An Insight into the Lynch Syndrome: Retrospective Study of the Pattern of Presentation and Management of Lynch Syndrome in Pakistan

Abstract

Introduction: The primary objective of this study was to evaluate the baseline characteristics of Lynch syndrome (LS). Furthermore, the study aimed to evaluate overall survival (OS) among patients with LS. Materials and Methods: This was a retrospective study of colorectal cancer patients registered from January 2010 to August 2020 with an immunohistochemical diagnosis of LS. Results: A total of 42 patients were assessed. The mean age at presentation was 44 years, with male predominance (78%). Demographic preponderance was from the North of Pakistan (52.4%). The family history was positive in 32 (76.2%) patients. The colonic cancer distribution was 32 (76.2%) on the right side. Most of the patients presented with Stage II disease (52.4%), and the common mutations were MLH1 + PMS2 16 (38.1%) followed by MSH2 + MSH6 9 (21.4%). The 10-year OS was found to be 88.1%. However, the OS was 100% post pancolectomy. Conclusion: LS is prevalent in the Pakistan population, especially in the North of Pakistan. Clinical presentation and survivals are similar to the Western population.