No abstract

Abstract“Cloaca” is a term used to describe an anomaly in the female where a single orifice is located in the perineum draining both urogenital and gastrointestinal tracts. Few reports used the same term “cloaca” to describe the counterpart anomaly in the male. We present two “male” cases of anorectal anomalies associated with significant penile deformity (caudally displaced penis) that were managed during the period between January 2010 and September 2021. Characteristically, both cases had a single “central” perineal orifice. The latter was located anterior to the predestined site of the normal anus and just beneath a caudally positioned hypospadiac phallus. The caudal displacement of the penis was strikingly obvious by the presence of severe form of penoscrotal transposition. Both cases were associated with a perineal swelling (hamartoma) just beside the central perineal orifice. The urethra was very short (like that in the female), besides the single perineal orifice, which makes the presentation very similar to cloacal anomalies.

Background. Genetic aberrations and epigenetic alterations have been reported in different types of cancer. Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNAmethyltransferase (MGMT) in glioblastoma (GB) have been of great interest due to their implications in prediction of prognosis of several types of cancer. It was aimed to investigate the clinical role of IDH1 mutation and MGMT methylation pattern among GB patients versus non-neurooncological diseases (NND) patients and their impact on survival criteria. Methods. Formalin-Fixed Paraffin-Embedded (FFPE) tissue sections of 58 GB and 20 non-onconeurological diseases patients were recruited and IDH1 mutation were detected using Cast-PCR technology and MGMT methylation was detected using Methyl II quantitative PCR approach. Their results were assessed with other clinicopathological criteria and correlated with survival patterns (progression free survival [PFS] and overall survival [OS]). Results. IDH1 mutation was detected among 15 GB cases (15/58) and it was not reported among NND (P=0.011). Receiver operating characteristic (ROC) curve were plotted to discriminate between MGMT methylation among studied groups. Patients with MGMT methylation ≥ 66% was reported as high methylation, which was recorded significantly in 51.7% and 100% of GB cases and NND, respectively. Both showed significant difference with performance status, while MGMT methylation was significantly related with tumor size and tumor location. IDH1 mutation and MGMT methylation reported significant increase with GB patients revealed complete response to treatment. Survival pattern was better for IDH1 mutation and MGMT high methylation as compared to IDH1 wild type or MGMT low-moderate methylation, respectively and favorable survival was detected when both were combined than using either of them alone. Conclusion. Detection of IDH1 mutation and MGMT methylation among GB patients could aid in prediction of their response to treatment and their survival patterns, and their combination is better than using any of them alone.

Background. Genetic aberrations and epigenetic alterations have been reported in different types of cancer. Impact of Isocitrate dehydrogenase1 (IDH1) and O6-methylguanine-DNAmethyltransferase (MGMT) in glioblastoma multiforme (GBM) have been of great interest due to their implications in prediction of prognosis of several types of cancer. Authors aimed to investigate the clinical role of IDH1 mutation and MGMT methylation pattern among GBM patients versus non-neurooncological diseases (NND) patients and their impact on survival criteria. Methods. Formalin-Fixed Paraffin-Embedded (FFPE) tissue sections of 58 GBM and 20 non-onconeurological diseases patients were recruited and IDH1 mutation were detected using Cast-PCR technology and MGMT methylation was detected using Methyl II quantitative PCR approach. Their results were assessed with other clinicopathological criteria and assess its correlation with survival patterns. Results. IDH1 mutation was detected among 15 GBM cases (15/58) and it was not reported among NND (P=0.011). Receiver operating characteristic (ROC) curve were plotted to discriminate between MGMT methylation among studied groups. Patients with MGMT methylation ≥ 66% was reported as high methylation, which was recorded significantly in 51.7% and 100% of GBM cases and NND, respectively. Both showed significant difference with performance status, while MGMT methylation was significantly related with tumor size and tumor location. IDH1 mutation and MGMT methylation reported significant increase with GBM patients revealed complete response to treatment. Survival pattern was better for IDH1 mutation and MGMT high methylation as compared to IDH1 wild type or MGMT low-moderate methylation, respectively and favorable survival was detected when both were combined than using either of them alone. Conclusion. Detection of IDH1 mutation and MGMT methylation among GBM patients could aid in prediction of their response to treatment and their survival patterns, and their combination is better than using any of them alone.

Background: Breast-conserving therapy (BCT) is an alternative to mastectomy for treatment of breast carcinoma. Negative surgical margins minimize the risk of local recurrence after breast-conserving surgery. Intraoperative frozen section analysis (FSA) is one method for margin evaluation. Aim of Study:The study aimed to determine the concordance between results of frozen section examination (FSE) and the final paraffin section in assessing margin status in breast conservative surgery and to study re-excision rates and local control of disease in patients subjected to FSE. Patients and Methods:This was a retrospective cohort study, was carried out on 30 women with early breast cancer undergoing breast conservative surgery; at General Surgery Department, Ain Shams University Hospitals, from June 2021 to June 2022. All patients were subjected to Detailed history taking, clinical examination, lab Investigations and Frozen section analysis. Results:The mean age of the study population was 48.53 ±7.82 years and 63.3% of them were older than 50 years with mean BMI was 25.75kg/m 2 and (56.7%) of them were rural. Regarding adjuvant therapy, 13.3% of the patients underwent chemotherapy, 56.7% of the patients underwent endocrine therapy and 10% underwent both therapies. 30%of the patients had positive margins and underwent additional resections. Out of 21 negative margins by FSA there were 2 of them were positive in final section with false negative of 5%. FSA was significant in assessing margin status with sensitivity of 80%, specificity 95%, NPV 94.5%, PPV 88.9% and accuracy of 90%. Conclusion:There is good concordance between results of FSA and the final paraffin section in assessing margin status. Frozen section diagnosis is an accurate method for the assessment of surgical margin clearance.