OBJECTIVE: To investigate the clinical characteristics, coexisting gene mutations and prognosis of acute myeloid leukemia (AML) patients with GATA2 gene mutation.
METHODS: The clinical data of 370 newly diagnosed AML patients treated in our hospital from January 2008 to January 2021 was analyzed retrospectively, the next-generation sequencing technology was used to detect the mutated genes in those patients. The clinical characteristics of AML patients with GATA2 mutations, the co-mutated genes of GATA2 mutations, and the effect of GATA2 mutation on prognosis were analyzed.
RESULTS: A total of 23 patients (6.2%) with GATA2 mutation was detected in 370 AML patients. Compared with GATA2 non-mutation group, patients in GATA2 mutation group were mostly normal karyotypes (P =0.037) and in low-risk cytogenetic stratification (P =0.028). The incidence of CEBPAdm and NRAS in GATA2 mutation group was significantly higher than that in GATA2 non-mutation group (P =0.010, P =0.009). There were no statistically significant differences between the two groups in terms of sex, age, white blood cell count (WBC), platelet count, hemoglobin, bone marrow (BM) blast, induction chemotherapy regimen and CR rate (P >0.05). Among the 23 patients with GATA2 mutation, the most common co-mutated genes were CEBPAdm, NRAS (both 39.1%), NPM1, FLT3, TET2, WT1 (all 17.4%), ASXL1 and IDH1 (both 13.0%). Survival analysis showed that there was no statistical difference in 5-year overall survival (OS) and leukemia-free survival (LFS) rates between patients with and without GATA2 mutations in whole cohort (n=370) (P =0.306, P =0.308). Among 306 patients without CEBPAdm, the 5-year OS and LFS rates in GATA2 mutation group showed an increasing trend compared with GATA2 non-mutation group, but the difference was not statistically significant (P =0.092, P =0.056). Among 64 patients with CEBPAdm, there was no statistically significant difference in 5-year OS rate between the GATA2 mutation group and the GATA2 non-mutation group (P =0.104), but the 5-year LFS rate of the GATA2 mutation group was significantly decreased (P =0.047). Among the 23 patients with GATA2 mutation, 16 cases received the \"3+7\" induction regimen, of which 12 cases received allogeneic hematopoietic stem cell transplantation (allo-HSCT); 7 cases received the \"DCAG\" induction regimen, of which 3 cases received allo-HSCT. The CR rate was not statistically different between the \"3+7\" regimen group and the \"DCAG\" regimen group (P =1.000). The 5-year OS rate and LFS rate in the transplantation group were significantly higher than the chemotherapy group (P =0.021, P =0.020).
CONCLUSIONS: GATA2 mutation is more common in AML patients with normal karyotype and low-risk cytogenetic stratification, and it is significantly associated with CEBPAdm and NRAS co-mutations. The prognostic significance of GATA2 is influenced by CEBPAdm. The choice of \"3+7\" or \"DCAG\" induction regimen in patients with GATA2 mutation does not affect their CR rate, while the choice of allo-HSCT can significantly improved the prognosis compared with chemotherapy only.
UNASSIGNED: 伴GATA2基因突变的急性髓系白血病患者的临床特征及预后分析.
UNASSIGNED: 探讨伴有GATA2基因突变的急性髓系白血病(AML)患者的临床特征、共存突变基因及其对预后的 影响。.
UNASSIGNED: 回顾性分析2008年1月至2021年1月就诊于解放军总医院第一医学中心血液科的370例初诊AML患者的临床资料,应用二代基因测序技术检测其突变基因,分析AML中GATA2突变患者的临床特征、GATA2突变的共变基因及GATA2突变对预后的影响。.
UNASSIGNED: 370例AML患者中,共23例(6.2%)患者检测到GATA2突变。与GATA2未突变组相比,GATA2突变组患者多属于正常核型(P =0.037)且多处于低危细胞遗传学分层(P =0.028), CEBPAdm、NRAS 在GATA2突变组的发生率显著高于GATA2未突变组(P =0.010,P =0.009),两组在性别、年龄、白细胞数、血小板数、血红蛋白、原始细胞数、诱导方案、CR率方面的差异均无统计学意义(P >0.05)。23例伴有GATA2突变的患者中主要共存基因突变依次为 CEBPAdm、NRAS (均为39.1%),NPM1、FLT3、TET2、WT1(均为17.4%),ASXL1、IDH1(均为13.0%)。生存分析结果显示,在整个队列中,伴GATA2突变组患者与不伴GATA2突变组患者5年总生存(OS)及无白血病生存(LFS)率无统计学差异(P =0.306,P =0.308);在306例不伴 CEBPAdm的患者中,GATA2突变组患者较GATA2未突变组患者5年OS率及LFS率均有提高趋势,但差异未达统计学意义(P =0.092,P =0.056);而在64例伴 CEBPAdm的患者中,GATA2突变组患者与GATA2未突变组患者5年OS率无统计学差异(P =0.104),但GATA2突变组患者5年LFS率显著降低(P =0.047)。23例GATA2突变患者中,16例接受“3+7”诱导方案,其中12例接受异基因造血干细胞移植;7例接受“DCAG”诱导方案,其中3例接受移植。“3+7”方案组与“DCAG”方案组相比,CR率无统计学差异(P =1.000)。移植组较化疗组5年OS率及LFS率显著提高(P =0.021,P =0.020)。.
UNASSIGNED: GATA2突变显著多见于核型正常及低危细胞遗传学分层的AML患者,与 CEBPAdm、NRAS 共突变显著相关。GATA2对预后的意义受 CEBPAdm共突变影响。GATA2突变患者诱导方案选择“3+7”方案或“DCAG”方案不影响其CR率,而选择异基因造血干细胞移植相较于化疗能显著改善预后.