Jung Chae Lim, Kim Hee-Jin, Kim Dong-Hwan, Huh Heejae, Song Min-Jung, Kim Sun-Hee
Assistant Professor, Department of Laboratory Medicine & Genetics, Samsung, Medical Center, Sungkyunkwan, University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul, Korea.
Ann Clin Lab Sci. 2011 Spring;41(2):193-6.
Gain-of-function mutations of the CKIT gene have been reported to specifically occur in core-binding factor (CBF) acute myeloid leukemia (AML) with a poor prognostic implication. Here we report a case of therapy-related AML with t(9;11)(p22;q23) who had CKIT mutation. A 48-year-old woman with breast cancer received partial mastectomy followed by 6 cycles of adjuvant chemotherapy and radiation therapy. At 28 months from the diagnosis of breast cancer, she was diagnosed as having AML with blasts 81% in bone marrow. Cytogenetic analysis revealed t(9;11)(p22;q23), and FISH showed 96.5% of MLL break-apart signals. RT-PCR study revealed MLL(11q23)/MLLT3(9p22) chimeric transcript. FLT3-ITD and NPM1 mutations were both negative. Unexpectedly, mutation analyses for CKIT identified D816Y mutation. The patient received induction chemotherapy and achieved complete remission at 1 month. To the best of our knowledge, this is the first report on CKIT mutation in therapy-related AML with MLL rearrangement.
据报道，CKIT基因的功能获得性突变特别发生在伴有不良预后的核心结合因子（CBF）急性髓系白血病（AML）中。在此，我们报告一例伴有t(9;11)(p22;q23)的治疗相关AML患者发生CKIT突变的病例。一名48岁乳腺癌女性接受了部分乳房切除术，随后进行了6个周期的辅助化疗和放射治疗。在乳腺癌诊断28个月后，她被诊断为AML，骨髓中原始细胞占81%。细胞遗传学分析显示t(9;11)(p22;q23)，荧光原位杂交（FISH）显示96.5%的MLL断裂信号。逆转录聚合酶链反应（RT-PCR）研究显示MLL(11q23)/MLLT3(9p22)嵌合转录本。FLT3内部串联重复（FLT3-ITD）和核仁磷酸蛋白1（NPM1）突变均为阴性。出乎意料的是，CKIT突变分析发现了D816Y突变。该患者接受了诱导化疗，并在1个月时达到完全缓解。据我们所知，这是关于伴有MLL重排的治疗相关AML中CKIT突变的首例报告。
