<i>STK11</i> mutation and fallopian tube histology indicating hysterectomy and bilateral salpingo-oophorectomy in a 40-year-old female

Introduction: Metaplastic fallopian tube changes are usually related to inflammation, infection, and/or deleterious STK11 mutations. While these fallopian tube changes have low incidence, they are clinically important to accurately identify premalignant, somatic pathogenesis in patients with Peutz–Jeghers syndrome (PJS). Case Report: Here we describe a case of a 40-year-old female, with a chronic history of menometrorrhagia, who underwent prophylactic total hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) due to risk of non-epithelial ovarian cancer associated with a de novo, germline heterozygous STK11 exon 6 deletion. The patient’s father had colorectal carcinoma, her mother had endometrial cancer, and her older sister had breast cancer. The patient’s colonoscopy, screening mammograms, endometrial biopsy, and PAP smears were all negative. Sample morphology was negative for high-grade dysplasia and malignancy; however, prophylactic TAH-BSO was performed due to the patient’s positive carrier status, increased risk for gynecological cancers, and mucinous tumors. Conclusion: Currently, there are no studies demonstrating how exclusion of secondary findings in PJS supports prophylactic, life-saving management in a subset of patients with strong genetic predisposition and a family history of breast cancer. Hysterectomy is generally considered a last resort after other treatments have failed in cases of heavy menstrual bleeding. As evident in this case of combined PJS and menorrhagia, a prophylactic surgical procedure was clinically indicated.