Li Tian-Tian, Li Jun, Geng Ying-Hua, Zhang Feng, Liu Lin, Yang Yan-Li
Department of Hematology, The First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui Province, China.
Department of Hematology, The First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui Province, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Feb;28(1):76-81. doi: 10.19746/j.cnki.issn.1009-2137.2020.01.013.
To investigate the mutation rate and distribution of Homo sapiens neuroblastoma RAS viral oncogene homolog (NRAS) gene in the patients with acute myeloid leukemia.
The genomic DNA of bone marrow was screened by polymerase chain reaction (PCR) and sequencing for NRAS mutations. At the same time, the mutations of ASXL1, DNMT3A, TET2, CEBPA, FLT3, IDH2, NPM1 and c-KIT genes were also detected to analyze the relation with NRAS mutations.
A total of 11 NRAS mutations were found in 108 patients with initial acute myeloid leukemia and the mutation rate was 10.2%, including 6 cases of G12D, 3 cases of G13D, and 2 cases of G61K. In the mutation group, the peripheral blood leukocyte count was higher (P＜0.05), more likely to occur in the M subtype, and the M subtype was mutually exclusive (P＜0.05). Moreover, the mutant group was more likely to express CD13 than the non-mutation group (P＜0.05), while no statistic difference was found in age, gender, hemoglobin level, platelet count, lactate dehydrogenase level, bone marrow blast, cytogenetics, complete remission rate and overall survival (P＞0.05).
The mutation of NRAS gene has no effect on the prognosis of AML patients.
探讨急性髓系白血病患者中人类神经母细胞瘤RAS病毒癌基因同源物（NRAS）基因的突变率及分布情况。
采用聚合酶链反应（PCR）和测序技术对骨髓基因组DNA进行NRAS突变筛查。同时，检测ASXL1、DNMT3A、TET2、CEBPA、FLT3、IDH2、NPM1和c-KIT基因的突变情况，分析其与NRAS突变的关系。
108例初诊急性髓系白血病患者中共发现11例NRAS突变，突变率为10.2%，其中G12D突变6例，G13D突变3例，G61K突变2例。突变组外周血白细胞计数较高（P＜0.05），更易发生于M亚型，且M亚型相互排斥（P＜0.05）。此外，突变组比非突变组更易表达CD13（P＜0.05），而在年龄、性别、血红蛋白水平、血小板计数、乳酸脱氢酶水平、骨髓原始细胞、细胞遗传学、完全缓解率和总生存率方面未发现统计学差异（P＞0.05）。
NRAS基因突变对急性髓系白血病患者的预后无影响。
