Molecular and cytogenetics abnormalities in acute myeloid leukemia at Puerto Rico.

Abstract

e19005 Background: Acute myeloid leukemia (AML) is a highly heterogeneous disease. Specific cytogenetic and molecular features permit stratification of this disease. Prognosis within these categories varies widely. Determining optimal management has been complicated by the multiple molecular disease subsets with different responses to standard therapeutics. The comprehensive genetic analysis of AML in the past 10 years has revealed recurrent, somatically mutated genes, leading to the development of new targeted therapies including inhibitors of FLT3 and IDH. Decisions about the choice of therapy in patients with AML currently depend on the identification of a selected set of genetic markers at diagnosis. At Puerto Rico, AML data of cytogenetic and molecular markers is lacking. According to the Puerto Rico Cancer Registry from 2015 to 2019 a total of 551 cases of AML were reported. The San Juan City Hospital-hematology oncology department is one of the major referral centers on the island for initial evaluation and management of AML. The objective of our retrospective study was to identify the most common cytogenetic and molecular abnormalities present in our population. Patient conditions were stratified as favorable, intermediate, or high risk, in terms of prognosis using the ELN revised 2022 stratification. Methods: This study examined the frequency of molecular markers in newly diagnosed (ND) patients with AML. We evaluated patients that were at least 18 years of age or older with cytogenetic and molecular analysis in a period of 4 years (2019-2022). All data regarding demographic, bone marrow biopsy, cytogenetics, and molecular markers were obtained from electronic medical record at our institution with institutional review board approval. Results: A total of 140 patients with ND AML were identified during the study period. 58% female and 42% male with a median age of 57 years old at time of diagnosis. In terms of molecular markers, the most common were RUNX1 (22%), follow by IDH2 (14%), FLT3-ITD (14%) and TP53 (11%). Complex cytogenetics was identified in 40% patients, and 34% had Myelodysplasia related cytogenetic. Using the ELN 2022 criteria to classify AML patients in terms of risk with cytogenetics and molecular markers, our study revealed 21% favorable risk, 31% intermediate, and 48% adverse. Conclusions: Our study suggests that our population has higher prevalence of AML with myelodysplasia-related gene mutations and molecular related to adverse risks, such as RUNX1. Further studies with appropriate sub-group analysis need to be followed to determine if there is any genetical predisposition on the puertorrican population for myelodysplasia related genes or for RUNX1.