IJFANS International Journal of Food and Nutritional Sciences

ISSN PRINT 2319 1775 Online 2320-7876

STUDY OF HEMATOLOGICAL NEOPLASMS IN AN ECUADORIAN POPULATION: MOLECULAR AND CYTOGENETIC CHARACTERIZATION

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Mistry Anuradha Sandesh Kumar ,Dr Rama Kant

Abstract

When it comes to cancer, haematological malignancies are among the top 10 most prevalent cancers in Ecuador each year. Patients diagnosed with various haematological diseases between 1984 and 2012 were studied in this multicenter research. In 1886 patients, chromosomal abnormalities were found in 45.9% of cases. The employment of FISH and RT-PCR methods, in addition to traditional cytogenetics, allowed the detection of genetic rearrangements. Increased positive instances were found using FISH and RT-PCR, respectively. We examined fusion genes originating from translocations (8;21), translocations (15;17), inversions (16), translocations (9;22), 11q23 rearrangements, and translocations (4;11) and t (1;19). Because our findings differed from those of previous research, the frequency of fusion gene transcripts was of special interest. 95 percent of CML patients had the fusion gene BCR-ABL in the b2/a2 transcript, whereas the remaining 5 percent had the fusion gene BCR-ABL in the b3/a2 transcript. PML-RARA fusion gene transcript expression was also different. The bcr2 (36%) and bcr3 (64%) transcripts were present in this fusion gene, while the bcr1 transcript was not found in our sample group. The F transcript was found in all CBFB-MYH11 fusion gene instances. As a bonus, this transcript is quite rare in the globe. MLL-AF4 fusion gene patients all have the transcript E7-E8 in their genomes. Genetic and environmental factors may have contributed to differences in the frequency of several fusion gene subtypes in the Ecuadorian population, which is mostly mestizo.

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