Akademik Veri Yönetim Sistemi
International Hereditary Cancers Congress , Antalya, Türkiye, 6 Şubat - 08 Haziran 2025, ss.20, (Özet Bildiri)
Detailed Examination of Patients Diagnosed with Lynch Syndrome: A Single-Center, Descriptive Study
Introduction: Lynch syndrome, also known as Hereditary Non-Polyposis Colorectal Cancer (HNPCC), is a rare, autosomal dominant hereditary cancer predisposition syndrome resulting from pathogenic variants in MLH1, MSH2, MSH6, PMS2, and EPCAM genes. This condition is characterized by an elevated risk for various cancers, including colorectal, endometrial, ovarian, gastric, small intestinal, urinary tract, biliary tract, brain, skin, pancreatic, and prostate cancers.
Objective: This study aimed to evaluate the clinical and molecular characteristics of 10 patients diagnosed with Lynch syndrome between 2021 and 2024 at the Eskisehir Osmangazi University Department of Medical Genetics.
Results: The patients' clinical, histopathological, and genetic findings are summarized in Table 1. Among the 10 variants identified in the patients, 7 (70%) were sequence variants detected through sequence analysis, while 3 (30%) were exonic deletions detected by MLPA analysis. The most accounting for 80% of cases, which aligns with existing prevalent cancer type was colorectal cancer, literature. Ovarian cancer (20%), endometrial cancer (20%) and periampullary tumor (10%) were patients (30%), and one observed less frequently. Multiple primary tumors were detected in three patient was diagnosed with Muir-Torre syndrome, a rare variant of Lynch syndrome, who had a history of recurrent basal cell carcinoma, endometrial cancer, and colon cancer. The age at diagnosis of the patients ranged from 24 to 69 years, with an average of 47.9 years. Notably, all variants detected in the patients had been previously reported in the literature. Genetic counseling was provided to all patients, and specific variant analysis was recommended for their family members. In three families, pathogenic variants were identified in asymptomatic individuals, and screening and prevention recommendations were subsequently made by current guidelines.
Conclusion: This study aimed to share the findings of the cases diagnosed with rare Lynch syndrome to highlight the heterogeneity of clinical and genetic findings in patients.
Keywords: Lynch syndrome, hereditary cancer syndromes, colorectal cancer, Muir-Torre syndrome