[Analysis of RUNX1 Gene Mutation in Patients with Myelodysplastic Syndrome].

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.骨髓增生异常综合症患者RUNX1基因突变分析.探讨骨髓增生异常综合症（MDS）患者中RUNX1基因突变情况，以及与其他基因突变和部分临床参数间的相关性.采用基因组DNA-PCR扩增产物直接测序法检测170例MDS患者中RUNX1、DNMT3A、TET2、IDH1/2、NPM1、FLT3-ITD、C-KIT突变情况.170例患者中RUNX1基因突变检测率为13.5%（23/170），其他基因突变率依次为：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）、c-KIT（0.58%，1/170）。最常见的RUNX1突变共存基因为TET2（5/23）。RUNX1突变组与未突变组患者相比，具有更高的外周白细胞水平及更低的血小板水平，差异均具有统计学意义（P＜0.05）；但在中位年龄、MDS亚型、染色体核型、血红蛋白水平等方面2组间均无统计学差异。对17例RUNX1突变患者及111例未突变患者进行了有效随访，其中8例RUNX1突变的MDS患者进展为急性髓系白血病（AML），白血病转化率为47.05%（8/17），13例RUNX1未突变的MDS患者进展为AML，白血病转化率为11.7%（13/111），差异有统计学意义（P=0.001）.RUNX1突变在MDS患者中有较高的发生率，伴有该突变的MDS患者具有更高白细胞水平、更低的血小板水平、更高的骨髓原始细胞比例及白血病转化率.