RESUMO
The most frequent epigenetic alterations in Wilms tumor (WT) occur at WT2, assigned to 11p15. WT2 consists of two domains: telomeric domain 1 (DMRH19) that contains the IGF2 gene and an imprinted maternally expressed transcript (H19) and centromeric domain 2 (KvDMR) that contains the genes KCNQ1, KCNQ1OT1 and CDKN1C. In this work, we used pyrosequencing and MS-MLPA to compare the methylation patterns of DMRH19/KvDMR in blood and tumor samples from 40 WT patients. Normal constitutional KvDMR methylation indicated that most of the epigenetic alterations in WT occur at DMRH19. Constitutional DMRH19 hypermethylation (HM DMRH19) was observed in two patients with Beckwith-Wiedemann syndrome. Pyrosequencing and MS-MLPA showed HM DMRH19 in 28/34 tumor samples: 16/34 with isolated HM DMRH19 and 12/34 with concomitant HM DMRH19 and KvDMR hypomethylation, indicating paternal uniparental disomy. With the exception of one blood sample, the MS-MLPA and pyrosequencing findings were concordant. Diffuse or focal anaplasia was present in five tumor samples and was associated with isolated somatic HM DMRH19 in four of them. Constitutional 11p15 methylation abnormalities were present in 5% of the samples and somatic abnormalities in the majority of tumors. Combined analysis of DMRH19/KvDMR by pyrosequencing and MS-MLPA is beneficial for characterizing epigenetic anomalies in WT, and MS-MLPA is useful and reliable for estimation of DNA methylation in a clinical setting.
RESUMO
OBJECTIVE: To assess the degree of discomfort reported by elderly men when first submitted to digital rectal examination (DRE) in the prevention of prostate cancer and the effect of previous explanations on this complaint. METHODS: A prospective, randomized study in 120 men aged 60 to 80 years, divided into two groups: group A (routine medical appointment) and group B (medical appointment with educational intervention). In group B, the information tools were informal talk with explanations of DRE and prostate cancer, visualization of model of the male pelvis and the anatomical relations with the prostate, DRE simulator and DVD with three-dimensional animation of the pelvic organs. The degree of discomfort was measured by visual scale of pain. We used the chi-square test, with significance at 0.05. RESULTS: There were significant differences between the degree of discomfort mentioned in DRE between the two groups; 81% of group B reported it as mild, while 80% of group A referred it as moderate or intense, with significant p=0.01. The signs and symptoms were the main reason for consultation in 35% of patients; 78% went to be consulted alone and 81% commented on their own examination with their spouses. With no statistical difference, 94.2% in group A and 97.8% in group B repeated the examination the following year and 91.6% in group A and 96.6% in group B reported that the exam was not worse than imagined. All would recommend DRE for relatives or friends. CONCLUSION: Patients who did the first DRE after urological consultation with prior educational clarification on the issue reported significantly less discomfort.
