Mutaciones y diagnóstico de laboratorio en la leucemia promielocítica aguda

Elena Johanna Perez Laborde; Daniela Alexandra Rosero Freire; Yajaira Marilin Rueda Castillo; Evelin Alexandra Zúñiga Sosa

doi:10.56294/sctconf2024554

Original

Published: 2024-05-07

DOI: https://doi.org/10.56294/sctconf2024554

Mutations and laboratory diagnosis in acute promyelocytic leukemia

Abstract

Introduction: Acute Promyelocytic Leukemia (APL) is a unique subtype of acute myeloid leukemia (AML) characterized by proliferation and accumulation of abnormal promyelocytes in the bone marrow. It arises from a balanced translocation between chromosomes 15 and 17, involving the retinoic acid receptor alpha (RARA) gene on chromosome 17 and the promyelocytic leukemia (PML) gene. It has a higher incidence in young adults.
Objective: To establish the mutations associated with acute promyelocytic leukemia and the techniques that aid in its clinical diagnosis.
Methodology: A systematic review of 19 scientific articles published in the databases of PubMed, Scopus, Google Scholar and the Virtual Library of the University of Granada was carried out. The data collected focused on acute promyelocytic leukemia, acquired, secondary or somatic mutations and laboratory diagnosis.
Results: Of a total of 1730 patients 67.7% had the t(15;17) mutation, of 682 patients 26.7% had the FLT3-ITD mutation and of 175 patients 16% had the FLT3-D835 mutation. Laboratory diagnosis is based on morphological evaluation of promyelocytes, hemostasis tests, biochemical tests Immunophenotyping and molecular cytogenetics.
Conclusions: The mutation associated with APL is the promyelocytic leukemia/retinoic acid receptor alpha (PML-RARA) gene, the same that presents a t(15;17), secondary mutations or somatic mutations such as (FLT3-ITD or FLT3-D835) were also known. Multiparametric flow cytometry is one of the most widely used techniques for the diagnosis of APL, allowing the determination of cell morphology and immunophenotypes.

Keywords:

Acute Promyelocytic Leukemia,

Acute Myelocytic Leukemia M3,

laboratory diagnosis,

mutation,

How to Cite

Perez Laborde EJ, Rosero Freire DA, Rueda Castillo YM, Zúñiga Sosa EA. Mutations and laboratory diagnosis in acute promyelocytic leukemia. Salud, Ciencia y Tecnología - Serie de Conferencias [Internet]. 2024 May 7 [cited 2024 Jul. 1];3:554. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/554

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The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

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