Cytogenetics of Patients with Myelodysplasic Syndrome in Venezuela

The myelodysplastic syndromes are clonal hematological disorders of the stem Cell, and clinically characterized by ineffective hematopoiesis and morphological dispoyesis. The affected patients have a high risk of leukemic transformation. In a total of (n=416) patients studied, (n=247) patients (59.3%) corresponded with a female gender, with an average age of = 59 years (limits 15-99 yrs), and (n=169) male patients (40.6%), with average age of =62 years (limits 09-89 yrs). In (n = 295) studied patients, 71% had normal karyotype 46, XX or 46, XY, where in 16% (n = 66) of the samples cell growth was not attained. In (n = 54) of patient samples, 13% showed karyotype changes, including those frequently reported for MDS; and 11.1% (n = 6) with -Y, 11q 1.8% (n = 1), del20q 3.7% (n = 2), +8 3.7% (n = 2), - 21 1.8% (n = 1), del 7q 1.8% (n = 1), inv3 1.8% (n = 1), complex karyotypes 12.9 % (n = 7) cases. Other alterations include, simple anomalies: +2 1.8% (n = 1), +13 5.5% (n = 3), del17q 1.8% (n = 1), del4p 1.8 %(n=1), del9q 3.7% (n = 2), der21q 3.7 %(n = 2), del17p3 3.7% (n = 2), t (1; 7) 1.8% (n = 1), t (4; 12) 1.8% (n = 1), rob13 1.8% (n = 1); 14, r2 1.8%(n = 1); double anomalies, delXq and del10q (n = 1), del18p and del13q (n = 1). Among other findings, polymorphisms in (n=15) patients (27.7%), such as 1qh + (n = 2), 9qh + (n = 4), 16qh + (n = 3), 14PS + (n = 1), 15ps + (n = 2) , 22ps + (n = 1), inv9 (n = 2). According with IPSS-R karyotypes, samples were classified as very favorable 12.9% (n = 7), pro 3.7% (n = 4), Intermediate 40.7% (n = 22), 1.8% unfavorable ( n = 1) and very favorable 18.5% (n = 12.9).