Chronic Myeloid Leukemia is a myeloproliferative abnormality that affects blood cells.
Found in over 95% of Chronic Myeloid Leukemiacases, the Philadelphia Chromosome is the
result of reciprocal translocation between chromosomes 9 and 22 (t9,22), being the first
neoplasm whose development was related to Philadelphia Chromosome. Tyrosine kinase are
the first lines of treatment for chronic Myeloid Leukemia, but failures in therapeutic responses
are associated with the presence of genetic variability in metabolic pathways. DNA
polymorphisms observed in transporter genes are investigated as influencing factors for the
variability of responses to Tyrosine kinase Inibidors and can be considered molecular markers
of pharmacogenetic relevance. The aim of this study was to conduct an epidemiological
survey and to investigate the allelic distribution of polymorphisms in the multidrug resistance
genes: ABCC1, ABCC2 and ABCC3, in biological samples collected from Chronic Myeloid
Leukemia patients undergoing Tyrosine kinase Inibidors in the city of Macapá / AP The
epidemiological survey was performed through medical records research and the application
of questionnaires to patients. Molecular investigation was performed by collecting peripheral
blood and oral scraping in patients from the Dr. Alberto Lima Clinical Hospital. The sample
DNA was extracted by the Mebep Bioscience Blood Kit / Tissue DNA Mini Kit (Ludwing
Biotec). Genotyping was performed by the Life Technologies (California, USA) QuantStudio
12K flex system on 20 biological samples. The observed epidemiological data indicated a
higher incidence of cases in the city of Macapá, in male groups, in addition to patients under
the age of 45 (median of 38.5 years) and with a median age of diagnosis of 3.5 years.
Responses to treatment indicated that 65% of patients achieved good response to Imatinib
therapies, achieving a median treatment time of 3.5 years. SNP genotyping did not indicate
significant statistical associations for the clinical outcomes raised by the study with the
investigated genotypes. Despite obtaining unprecedented epidemiological information, more
molecular studies are needed in mixed populations such as this study, helping to expand
knowledge about the pharmacogenetic data of the Brazilian population.
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