NOTCH1 mutations are rare in acute myeloid leukemia
NOTCH1 mutations are rare in acute myeloid leukemia
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DOI：
10.1080/10428190600773339
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发表时间：
2006-11-01
影响因子：
2.6
通讯作者：
Tohda, Shuji
中科院分区：
文献类型：
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作者：
Fu, Lu;Kogoshi, Hanae;Tohda, Shuji
在12个原发性急性髓性白血病（AML）细胞样本和8个AML细胞系中研究了NOTCH 1基因的突变。使用巢式PCR-SSCP分析筛选基因组DNA中的突变，并通过直接测序确认。1例原发性AML患者的PEST基因发生错义突变Pro2439 Leu（7316 C/T）。这种突变不同于以前报道的T细胞急性淋巴细胞白血病，其中超过一半的病例有突变。在完全缓解期患者的样本中未检测到该突变，表明该突变不是单核苷酸多态性。通过免疫印迹和逆转录-聚合酶链反应，突变的样品表达细胞内Notch 1片段和HES 1 mRNA。这是第一篇报道一例伴有NOTCH 1突变的AML病例的文章。突变的确切作用有待确定。
Mutations in the NOTCH1 gene were investigated in 12 primary acute myeloid leukemia (AML) cell samples and eight AML cell lines. Mutations in the genomic DNA were screened using a nested PCR-SSCP analysis and confirmed by direct sequencing. A missense mutation, Pro2439Leu (7316C/T), was found in the PEST domain in one primary AML case. This mutation was different from those previously reported for T-cell acute lymphoblastic leukemia, in which more than half the cases had the mutations. This mutation was not detected in his sample in complete remission, which indicated that the mutation was not a single nucleotide polymorphism. The sample with the mutation expressed the intracellular Notch1 fragment by immunoblotting and HES1 mRNA by reverse transcription-polymerase chain reaction. This is the first paper to present an AML case with NOTCH1 mutation. The precise role of the mutation is to be determined.