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A 42-year-old female patient with no previous known diseases who had complaints of postprandial epigastric pain and weight loss and who could not be diagnosed by endoscopic biopsy, although gastric cancer was suspected radiologically and endoscopically, was diagnosed with primary gastric tuberculosis by laparotomy and frozen section. Following anti-tuberculosis treatment, a complete clinical, radiological, and endoscopic response was achieved.

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Purpose: Retrorectal tumors (RTs) are a rare incidence and recommendations on the ideal surgical approaches are lacking. This study aimed to evaluate outcomes and follow-up results of patients undergoing excision of RTs at our institution. Methods: A retrospective review was conducted for undergoing surgery for RT between January 2009 and January 2019. Demographic characteristics, presenting symptoms, preoperative diagnostic tests, surgical procedures, histopathological results, intraoperative and postoperative complications, postoperative hospital stay, postoperative 30-day mortality, 90-day unplanned readmission rate, and long-term outcomes were evaluated. Results: Twenty patients with a mean age of 48.3 ± 14.2 were analyzed. The most common presenting complaint was perineal pain (35.0%). Magnetic resonance imaging and computed tomography was preferred in 18 and 2 patients, respectively. Tumor localization was below the level of the third sacral vertebrae in 14 patients for whom the posterior surgical approach was used. No postoperative mortality was recorded at the end of follow-up of 53.8 ± 40 months. Mean length of postoperative hospital stay was 8.6 ± 9.4 days. Ten percent of the patients had unplanned hospital readmission within 90 days after discharge. Recurrence developed in 1 patient, for whom pathology were reported as chordoma. Conclusion: RT should be managed by a multidisciplinary team given the complexity and heterogeneity of these tumors despite the fact that the majority are benign. A good understanding of pelvic anatomy and characterization of lesions through detailed radiological imaging is crucial to optimize surgical planning. Complete surgical resection is key for prolonged disease-free and overall survival of patients diagnosed with RTs.

Certain genetic predisposition factors, such as BRCA1 and BRCA2 mutations play a pivotal role in familial breast cancer development in both males and females. Due to this, the importance and necessity of genetic screening to identify mutations affecting the population is paramount. Undergoing genetic screenings allows for a more knowledgeable risk assessment for the patients and their care providers. The aim of this study was to evaluate the prevalence of BRCA1/BRCA2 mutated genes in the Turkish population among unselected patients. To identify the molecular markers, we utilized a gene panel analysis consisting of BRCA1 and BRCA2 genes, with a next generation sequencing platform (MiSeq System, Illumina). Sequencing was performed using leukocyte DNA from breast cancer patients. In‐silico analysis for novel mutations was carried out using SIFT, PolyPhen2 and MutationTaster. BRCA1 and BRCA2 pathogenic variants were identified in 18 of 129 (14%) patients among the study population; of those 18 patients, seven (39%) were found in the BRCA1 gene and 11 (61%) in the BRCA2 gene. Ten of the eleven BRCA2 variants (90%) were novel mutations. Four of ten (40%) of the novel mutations were determined to be deleterious and six out of ten (60%) were identified as single nucleotide variations. Clinically significant mutations of the BRCA1/BRCA2 genes are related to an increased susceptibility for breast cancer. There is however, little known about BRCA mutations amongst the general population. Thus, it is important that patients are able to undergo genetic screenings and counseling. This also allows for greater care from health care providers and can only facilitate disease prevention which in turn can lead to a decreased cancer morbidity rate.