Yamada Ai, Moritake Hiroshi, Kinoshita Mariko, Sawa Daisuke, Kamimura Sachiyo, Iwamoto Shotaro, Yamashita Yuka, Inagaki Jiro, Takahashi Takahide, Shimada Akira, Obara Megumi, Nunoi Hiroyuki
Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Department of Pediatrics, Mie University Graduate School of Medicine, Mie, Japan.
Pediatr Int. 2016 Sep;58(9):905-8. doi: 10.1111/ped.13010. Epub 2016 Jul 27.
Inversion of chromosome 16 [inv(16)] has a good prognosis in acute myeloid leukemia (AML), but additional genetic aberrations influence the outcome. We herein describe the case of a 15-year-old Japanese boy with inv(16) harboring a low-allelic burden internal tandem duplication of FLT3 (FLT3-ITD) and KIT mutations. Conventional chemotherapy eradicated a clone with a low-allelic burden FLT3-ITD mutation, although another clone with a KIT mutation occurred 17 months later. Further investigation is necessary to identify AML with inv(16) conferring poor prognosis, to facilitate appropriate treatment with additional drugs, such as dasatinib or gemtuzumab ozogamicin.
16号染色体倒位[inv(16)]在急性髓系白血病(AML)中预后良好，但其他基因畸变会影响预后。我们在此描述了一名15岁日本男孩的病例，他患有inv(16)，伴有低等位基因负荷的FLT3内部串联重复(FLT3-ITD)和KIT突变。传统化疗根除了携带低等位基因负荷FLT3-ITD突变的克隆，尽管17个月后出现了另一个携带KIT突变的克隆。有必要进一步研究以识别预后不良的inv(16) AML，以便使用达沙替尼或吉妥珠单抗奥佐米星等其他药物进行适当治疗。
