RESUMO
BACKGROUND: Myeloproliferative disorders are a group of diseases characterized by increased proliferation of myeloid lineage. In addition to JAK2V617F mutation, several mutations in the c-MPL gene have been reported in patients with philadelphia-negative chronic myeloproliferative disorders that could be important in the pathogenesis of diseases. The aim of the present study was to investigate the frequency of c-MPL and JAK2V617F mutations in Iranian patients with Philadelphia-negativemyeloproliferative disorders. MATERIAL AND METHODS: Peripheral blood samples were collected from 60 patients with Philadelphia-negative MPD) Subgroups ET and PMF) and 25 healthy subjects as control group. The mutation status of c-MPL and Jak2V617F were investigated by using Amplification-refractory mutation system (ARMS) and Allele-Specific PCR (AS-PCR), respectively. The results were confirmed by sequencing. RESULTS: Among 60 patients, 34 (56.6%) and 1(1.7%) had Jak2V617F and c-MPL mutation, respectively. Patients with Jak2V617F mutation had higher WBC counts and hemoglobin concentration than those without the mutation (p= 0.005, p=0.003). In addition, for all healthy subjects in control group, mutations were negative. CONCLUSIONS: The present study revealed that the c-MPL mutations unlike the Jak2V617F mutations are rare in Iranian patients with Ph-negative MPNs and the low mutation rate should be considered in the design of screening strategies of MPD patients.
RESUMO
BACKGROUND: To determine a cut-off point of tPSA and PSAD to prevent unnecessary invasive cancer-diagnosing tests in the community. METHODS: This study was performed on 688 consecutive patients referred to our center due to prostatism, suspicious lesions on digital rectal examination and/or elevated serum PSA levels. All patients underwent transrectal ultrasound guided biopsies and obtained PSAD. Serum levels of tPSA and fPSA were measured by chemiluminescence. Comparisons were done using tests of accuracy (AUC-ROC). RESULTS: Prostate cancer was detected in 334 patients, whereas the other 354 patients were suffering from benign prostate diseases. The mean tPSA in case and control groups were 28.32±63.62 ng/ml and 7.14±10.04 ng/ml; the mean f/tPSA ratios were 0.13± 0.21 and 0.26±0.24 in PCa and benign prostate disease groups; the mean PSAD rates were 0.69±2.24, 0.12±0.11, respectively. Statistically significant differences were found (P <0.05). Using ROC curve analysis, it was revealed that AUC was 0.78 for tPSA and 0.80 for f/tPSA. Sensitivity was 71% for the cut-off value of 7.85ng/ml. For f/tPSA ratio, the optimal cut-off value was 0.13 which produced the sensitivity of 81.4% and for PSAD, it was15%. CONCLUSIONS: As this trial is different from the European and American values, we should be more cautious in dealing with the prostate cancer upon the obtained sensitivity and specificity for PCa diagnosis (7.85ng/mL for tPSA, 15% for PSAD and 0.13 for f/tPSA ratio).
