The frequency of NPM1 mutations in childhood acute myeloid leukemia.
The frequency of NPM1 mutations in childhood acute myeloid leukemia.
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DOI：
10.1186/1756-8722-3-41
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发表时间：
2010-10-27
影响因子：
28.5
通讯作者：
Tzortzatou-Stathopoulou F
中科院分区：
文献类型：
--
作者：
Braoudaki M;Papathanassiou C;Katsibardi K;Tourkadoni N;Karamolegou K;Tzortzatou-Stathopoulou F
核素（NPM1）基因的突变完全与儿童急性髓样白血病（AML）有关。我们评估了儿童AML中NPM1突变的频率，它们与临床和细胞遗传学特征的关系以及常见的FLT3和RAS突变的存在。
在8％的病例中发现了NPM1突变。它们涉及典型的“ A”突变和一个新型突变，其特征是两个单独的碱基对取代，这导致NPM蛋白中的2种氨基酸变化（W290）和（S293）。在12％的病例中观察到了FLT3/ITD突变，在一个NPM1突变的病例中也观察到T（8; 21）（Q22; Q22）。未发现常见的RAS突变。
观察到了相对一致的NPM1突变率，但突变类型的变化。不同类型的NPM1突变的作用是单独或在存在其他常见基因突变的情况下，对于儿童时期AML预后可能是必不可少的。
Mutations in the nucleophosmin (NPM1) gene have been solely associated with childhood acute myeloid leukemia (AML). We evaluated the frequency of NPM1 mutations in childhood AML, their relation to clinical and cytogenetic features and the presence of common FLT3 and RAS mutations. NPM1 mutations were found in 8% of cases. They involved the typical type 'A' mutation and one novel mutation characterized by two individual base pair substitutions, which resulted in 2 amino acid changes (W290) and (S293) in the NPM protein. FLT3/ITD mutations were observed in 12% of the cases and in one NPM1-mutated case bearing also t(8;21) (q22;q22). No common RAS mutations were identified. A relatively consistent NPM1 mutation rate was observed, but with variations in types of mutations. The role of different types of NPM1 mutations, either individually or in the presence of other common gene mutations may be essential for childhood AML prognosis.
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影响因子：
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