Jose A. Franco Quintanilla, MD1, Alfredo Camero, MD1, Harsh D. Patel, MD2, Amy E. Schindler, MD1
1University of Texas Health, San Antonio, TX; 2University of Texas Health Science Center, San Antonio, TX
Introduction: Colorectal polyposis syndromes are rare but, when present, can increase someone’s risk of colorectal cancer up to 100%, such as in the setting of familial adenomatous polyposis. Advances in genomics have identified several well-established hereditary cancer syndromes; however, with ongoing research, many patients are left without a formal diagnosis. Clinical presentations vary widely. We present a case of a 62-year-old man with a polyposis syndrome found incidentally during workup for multiple myeloma and the clinical dilemma it presented.
Case Description/Methods: A 62-year-old man undergoing staging workup for newly diagnosed multiple myeloma had abnormal computerized tomography (CT) and positron emission tomography (PET) imaging of the gastrointestinal (GI) tract. His CT scan demonstrated intraluminal densities in the rectosigmoid region and his PET scan showed increased FDG avidity of these lesions along with others in the descending colon (Image 1 and 2). The patient had no symptoms related to the GI tract. He had no relevant surgical history, and there was no family history of colon cancer or other GI disease. He had a 46pack-year smoking history. A colonoscopy was performed, which showed marked left-sided colonic polyposis. Two additional colonoscopies were performed over the next week, and a total of eighty-one polyps were removed. Most left-sided polyps were between 1-3 cm, and many had large pedunculated stalks (Image 3). Pathology showed all polyps to be tubular adenomas with six of them having high-grade dysplasia. Genetic testing using a 17-gene panel for colorectal cancer predisposing mutations was negative.
Discussion: Our patient had clinical signs of a colorectal polyposis syndrome but was in a clinical conundrum, as he was only recently diagnosed with widespread multiple myeloma and was due to start potentially cytotoxic chemotherapy. Our decision to perform such extensive polypectomy was to decrease polyp burden, evaluate for high-risk features, and potentially diagnose early adenocarcinoma. Genetic testing did not identify a culprit gene, but with his clinical features and high-grade dysplasia colectomy was recommended. A multidisciplinary approach between hematology and colorectal surgery is being pursued after initial rounds of chemotherapy. This case highlights the variety in which polyposis syndromes can present, discussion of extent of polypectomy at time of colonoscopy, and importance of a multidisciplinary approach.
Citation: Jose A. Franco Quintanilla, MD; Alfredo Camero, MD; Harsh D. Patel, MD; Amy E. Schindler, MD. P0195 - 81 COLONIC POLYPS - AN INCIDENTAL FINDING AND CLINICAL DILEMMA. Program No. P0195. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.