Additional acquisition of t(1;21)(p32;q22) in a patient relapsing with acute myelogenous leukemia with NUP98-HOXA9

作者：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

来源：International Journal of Hematology, 2008, 88(5): 571-574.

DOI：10.1007/s12185-008-0198-9

• AML
• t(1
• 21)
• t(7
• 11)
• NUP98-HOXA9
• Clonal evolution

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.

• 出版日期2008-12