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Bol Med Hosp Infant Mex. 2017 Jan - Feb;74(1):13-26. doi: 10.1016/j.bmhimx.2016.07.007. Epub 2017 Jan 27.

[Acute lymphoblastic leukemia: a genomic perspective].

[Article in Spanish]

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Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Cuidad de México, México. Electronic address:
Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Cuidad de México, México.
Unidad de Investigación en Enfermedades Metabólicas y Endocrinas, Hospital Juárez de México, Ciudad de México, México.


In parallel to the human genome sequencing project, several technological platforms have been developed that let us gain insight into the genome structure of human entities, as well as evaluate their usefulness in the clinical approach of the patient. Thus, in acute lymphoblastic leukemia (ALL), the most common pediatric malignancy, genomic tools promise to be useful to detect patients at high risk of relapse, either at diagnosis or during treatment (minimal residual disease), and they also increase the possibility to identify cases at risk of adverse reactions to chemotherapy. Therefore, the physician could offer patient-tailored therapeutic schemes. A clear example of the useful genomic tools is the identification of single nucleotide polymorphisms (SNPs) in the thiopurine methyl transferase (TPMT) gene, where the presence of two null alleles (homozygous or compound heterozygous) indicates the need to reduce the dose of mercaptopurine by up to 90% to avoid toxic effects which could lead to the death of the patient. In this review, we provide an overview of the genomic perspective of ALL, describing some strategies that contribute to the identification of biomarkers with potential clinical application.


Acute lymphoblastic leukemia; Alelos de riesgo; Biomarcadores; Biomarkers; Expression profiles; Farmacogenómica; Genomics; Genómica; Leucemia aguda linfoblástica; Risk alleles

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