Cytogenetic and molecular characterization of hematological neoplasm in an Ecuadorian population

Abstract:

Cancer is one of the major causes of mortality in Ecuador and annually, hematological malignancies are within the top ten most common cancers. In this multicentric study, we analyzed a series of patients diagnosed with different hematological disorders between the years 1984 and 2012. Chromosome abnormalities were detected in 1886 (45.9%) patients. FISH and RT-PCR techniques were used in order to determine the presence of genetic rearrangements and complement conventional cytogenetics results. Using FISH and RT-PCR, positive cases were increased by 1.8% and 6.9% respec- tively. We analyzed fusion genes resulting from t(8;21), t(15;17), inv(16), t(9;22), 11q23 rearrangements, t(4;11) and t(1;19). The frequency of transcripts of some of these fusion genes was of particular interest as our results differ from studies on other populations. Specifically, the fusion gene BCR-ABL was present in the form of the b2/a2 transcript in 95% of CML patients and in the form of b3/a2 transcript in the remaining 5%. The PML-RARA fusion gene also showed a distinct pattern of transcript expression. This fusion gene exhibited the bcr2 (36%) and bcr3 (64%) transcripts, how- ever the bcr1 transcript was absent from our sample population. All cases carrying the CBFB-MYH11 fusion gene ex- hibited the F transcript. This was also of interest due to the rarity of this particular transcript worldwide. Finally all cases carrying the MLL-AF4 fusion gene displayed the e7-e8 transcript. The frequency of the subtypes of some fusion genes differ from those reported in other populations, possibly due to the particular genetic make-up of the Ecuadorian population …

Año de publicación:

2013

Keywords:

Fuente:

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