Cytogenetic and FMS-like tyrosine kinase 3 mutation analyses in acute promyelocytic leukemia patients

The secondary genetic changes other than the promyelocytic leukemia-retinoic acid receptor [PML-RARA] fusion gene may contribute to the acute promyelocytic leukemogenesis. Chromosomal alterations and mutation of FLT3 [FMS-like tyrosine kinase 3] tyrosine kinase receptor are the frequent genetic alterations in acute myeloid leukemia. However, the prognostic significance of FLT3 mutations in acute promyelocytic leukemia [APL] is not firmly established. In this study, the chromosomal abnormalities were analyzed by bone marrow cytogenetic in 45 APL patients and FLT3 internal tandem duplications [ITD] screening by fragment length analysis and FLT3 D835 mutation by melting curve analysis were screened in 23 APL samples. Cytogenetic study showed 14.3% trisomy 8 and 17.1% chromosomal abnormalities other than t[15;17]. About 13% of the patients had FLT3 ITD, and 26% had D835 point mutation. FLT3 ITD mutation was associated with higher white blood cell count at presentation and poor prognosis. The PML-RARA translocation alone may not be sufficient to induce leukemia. Therefore, we assume that FLT3 mutations and the other genetic and chromosomal alterations may cooperate with PML-RARA in the development of APL disease

Influence of age and gender on association between -765G > C COX-2 genetic polymorphism and gastric adenocarcinoma risk: a case- control study in Iran

The purpose of this study was to investigate the possible influence of age and gender on association between - 765G > C COX-2 genetic polymorphism and gastric adenocarcinoma risk in Iranian patients. The promoter polymorphism of COX-2 gene -765G>C has been described to play an important role in many cancers such as gastric cancer. We carried out single-nucleotide polymorphism analysis in Iranian samples including 91 patients and 91 control normal using PCR-RFLP technique. Statistical analysis revealed no significant association between GG, GC and CC genotypes and risk of gastric adenocarcinoma. However differences were considered significant [P=0.043] for female subjects with C carrier genotypes [GC and CC] and gstric adenocarcinoma when compared with male patients [P=0.645] and control groups [P=0.653]. Also, there was a statistically significant difference between increasing of age and susceptibility for gastric adenocarcinoma [Odd Ratio = 1.125, 95% CI=1.089-1.162]. These results suggested that Iranian C carrier females can be more susceptible for gastric adenocarcinoma in comparison with control group. Also increasing of age should be considered as a risk factor for this disease