Lynch syndrome (LS) is an autosomal dominant disorder associated with an increased risk of colorectal, endometrial, and other malignancies. This report describes the case of a 53-year-old female patient with a significant family history of colorectal cancer. She presented with metrorrhagia and iron deficiency anemia. Given her strong familial cancer history, besides the transvaginal ultrasound, a colonoscopy was performed despite a recent normal result. The new colonoscopy revealed a vegetative and ulcerated neoplasm at the rectosigmoid junction, confirmed as adenocarcinoma by biopsy. Genetic testing identified a pathogenic MLH1 gene variant (c.2041G>A p.Ala681Thr), confirming LS. The patient was referred for Oncology, Gastroenterology, Surgery, and Genetics consultations. A segmental colectomy was performed along with prophylactic surgery, including hysterectomy and salpingo-oophorectomy. This case highlights the vital role of family physicians in recognizing hereditary cancer syndromes, utilizing genograms to expedite diagnosis, and ensuring proper screening for associated extracolonic malignancies in affected families.
Campelos et al. (Thu,) studied this question.