High Resolution Melting Analysis for Rapid Detection of PIK3CA Gene Mutations in Bladder Cancer: A Mutated Target for Cancer Therapy.

PURPOSE: PIK3CA gene mutations have clinical importance and their presence is associated with therapy response. They are also considered as a molecule for targeted therapy. As regards to their importance, genetic variation within a population as well as among different populations, this study was conducted to detect common mutations of exons 9 and 20 and other probable mutations in PIK3CA gene as well as their frequencies in Iranian bladder cancer patients. MATERIALS AND METHODS: Paired tumor and adjacent normal tissues samples were obtained from 50 bladder cancer patients. Mutations of PIK3CA gene were detected using High Resolution Melting (HRM) analysis which is ahighly sensitive, repeatable, rapid, and cost-effective technique. To determine the precision of the HRM analysis, Sanger sequencing analysis was used. RESULTS: The result showed that mutations were present in 10% (5/50) of the subjects. The majority of these cases (4/5) had the mutation(s) in exon 9, spanning over five different mutations, among which three of them were actually novel mutations. Further analysis showed that 2 cases had simultaneous mutations for exon 9. In addition to novel mutations, the PIK3CA mutation rate observed in Iranian bladder patients was not as frequent as previous reports and COSMIC. CONCLUSION: HRM can be used as a rapid and sensitive method for mutation screening. Dysregulation of PIK3CA gene in bladder cancer reveals its potentials as a mechanistic link for cancer development, which in turn suggests its special use in interventional studies for targeted therapy.

Prostate cancer predicting factors: a preliminary report from Tehran.

PURPOSE: To determine the probability of having prostate cancer (PCa) using the combination of serum level of prostate-specific antigen (PSA) and age. MATERIALS AND METHODS: A total of 160 patients and 190 controls were enrolled in this hospital-based case-control study. Using a logistic regression model and the odds ratio of age and PSA level, the probability of PCa was estimated based on serum level of PSA and age of the participants. RESULTS: The mean age of patients with PCa and benign prostatic hyperplasia (BPH) was 67.75 ± 8.81 and 62.07 ± 8.71 years, respectively (P < .000). Using univariate analysis, we found that increase in life decades of the cases almost doubles the risk of having PCa (odds ratio = 1.95; P = .00), and the probability of developing cancer may increase by 74% in ketchup consumers. After multiple variable regressions, it was revealed that the odds of developing PCa increase by 90% only for every decade, and other variables did not have any significant association with PCa. CONCLUSION: In clinical practice, PSA level combined with the age at presentation can be used as predictors of PCa probability and the necessity of biopsy.

High prevalence of AZFb microdeletion in Iranian patients with idiopathic non-obstructive azoospermia.

BACKGROUND & OBJECTIVES: Genetic factors contribute about 10 per cent of male infertility. Among these, genes in azoospermia factor (AZF) region including AZFa, AZFb, AZFc and AZFd on the long arm of Y chromosome are considered most important for spermatogenesis. Deletions in these regions are thought to be involved in some cases of male infertility associated with azoospermia or oligozoospermia. We studied the incidence of AZF deletions among Iranian infertile men with idiopathic non-obstructive azoospermia. METHODS: A total of 100 Iranian azoospermic infertile men were selected for the molecular study of Y chromosome microdeletions. The presence of 13 sequence tagged site (STS) markers from AZF region was investigated using multiplex polymerase chain reaction (M-PCR). One hundred fertile men were also studied as control group. RESULTS: Twelve (12%) patients showed Y chromosome microdeletions and among these, deletion in AZFb region was the most frequent (66.67%) followed by AZFc (41.67%), AZFd (33.33%) and AZFa (8.33%), respectively. INTERPRETATION & CONCLUSIONS: Because of relatively high incidence of Y chromosome microdeletions among Iranian azoospermic patients, molecular screening may be advised to infertile men before using assisted reproductive treatments.