NOTCH1 mutation in a female with myeloid/NK cell precursor acute leukemia
NOTCH1 mutation in a female with myeloid/NK cell precursor acute leukemia
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患有骨髓/NK 细胞前体急性白血病的女性中的 NOTCH1 突变
DOI：
10.1002/pbc.22758
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发表时间：
2010
影响因子：
3.2
通讯作者：
Arakawa H.
中科院分区：
文献类型：
--
作者：
Shiba N;Kanazawa T;Park MJ;Okuno H;Tamura K;Tsukada S;Hayashi Y;Arakawa H.
通过免疫细胞化学分析，一名 6 岁的日本女性被诊断患有骨髓/NK 细胞前体急性白血病 (MNKL)。该患者在接受阿糖胞苷、伊达比星、依托泊苷和 L-天冬酰胺酶化疗后，接受了来自 HLA 1 位点不匹配的无关供体的脐带血移植治疗。我们在该患者的 NOTCH1 PEST 结构域中检测到一个无义突变 C7412A，导致 S2471X，其中 X 是末端密码子。 MNKL 中 NOTCH1 激活突变的存在可能表明其在 MNKL 的白血病发生中可能发挥作用。儿童血癌。 2010；55：1406–1409。 © 2010 Wiley-Liss, Inc.
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, andL‐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. Pediatr Blood Cancer. 2010;55:1406–1409. © 2010 Wiley‐Liss, Inc.