骨髓增生异常综合征和伴有5号染色体异常的急性髓系白血病患者中无核磷蛋白突变。

Lack of nucleophosmin mutation in patients with myelodysplastic syndrome and acute myeloid leukemia with chromosome 5 abnormalities.

作者信息

Shiseki Masayuki, Kitagawa Yukiko, Wang Yan-Hua, Yoshinaga Kentaro, Kondo Toshiaki, Kuroiwa Hanae, Okada Michiko, Mori Naoki, Motoji Toshiko

机构信息

Department of Hematology, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

Leuk Lymphoma. 2007 Nov;48(11):2141-4. doi: 10.1080/10428190701615900.

DOI:10.1080/10428190701615900

PMID:17990177

Abstract

Nucleophosmin (NPM1) gene exon 12 mutations are frequently present in patients with acute myeloid leukemia (AML) with normal karyotype. The NPM1 gene is located on chromosome 5q35, which is often affected in myeloid malignancies including myelodysplastic syndrome (MDS). This suggests that the NPM1 gene is a one of the target genes affected by chromosome 5 abnormalities and play a role in the development of MDS. It has not been clarified whether MPM1 mutations are present in patients with MDS and AML with chromosome 5 abnormalities. Therefore, we carried out a mutational analysis on the NPM1 gene exon 12. NPM1 mutations were not detected in the 28 patients with MDS and AML with chromosome 5 abnormalities.

摘要

核磷蛋白（NPM1）基因第12外显子突变常见于核型正常的急性髓系白血病（AML）患者中。NPM1基因位于5号染色体长臂3区5带（5q35），在包括骨髓增生异常综合征（MDS）在内的髓系恶性肿瘤中该区域常受影响。这表明NPM1基因是受5号染色体异常影响的靶基因之一，并在MDS的发生发展中起作用。目前尚不清楚伴有5号染色体异常的MDS和AML患者中是否存在NPM1突变。因此，我们对NPM1基因第12外显子进行了突变分析。在28例伴有5号染色体异常的MDS和AML患者中未检测到NPM1突变。