Cai Xiao-Hui, Chen Mei-Yu, Chao Hong-Ying, Jiang Nai-Ke, Lu Xu-Zhang, Han Wen-Min, Qin Wei, Jia Zhu-Xia
Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China.
Department of Hematology, The Changzhou Second Hospital Affiliated to Nanjing Medical University, Changzhou 213003, Jiangsu Province, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Feb;28(1):202-208. doi: 10.19746/j.cnki.issn.1009-2137.2020.01.034.
To investigate the mutation of RUNX1 gene in patients with myelodysplastic syndrome (MDS) and its correlation with other gene mutations and some clinical parameters.
The mutations of RUNX1, DNMT3A, TET2, IDH1/2, NPM1, FLT3-ITD and C-KIT in 170 patients with MDS were detected by direct and indirect sequencing of genomic DNA-PCR amplification products.
The RUNX1 mutation was found in 23 patients (13.5 %, 23/170). Among the 170 patients, other most frequent mutation was TET2 (11.2%, 19/170), followed by mutations in DNMT3A (9.4%, 16/170), NPM1 (8.2%, 14/170), IDH2 (4.1%, 7/170)、FLT3-ITD (2.9%, 5/170), IDH1 (1.7%, 3/170) and c-KIT (0.58%, 1/170). The most common coexisting mutations were TET2 (5/23). The RUNX1-mutated group showed significantly higher leukocyte levels, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet counts in comparison with RUNX1 non-mutation group (P＜0.05). whereas there were no statistically significant difference in age, MDS subtype, karyotype and hemoglobin level between 2 groups (P＞0.05). Seventeen patients harboring RUNX1 mutations were followed up and almost 47.05% (8/17) of the patients progressed into acute myeloid leukemia (AML). The rates of transformation into AML in ASXL1-mutation group was significantly higher than that in ASXLL- non-mutation group (47.05% vs 11.7%) (P=0.001).
The incidence of RUNX1 mutation is high in MDS patients. The RUNX1-mutated patients have higher leukocyte level, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet count.
探讨骨髓增生异常综合征（MDS）患者RUNX1基因的突变情况及其与其他基因突变和一些临床参数的相关性。
通过对基因组DNA-PCR扩增产物进行直接和间接测序，检测170例MDS患者RUNX1、DNMT3A、TET2、IDH1/2、NPM1、FLT3-ITD和C-KIT的突变情况。
23例患者（13.5%，23/170）检测到RUNX1突变。170例患者中，其他常见突变依次为TET2（11.2%，19/170）、DNMT3A（9.4%，16/170）、NPM1（8.2%，14/170）、IDH2（4.1%，7/170）、FLT3-ITD（2.9%，5/170）、IDH1（1.7%，3/170）和c-KIT（0.58%，1/170）。最常见的共存突变是TET2（5/23）。与RUNX1未突变组相比，RUNX1突变组白细胞水平显著升高、原始细胞百分比更高、白血病转化率更高且血小板计数更低（P＜0.05）。而两组患者在年龄、MDS亚型、核型和血红蛋白水平方面差异无统计学意义（P＞0.05）。对17例携带RUNX1突变的患者进行随访，近47.05%（8/17）的患者进展为急性髓系白血病（AML）。ASXL1突变组转化为AML的发生率显著高于ASXL1未突变组（47.05%对11.7%）（P = 0.001）。
MDS患者中RUNX1突变发生率较高。RUNX1突变患者白细胞水平更高、原始细胞百分比更高、白血病转化率更高且血小板计数更低。
