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CES Medicina

Print version ISSN 0120-8705

Abstract

PEREZ, Aura Cristina; PRADA-ARISMENDY, Jeanette; CASTILLO PENUELA, Erwing  and  CASTELLANOS, William. Detection of the PML-RARα fusion gene in Colombian patients with acute myeloid leukemia. CES Med. [online]. 2019, vol.33, n.2, pp.88-99. ISSN 0120-8705.  https://doi.org/10.21615/cesmedicina.33.2.2.

Introduction:

acute promyelocytic leukemia is a subtype of acute myeloid leukemia characterized by the presence of a translocation between chromosomes 15 and 17, which causes the formation of a fusion gene called PML/RARα. Determining the presence of this fusion gene is critical for these patients, since their presence makes the diagnosis of the disease, even with no pathology results This research seeks to adjust and implement a highly sensitive and specific test for the diagnosis of this cytogenetic abnormality.

Methods:

peripheral blood samples from patients diagnosed with acute myelocytic leukemia were collected in two institutions of Antioquia (Colombia), from which RNA was extracted and nested RT-PCR was performed, adjusting a previously published protocol.

Results:

we adjusted and standardized a method to detect the PML/RARα fusion gene by RT-PCR. Using this technique, translocation was identified in four patients (22%) of the studied cohort.

Conclusions:

our results agree with previous studies. The detection of this and other cytogenetic alterations by means of molecular tests will allow to have valuable information at the level of diagnosis and prognosis of patients with AML in Antioquia.

Keywords : Leukemia, Myeloid, Acute; Leukemia, Promyelocytic, Acute; Promyelocytic Leukemia Protein; Polymerase Chain Reaction.

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