Department of Pediatrics, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.
Pediatr Blood Cancer. 2010 Dec 15;55(7):1406-9. doi: 10.1002/pbc.22758.
A 6-year-old Japanese female was diagnosed as having myeloid/NK cell precursor acute leukemia (MNKL) using immunocytochemical analysis. The patient was treated by cord blood transplantation from an HLA 1-locus mismatched unrelated donor after chemotherapy comprising cytosine arabinoside, idarubicin, etoposide, and L-asparaginase. We detected a nonsense mutation, C7412A, resulting in S2471X, where X is a terminal codon, in the PEST domain of NOTCH1 in this patient. The presence of the NOTCH1 activating mutation in MNKL might suggest a possible role in the leukemogenesis of MNKL.
一位 6 岁的日本女性通过免疫细胞化学分析被诊断为髓系/NK 细胞前体急性白血病（MNKL）。该患者在接受包含阿糖胞苷、伊达比星、依托泊苷和 L-门冬酰胺酶的化疗后，通过 HLA 1 个位点不合的无关供者脐带血移植进行治疗。我们在该患者的 NOTCH1 的 PEST 结构域中检测到一个无意义突变，C7412A，导致 S2471X，其中 X 是一个终止密码子。MNKL 中 NOTCH1 激活突变的存在可能提示其在 MNKL 的白血病发生中起作用。
