Resumo

CANIZALEZ, Jenny Zadis et al. BCR-ABL gene transcripts in venezuelan patients with chronic Myeloid Leukemia. Saber [online]. 2015, vol.27, n.3, pp.422-429. ISSN 2343-6468.

Chronic Myeloid Leukemia (CML) disease is characterized cytogenetically by t(9q,22q)(q34,q11), which produces the hybrid gene: BCR-ABL on chromosome 22q known as Ph (+). The main published transcripts correspond to b2 / a2, b3 / a2, e2a2 and e19a2, whose sizes depend on the breakpoint that occurs in the chromosomes. The objective of this study was to determine the BCR-ABL transcripts present in Venezuelan patients with CML. Ninety bone marrow samples were analyzed from patients diagnosed with CML. Chromosomal analysis was performed by conventional cytogenetic techniques and molecular biology techniques (RT-PCR). It was found that 96.6% of the cases presented the Ph (+) chromosome and 3.3% a normal karyotype, being the most frequent transcripts b3a2 (50.0%), b2a2 (40.0%) and the co-expression of transcripts b3a2 / b2a2 and e1a2 / b3a2 in (6.6%) and (3.3%), respectively. Variants of the transcripts b3a2 and b2a2 found in this study are similar to those reported in the literature, indicating the similarity of the distribution of the major transcripts of this rearrangement found in the patients evaluated with those in populations geographically close or racially similar. These results support the usefulness of the methodology of molecular biology applied to achieve a more accurate diagnosis of CML through the detection of BCR-ABL rearrangement, which has been identified as important in choosing the most appropriate therapy depending on the type of transcripts found and their responsiveness to treatment. At the same time, they justify further studies with larger numbers of patients with chronic myeloid leukemia.

Palavras-chave : Chronic Myeloproliferative Disorder; RT-PCR.

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