【摘要】 目的探讨MDS、MDS/AML及原发AML基因突变频谱的异同点及其临床意义。方法选取98例MDS患者、32例MDS/AML患者及234例原发AML患者为研究对象,利用二代测序技术检测基因突变。结果MDS组中突变率较高的基因突变为TET2(16.7%,16/96)、U2AF1(12.0%,6/50)、SF3B1(11.8%,9/76);MDS/AML组中突变率较高的基因突变为TP53(33.3%,2/6)、DNMT3A(30%,6/20)、IDH2(21.1%,4/19);原发AML组中突变率较高的基因突变为FLT3-ITD(18.0%,42/233)、NPM1(16.3%,38/233)、DNMT3A(14.9%,14/94)。DNMT3A(P=0.006)、IDH2(P=0.004)及NPM1(P=0.002)等基因突变在MDS与MDS/AML两组间的突变率有统计学差异;FLT3-ITD(P=0.001)、NPM1(P=0.002)、CEBPA(P=0.011)及IDH2(P=0.019)等基因突变在MDS与原发AML两组间的突变率有统计学差异;所有受检基因突变在MDS/AML与原发AML两组间的基因突变的突变率无统计学差异(P>0.05)。结论 MDS、MDS/AML及原发AML基因突变的突变频谱具有相似性及异质性,从MDS到MDS/AML、原发AML基因突变的变化不仅影响疾病转归及预后而且可帮助鉴别MDS/AML和原发AML。更多还原

【Abstract】 Objective To explore the similarities and differences of spectrum of gene mutations in patients with myelodysplastic syndrome,MDS/AML and de novo acute myeloid leukemia and their clinical significance. Methods 98 patients with MDS,32 patients with MDS/AML,234 patients with de novo AML were selected. Gene mutations were detected by second generation sequencing. Results The most frequent mutations in MDS were as follows: TET2( 16. 7%,16/96),U2 AF1( 12. 0%,6/50),SF3 B1( 11. 8%,9/76); The most frequent mutations in MDS/AML were TP53( 33. 3%,2/6),DNMT3 A( 30%,6/20),IDH2( 21. 1%,4/19); The most frequent mutations in de novo AML were FLT3-ITD( 18. 0%,42/233),NPM1( 16. 3%,38/233),DNMT3 A( 14. 9%,14/94); DNMT3 A( P = 0. 006),IDH2( P =0. 004) and NPM1( P = 0. 002) were statistical difference between MDS and MDS/AML; FLT3-ITD( P = 0. 001),NPM1( P = 0. 002),CEBPA( P = 0. 011) and IDH2( P = 0. 019) were statistical difference between MDS and de novo AML;There were no siatistical significance( P > 0. 05) in the frequency of all detected gene mutations between MDS/AML and AML. Conclusion The spectrum of gene mutation of MDS,MDS/AML and primary AML have similarities and heterogeneity. The changes of gene mutations from MDS to MDS/AML and de novo AML not only affect disease outcome and prognosis,but also help to identify MDS/AML and de novo AML.更多还原