Skip to main navigation menu Skip to main content Skip to site footer
×
Español (España) | English
Editorial
Home
Indexing
Original

Mutations and laboratory diagnosis in acute promyelocytic leukemia

By
Elena Johanna Perez Laborde ,
Elena Johanna Perez Laborde

Universidad Técnica de Ambato. Facultad de Ciencias de la Salud. Carrera de Laboratorio Clínico. Ambato, Ecuador

Search this author on:

PubMed | Google Scholar
Daniela Alexandra Rosero Freire ,
Daniela Alexandra Rosero Freire

Universidad Técnica de Ambato. Facultad de Ciencias de la Salud. Carrera de Laboratorio Clínico. Ambato, Ecuador

Search this author on:

PubMed | Google Scholar
Yajaira Marilin Rueda Castillo ,
Yajaira Marilin Rueda Castillo

Pontificia Universidad Católica del Ecuador Sede Esmeraldas. Carrera de Laboratorio Clínico, Esmeraldas, Ecuador

Search this author on:

PubMed | Google Scholar
Evelin Alexandra Zúñiga Sosa ,
Evelin Alexandra Zúñiga Sosa

Pontificia Universidad Católica del Ecuador Sede Esmeraldas. Carrera de Laboratorio Clínico, Esmeraldas, Ecuador

Search this author on:

PubMed | Google Scholar

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.

How to Cite

1.
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. 19];3:554. Available from: https://conferencias.saludcyt.ar/index.php/sctconf/article/view/554

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

Article metrics

Google scholar: See link

Metrics

Metrics Loading ...

The statements, opinions and data contained in the journal are solely those of the individual authors and contributors and not of the publisher and the editor(s). We stay neutral with regard to jurisdictional claims in published maps and institutional affiliations.