了强化化疗和自体干细胞移植，NUP98-HOXA9基因消失证实病情缓解。移植后6个月，患者复发，再次检测NUP98-HOXA9，核型分析显示46，XY，t(1；21)(p32；q22)。用AML1-ETO易位双探针进行荧光原位杂交(FISH)分析表明，21q22断裂点与AML1基因座有关。回顾FISH分析显示，t(1；21)在发病时缺失。这是报道的第一例AML患者，其隐匿性t(7；11)(p15；p15)，并在复发时额外获得t(1；21)(p32；q22)。
We report a 29-year-old Japanese male with acute myelogenous leukemia (AML)-M4 with a cryptic t(7;11)(p15;p15), in which a chimeric NUP98-HOXA9 fusion was detected by polymerase chain reaction analysis and a chromosomal analysis showed 46,XY. The patient received intensive chemotherapy and underwent autologous stem cell transplantation, and remission was confirmed by the disappearance of NUP98-HOXA9. However, 6 months after transplantation, the patient relapsed; NUP98-HOXA9 was detected again and karyotypic analysis revealed 46,XY, t(1;21)(p32;q22). Fluorescent in situ hybridization (FISH) analysis using an AML1-ETO translocation dual probe, showed that the 21q22 breakpoint involved AML1 locus. A retrospective FISH analysis showed that t(1;21) was absent at onset. This is the first reported case with AML who had a cryptic t(7;11)(p15;p15), and additionally acquired t(1;21) (p32;q22) at relapse.