Based On Next-generation Sequencing Analysis Of Genomic Landscape In Patients With Acute Myeloid Leukemia In Hainan Province

Objective:Based on the development of the Next-generation sequencing,to explore the gene profile of acute myeloid leukemia in Hainan area and analyze the genetic characteristics of acute myeloid leukemia patients in Hainan area Methods:Clinical data of 101 patients with AML(non-APL)newly diagnosed in the Department of Hematology of the First Affiliated Hospital and the Second Affiliated Hospital of Hainan Medical College from April 2018 to October 2022 were collected.The second-generation sequencing technology was used to detect 30 AML-related genes in all AML patients.The relationship between gene mutation frequency and gene co-occurrence in patients with AML in Hainan region was analyzed,and the correlation analysis of AML-related gene mutations in patients with AML aged ≥60 years old and < 60 years old,the good cytogenetic prognosis group,the moderate group and the poor group were analyzed,as well as the clinical characteristics and gene mutation characteristics in patients with normal karyotype and abnormal karyotype.Results:1.101 AML patients were tested for AML-related gene mutations.Gene mutations were detected in 96.04% of AML patients,single gene mutations were detected in 23.76%of AML patients,two gene mutations were detected in 22.77% of AML patients,and three gene mutations were detected in 19.80% of AML patients.14.85% AML patients had 4 gene mutations,and 14.85% AML patients had ≥5 gene mutations.The common gene mutations were DNMT3 A,FLT3,TET2,IDH2,CEBPA,TP53,ASXL1,NRAS,NPM1,BCOR,WT1 and RUNX1.2.NPM1 significantly co-mutates with DNMT3 A,FLT3 and NRAS;WT1significantly co-mutates with KIT,GATA2 and RUNX1;IDH2 significantly comutates with BCOR and DNMT3 A.STAG2 was significantly co-mutated with ETV6,EZH2 and KMT2 A mutations,ASXL1 was significantly co-mutated with SRSF2 mutations,and ETV6 was significantly co-mutated with KMT2 A mutations.3.The white blood cell count,lactate dehydrogenase,albumin,and the proportion of bone marrow primitive and naive cells were higher in AML patients ≥60 years old at the time of initial diagnosis.Mutations in FLT3 and NPM1 genes were more common in AML patients < 60 years old than in AML patients ≥60 years old.More mutations of TET2,TP53 and BCOR genes were found in AML patients ≥60 years old than in AML patients < 60 years old.4.There was no statistical significance in the clinical characteristics of AML patients in different cytogenetic prognostic risk groups.NPM1 mutations were more common in the moderate prognosis group.NPM1 mutations were more common in the moderate prognosis group than in the poor prognosis group.TP53 mutations were more common in the poor prognosis group than in the moderate prognosis group.5.There was no significant difference in the clinical characteristics of AML patients between the normal and abnormal karyotypes.The detection rates of FLT3,NPM1,TP53 and TET2 mutations in the normal karyotype group were significantly higher than those in the abnormal karyotype group.Conclusion:1.Some gene mutations in AML appear together.NPM1 mutations,WT1 mutations,IDH2 mutations,STAG2 mutations and other AML gene mutations are common mutations.2.The white blood cell count,lactate dehydrogenase,albumin,and the proportion of bone marrow primitive and naive cells were higher in AML patients ≥60 years than in patients <60 years.FLT3 and NPM1 mutations were more common in AML patients<60 years old,while TET2 and TP53 mutations were more common in patients ≥60years old.3.NPM1 mutations were more common in the moderate prognosis group than in the poor prognosis group.TP53 mutations were more common in the poor prognosis group than in the moderate prognosis group.4.Mutations in FLT3,NPM1,TP53,and TET2 are common in AML patients with normal karyotype.