P1664 - Look Beyond Hemorrhoids in Prolonged Bleeding: A Case of Lynch Syndrome in African American Patient

Yasir Ahmed, MD¹, Mashal Khan, MD², Gowthami Ramar, MD³, Talib Khandokar, MD⁴, Fahad Malik, MD⁴, Amine Hila, MD^2
1United Health Services Hospital, Johnson City, NY; ²United Health Services Hospitals, Binghamton, NY; ³United Health Services, Johnson City, NY; ⁴United Health Services Hospitals, Johnson City, NY

Introduction: Lynch syndrome or hereditary non-polyposis colorectal cancer, is an autosomal dominant condition caused by germ-line mutation of mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, PMS2, or deletions in EPCAM2. It is the most common cause of hereditary colon cancer. Approximately 3% to 5% of all cases of colorectal cancer are thought to be due to Lynch syndrome. According to USPSTF, black adults have the highest incidence of and mortality from colorectal cancer compared with other races. The incidence rate for colorectal cancer was 43.6 cases per 100 000 Black adults from 2013 to 2017.

Case Description/Methods: A 45-year-old male with hypertension was evaluated for worsening bleeding hemorrhoids for 2 months. He had intermittent bleeding since the age of 17, on and off, and he used preparation-H for symptom relief. He was referred to gastroenterology who recommended endoscopic rubber band ligation for grade II internal hemorrhoids and screening colonoscopy. A polypoid mass lesion was seen throughout the proximal sigmoid colon on colonoscopy, which was excised in piecemeal fashion and specimen retrieved for analysis. Biopsy was reported as moderately differentiated adenocarcinoma (grade II) and a background of fragments of tubulovillous adenoma. The carcinoembryonic antigen (CEA) level was 3.10 ng/mL (0.00-3.00 ng/mL). On mismatch repair studies, there was loss of nuclear expression of post-meiotic segregation increased 2 (PMS-2) only, KRAS was detected, while BRAF, NRAS were not detected. Patient subsequently underwent laparoscopic sigmoid colectomy. No residual polyp or invasive neoplasm identified in the resected specimen and 1 of 20 pericolic lymph nodes were positive and one tumor deposit was seen in pericolic fat. Patient reported colon cancer in his father at an unspecified age. He is doing well on adjuvant FOLFOX. Patient tolerated the chemotherapy well.

Discussion: African Americans (AAs) have the highest incidence of and mortality resulting from colorectal cancer (CRC) in the United States. AAs, when compared to Caucasians, have lower CRC screening utilization, younger presentation for CRC, higher CRC prevalence at all ages, and a higher proportion of CRCs before 50 years of age. At present, we have very little information available regarding the genetic mutations predisposing AAs to Lynch syndrome. Further research is warranted. Including race as a factor in CRC screening guidelines and appropriate utilization of genetic testing, resources may improve mortality and survival.


Disclosures:


Yasir Ahmed, MD¹, Mashal Khan, MD², Gowthami Ramar, MD³, Talib Khandokar, MD⁴, Fahad Malik, MD⁴, Amine Hila, MD². P1664 - Look Beyond Hemorrhoids in Prolonged Bleeding: A Case of Lynch Syndrome in African American Patient, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.