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, mostly mestizo,
as well as environmental factors.
Share and Cite:
C. Paz-y-Miño, M. Eugenia Sánchez, S. Araujo, L. Ocampo, V. Hugo Espín and P. E. Leone, "Cytogenetic and Molecular Characterization of Hematological Neoplasm in an Ecuadorian Population,"
Open Journal of Blood Diseases, Vol. 3 No. 4, 2013, pp. 108-115. doi:
10.4236/ojbd.2013.34022.