From Microscopy to Genetic Sequencing: The Evolution of Diagnostic Techniques for Acute Lymphoblastic Leukemia
Autores/as
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Dayana Fernanda Pico Sánchez
Universidad Técnica de Ambato, Facultad de Ciencias de la Salud, Carrera de Laboratorio Clínico. Ambato, Ecuado
https://orcid.org/0009-0009-8140-8043
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Daniela Alexandra Rosero Freire
Universidad Técnica de Ambato, Facultad de Ciencias de la Salud, Carrera de Laboratorio Clínico. Ambato, Ecuador
https://orcid.org/0000-0002-3212-2710
DOI:
https://doi.org/10.70099/BJ/2025.02.01.11Palabras clave:
conventional karyotyping, FISH, complete blood count, Acute Lymphoblastic Leukemia, NGS, RT-PCRResumen
Acute Lymphoblastic Leukemia (ALL) is a highly heterogeneous hematological disease that affects both children and adults, with cure rates that have increased over the years. This progress is attributed to advancements in diagnostic techniques, which have contributed to earlier and more precise detection, monitoring of ALL progression, and prognosis assessment. The objective of this article is to provide a comprehensive and updated review of the advances in techniques used for diagnosing ALL. It was found that diagnosis begins with results obtained from conventional techniques, such as complete blood count and cellular morphology analysis. However, these must be complemented by more advanced techniques, such as karyotyping, FISH, and RT-PCR, which detect molecular-level alterations and mutations. Additionally, other techniques like NGS, although still limited to research laboratories, continue to provide valuable information. These advancements have significantly improved the identification of molecular subtypes and genetic alterations, which are crucial for risk stratification and prognosis. Nonetheless, conventional techniques remain indispensable as the starting point for subsequent analyses.
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