Aoki Takatoshi, Miyamoto Toshihiro, Yoshida Shuro, Yamamoto Asataro, Yamauchi Takuji, Yoshimoto Goichi, Mori Yasuo, Kamezaki Kenjiro, Iwasaki Hiromi, Takenaka Katsuto, Harada Naoki, Nagafuji Koji, Teshima Takanori, Akashi Koichi
Medicine and Biosystemic Science, Kyushu University Graduate School of Medical Sciences, Fukuoka, Japan.
Center for Cellular and Molecular Medicine, Kyushu University Graduate School of Medical Sciences, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-8582, Japan.
Int J Hematol. 2008 Dec;88(5):571-574. doi: 10.1007/s12185-008-0198-9. Epub 2008 Nov 13.
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.
我们报告了一名29岁的日本男性，患有急性髓系白血病（AML）-M4，伴有隐匿性t(7;11)(p15;p15)，通过聚合酶链反应分析检测到嵌合的NUP98-HOXA9融合基因，染色体分析显示为46,XY。该患者接受了强化化疗并进行了自体干细胞移植，NUP98-HOXA9消失证实缓解。然而，移植后6个月患者复发；再次检测到NUP98-HOXA9，核型分析显示为46,XY,t(1;21)(p32;q22)。使用AML1-ETO易位双探针的荧光原位杂交（FISH）分析表明，21q22断点涉及AML1基因座。回顾性FISH分析显示发病时不存在t(1;21)。这是首例报告的患有隐匿性t(7;11)(p15;p15)且复发时额外获得t(1;21)(p32;q22)的AML病例。
