First Time Mexican Report of Next Gene Sequencing (NGS) Panel in Newly Diagnose Acute Myeloid Leukemia (AML). Series of Cases

Background: Acute Myeloid Leukemia a heterogeneous disease. Molecular alterations were described since 2010, and the combination of them have led to predict a better prognosis in the myeloid leukemia patients. NGS is a technique developed to identified these mutations and panels for each disease are being use. The cost and the equipment were unavailable for a lot of countries and institutions, but the need of these studies world wide have led to reduce the cost of the procedures leading to availability for better classification and treatment of patient with these disease.

Methods: We perform the ilumina panel of 37 genes to all the newly diagnosed acute myeloid leukemia by NGS. Variant Plex somatic reagents, for ilumina core myeloid -37 archer brand, MiSer Reagent Kit v2, ilumina, PhiX control V3 ilumina. Genes: ABL1, CEBPA, DDX41, KRAS, SETBP1, WT1, ZRSR2, SF3B1, MPL, GATA1, CSF3R, ANKRD26, ASXL1, DNMT3A, GATA2, NPM1, SRSF2, STAG2, NRAS, IDH1, ETNK1, BCOR, BRAF, ETV6, IDH2, PHF6, TET2, TP53, PTPN11, JAK2, EZH2, CALR, CBL, FLT3, KIT, RUNX1, U2AF1. From December 2020, until may 2023 a total of 47 patients with newly diagnose acute myeloid leukemia, at the National Cancer Institute in Mexico City. And 8 patients in relapse acute myeloid leukemia. 39 de novo, 8 secondary.

Results: Total of 47 patients, male:29 (61%,) female: 18 (38.3%). From de 47 patients, 39 were de novo AML (83%) and 8 patients secondary (17%)

Morfología Classification of AML MO:1 patient 2.1%, CML (Chronic Myeloid Leukemia) 2 patients 4.3%, Sarcoma 3 patients 6.4%, M3- 6 patients 12.8%, M4: 19 patients 40.4%, M5: 4 patients, 8.5%, M2 :6 patients 12.8%, MDS (Myelodysplastic Syndrome) 2 patients 4.3%, lymphoma 1= 2.1%, Solid tumors 3: 6.4%. By range Age 18-25: 7patients = 14.9%, 26-35 years: 11 patients 23.4%, 36-45 years: 5 patients 10.6%, 46-55 years: 9patients 19.1%, 56-65 years: 9 patients 19.1%, 66-75 years: 5 patients 10.6%, 76-85 years: 1 patient 2.1%.

Sub analysis M3: 50% Male and 50% Female, Age: 16-35:3 cases 50%, 36-45 años: 2 cases: 33%, de 56-65: 1 case: 16.7%. We are only going to reporte Tier 1 and 2 mutations. Mutations frequency: KRAS:7 (14.9%), ATRX: 4 (8.5%), NF1 4 ( 8.5%), NOTCH1 4 (8.5%), STAG2: 12 (25.5%),DNMT3A: 16 (34%), EZH2:9 (19.1%), SRSF2: 9 (19.1%),BCOR:4 (8.5%), FLT3: 10 (21.3%), NRAS: 4(8.5%), SF3B1: 5 (10.6%), CBL : 2 (4.3), ASXL1 36 (76.6%), U2AF1: 3 (6.4%), BRAF: 4 (8.5%), TP53: 28 (59.6%), CALR: 3 (6.4%), FBXW7 1 (2.1%), PTPN11: 3 (6.4%), PTEN: 2 (4.3%), ABL1: 1 (2.1%), SETBP1: 3 (6.4%), KIT: 10 (21.3%), TET2: 10 (21.3%), RUNX1: 4 (8.5%), CEBPA: 33 (70.2%), WT1: 6 (12.8%), IDH1: 4 (8.5%), NPM1: 5 (10.6%),CSF3R: 4 (8.5%), JAK2: 1(2.1),IDH2: 1 (2.1%), GATA2:9 (19.1%)

Discusion There is no evidence that support de Molecular map of Mexican Patients with acute myeloid Leukemia, this is one of the first works presenting the results os Mexican Patients. Molecular Mutations are present in all patient, the role of epigenetic and environment to produce this type of disease is important to understand the molecular basis of the disease in Mexican population living in Mexico, and being exposure to different triggers.