Cytogenetic and Molecular Profiling of Acute Myeloid Leukemia Patients Presenting to the Adult Hemato-oncology Unit of Kenyatta National Hospital

Abstract

Background-Acute myeloid leukemia is an infrequent disease yet it is associated with high morbidity and mortality. It harbors a unique configuration of cytogenetic abnormalities and molecular mutations that can be detected using microscopic methods and molecular sequencing respectively. These genetic tests are core elements of diagnosis and prognostication in high-income countries. They are routinely incorporated in clinical decision making, allowing for the individualization of therapy. However, these tests are largely inaccessible to most patients in Kenya and therefore no data has been reported on this group of patients. Objective-To determine the chromosomal abnormalities and molecular mutations of patients diagnosed with acute myeloid leukemia presenting to the adult hemato-oncology unit of Kenyatta National Hospital. Design: A cross-sectional descriptive study. Setting: Adult hemato-oncology unit, Kenyatta National Hospital. Subjects: Patients with a morphological diagnosis of acute myeloid leukemia Sampling: Consecutive sampling Methodology- The study participants that met the inclusion criteria and consented/assented to participate were enrolled to a sample size of ten. Peripheral blood samples were collected for conventional metaphase G-banding technique and next generation sequencing methods. A study proforma was used to record the patient’s social demographics, clinical and laboratory data. Study Period: The study was done over a period of three months beginning July- September 2019 Analysis-No descriptive analysis was done due to the small sample size. Descriptive statistics are presented in tables. Results: Ten patients underwent cytogenetic analysis and next generation sequencing using the Ampliseq for Illumina myeloid panel. Cytogenetic studies yielded no results. There were 29 mutations detected across 13 commonly mutated genes. At least one mutation was detected

for all the patients. Three patients with TP53 mutations were classifiable under the ELN adverse prognostic group. Conclusions: The study demonstrated that patients with AML in KNH do have deleterious mutations that impart a unique genomic spectrum for each and every patient and contribute to the heterogeneity of disease outcomes among the patients. Lack of cytogenetic analysis and subsequently the results precludes us from drawing definite conclusions on the prognostic effect of these mutations.