BRCA and Beyond: Comprehensive Image-rich Review of Hereditary Breast and Gynecologic Cancer Syndromes.

In addition to the well-characterized BRCA1 and BRCA2 hereditary breast and ovarian cancer syndromes, many other syndromes that are associated with genetic mutations predispose individuals to an increased risk of breast and gynecologic malignancies. Many mutated genes encode for tumor-suppressor products and are inherited in an autosomal dominant manner. Mutations markedly increase an individual's lifetime risk of cancers in different organ systems, depending on the associated syndrome. These syndromes include Lynch syndrome, the most common hereditary cause of endometrial cancer, and Peutz-Jeghers syndrome, which increases the risks of breast cancer, ovarian cancer, and cervical adenoma malignum. Li-Fraumeni syndrome and Cowden syndrome increase the risk of breast cancer, and Gorlin syndrome increases the risk of ovarian fibromas. With advances in genetic testing, clinicians' knowledge and awareness of the numerous additional genes associated with breast and ovarian cancers, such as ATM, CHEK2, and PALB2, are rapidly expanding. Radiologists have essential roles in patient management, which include developing optimal screening protocols for these patients and closely monitoring them for the development or recurrence of disease-specific malignancies. Radiologists' roles continue to increase and evolve as more mutations are identified and high-risk imaging screening recommendations expand to identify these patients. Understanding the epidemiologic, genetic, and pathophysiologic features and the cancers associated with these syndromes enables radiologists to appropriately contribute to patient management, ensure accurate and timely diagnosis, and make syndrome-specific imaging recommendations. ©RSNA, 2020.

A Puzzling Case of Pouch Pathology.

A 36-year-old man with familial adenomatous polyposis secondary to an adenomatous polyposis coli mutation status post proctocolectomy with ileal pouch-anal anastomosis presented with hematochezia. Pouchoscopy revealed a 4-cm indurated mass in the distal ileal pouch just 17 months after a normal pouchoscopy. Histopathology was diagnostic for Burkitt lymphoma, and the patient achieved complete remission with subsequent chemotherapy. Although there are reports of Burkitt lymphoma in patients with ileal pouch-anal anastomosis, to date, this is the first report in a patient with familial adenomatous polyposis. This case highlights the presentation of a rapidly enlarging tumor not commonly seen in the adult gastroenterology population.