Identification of transcripts that appear as an expression of the BCR-ABL fusion gene in patients with oncohematological pathologies

Leukemia are a heterogeneous group of diseases that are distinguished by infiltration of bone marrow, blood and other tissues, by neoplastic cells of the hematopoietic system, by somatic mutation of the stem cell, which according to their evolution are classified as acute and chronicles, and according to their affected cellular line they will be lymphoid or myeloid. Chromosomal anomaly that can always be distinguished by conventional cytogenetic techniques known as Philadelphia chromosome (PH). The PH is presented only in 1 to 2% of patients with acute myeloid leukemia (LMA), but occurs in about 20% of adults and in a small percentage of children with acute lymphoblastic leukemia (LLA). In most children and in more than half of adults with PH positive, the molecular anomaly is different from that presented in chronic myelogenic leukemia (LMC) in which the presence of pH is also detected in a very high percentage. The PH chromosome characterizes a fusion gene called BCR-AB which can be detected by molecular biology techniques where the transcript type can be assessed, in the case of acute leukemia It obliges the optional to use more aggressive chemotherapies associated with the use of TARGET medications that selectively inhibits cell proliferation and induces apoptosis in cell lines favoring disease -free survival. From there arises the importance of detecting the presence of this transcript and its variants, since this will allow recategorizing the patient according to their risk of relapse or possible refreshment to treatment. Unfortunately in the middle it is unknown what type of protein is the one that results from the fusion of the BCR-ABL gene and that isoform is the one that occurs most frequently in order to correlate with what is reported in the literature.

XIV RESEARCH PROJECT COMPETITION