Next-generation sequencing (NGS) has rapidly evolved in recent years as an efficientalternative for the genetic analysis of patients with Acute Myeloid Leukemia (AML) andMyelodysplastic Syndrome (MDS).

Analyze the particularities of patients with AML and MDS, perform genetic sequencing onthe DNA of these individuals, using NGS, looking for specific genetic contributions, clinicaland epidemiological relationships, as well as the prognostic value of this heterogeneousgenomic profile.

From the analysis of data from current patients with an NGS report in the study (N = 14), onecan initially observe the prevalence of mutations in the TP53 and EZH2 genes, found in64.2% of the patients studied. Furthermore, the ROS1, SF3B1, TET2 genes also presentedhigh prevalence among patients, totaling 57.1% prevalence alone. Among these, the numberof mutated variants in the ROS1 gene should be highlighted, which presented an average of2.1 mutations per gene. The mutation of the HRAS, PTPN11, WT1, PDGRFB, U2AF1, NRAS, MYD88, IDH2 and DNMT3A genes proved to be the least frequent in the sample,appearing in only 7.69% of patients. Discussion: Knowing the phenotypic characteristics of the mutated genes in the sample, correlations can be made with the molecular findings and patient outcomes. Initially, we can mention an81-year-old female patient, accompanied by low-risk MDS, with no indication ofhematopoietic stem cell transplantation(HSCT) and without the need for transfusion, where amutation of the SF3B1 gene was found, which is related to a good prognosis, especially whencommutated with the TET2 gene, which is also present.Next one is a 72-year-old patient,who has an indication for HSCT, the large number of mutations in genes that predict poor prognosis, such as NPM1, SRSF2, ETV6, TP53 and U2AF1, were highlighted, in which thelast two genes mentioned would be indicators of high risk of leukemic evolution. One canalso mention a patient, female, who died at the age of 81, in which it would be important tohighlight in the genomic profile the mutations in the EZH2 and FLT3 genes, since this patient presented transformation from MDS to AML, an outcome highly correlated with the presenceof these genes. Finally, we also evaluated a 59-year-old patient with transformed AML, whounderwent HSCT and developed post-transplant relapse, where we can highlight the BCORgene mutation, which would be highly related to negative outcomes in overall survival.

Therefore, we can see that the correlation of negative outcomes related to the genes NPM1,SRSF2, TP53, ETV6, FLT3, EZH2 and U2AF1. Among these, the evolutionary character ofFLT3 can be highlighted, which is highly linked to MDS transformations in LMA.The protective nature of the SF3B1 gene should also be highlighted, which is frequentlyfound in low-risk patients with a good survival rate.