Clinical, Cytogenetic, and Molecular Findings in a Case of Acute Myeloid Leukemia (AML)

Abstract

Introduction: In Colombia, leukemia is among the top 10 most common cancers, ranking eighth in cancer mortality. Acute Myeloid Leukemia (AML) is a heterogeneous disease with low response rates to treatment and a 5-year survival rate of approximately 20%. Detecting cytogenetic and molecular abnormalities during AML diagnosis is essential for establishing prognosis and treatment plans for patients.

Objective: To report cytogenetic and molecular abnormalities in a patient with AML, emphasizing the importance of integrating cytogenetic and molecular testing into clinical practice.

Materials and Methods: A 43-year-old patient with de novo AML underwent a bone marrow sample collection. Cytogenetic analysis, FISH (Fluorescence In Situ Hybridization), and Sanger sequencing were performed for established AML prognostic genes according to the guidelines for managing this disease.

Results: The patient had a complex karyotype, 8q amplification (RUNX1T1), gains and losses at the TP53 locus confirmed by both cytogenetics and FISH. Additionally, mutations in exon 8, codon 273 of TP53 (p.Arg273Cys and p.Arg273Leu), indicating genome instability. TP53 mutations have been reported in various cancer types and hereditary predisposition syndromes.

Conclusions: The diagnostic and therapeutic complexity of AML necessitates the integration of cytogenetic and molecular testing to comprehensively determine the mutational profile of tumor cells. This approach helps define the most suitable treatment and estimate a prognosis that impacts patient survival.