P3126 - Navigating the Uncharted: A Case of Sporadic Synchronous Colorectal Cancer in a Young Patient With an Unrevealing Genetic Workup

Ahmed Shehadah, MD¹, Sheza Malik, MD¹, Le Yu Naing, MD², Kikelomo Olaosebikan, MD³, Tausif Syed, MD¹, Rutwik Sharma, MD⁴, Amir Mahmoud, MD¹, Zainab Abdalla, MBBS⁵, Jay Bapaye, MD¹, Alshaima Yousef, MBBS¹, Jason Gutman, MD¹, Joel Mcfarland, MD^1
1Rochester General Hospital, Rochester, NY; ²University of Louisville, Louisville, KY; ³Piedmont Athens Regional, Athens, GA; ⁴Unity Hospital, Rochester, NY; ⁵University of Sharjah, Rochester, NY

Introduction: Synchronous colorectal cancer (syCRC) is defined as the simultaneous detection of multiple primary colorectal cancers or the occurrence of additional cancers within six months of the initial diagnosis. Typically, this disease is observed in individuals aged 47 to 79 years. Early diagnosis of syCRC is crucial to prevent the advancement of lesions to advanced stages and the development of metachronous cancer. However, uncertainties remain regarding the treatment, surveillance, and familial genetic testing guidelines for sporadic syCRC cases. This paper presents a case of syCRC in a relatively young patient with an unremarkable genetic workup.

Case Description/Methods: A 32-year-old male with a history of hypertrophic cardiomyopathy presented with intermittent hematochezia and a 30-pound unintentional weight loss over two months. Family history included ulcerative colitis in his mother, colon cancer in his maternal uncle at age 49, and ovarian cancer in his maternal grandmother. Colonoscopy revealed multiple polyps, including an 18 mm polyp in the ascending colon, a 3 cm mass in the transverse colon, a 4 cm sessile mass in the descending colon, and 3-4 cm polyps in the sigmoid and rectum. Histopathologic examination showed poorly differentiated invasive adenocarcinoma. CT abdomen pelvis showed no metastatic disease. PET scan indicated focal uptake in the colon, rectum, and inferior mesenteric artery chain lymph nodes. Microsatellite instability (MSI) testing and immunohistochemistry were negative for abnormalities. (table 1)

The patient underwent total proctocolectomy with ileoanal pouch anastomosis and diverting ileostomy. Residual malignancy was absent in the colon or rectum, with only 1 out of 15 lymph nodes positive for cancer. The patient was classified as stage IIIa (T1N1A). Three cycles of adjuvant chemotherapy were administered, followed by esophagogastroduodenoscopy and pouchoscopy six months post-surgery. Gastrointestinal oncology recommended EGD and proctoscopy at one year and EGD every 2-4 years thereafter.

Discussion: Treatment and post-treatment surveillance of sporadic syCRC and screening for other cancers is challenging as there are no specific guidelines present. An individualized approach is usually practiced. Our case not only represents a unique case of SyCRC in a young patient with negative genetic testing, but also highlights the need for further research to establish guidelines for surveillance and familial genetic testing in such patients with SyCRC and for their families.


Disclosures:


Ahmed Shehadah, MD¹, Sheza Malik, MD¹, Le Yu Naing, MD², Kikelomo Olaosebikan, MD³, Tausif Syed, MD¹, Rutwik Sharma, MD⁴, Amir Mahmoud, MD¹, Zainab Abdalla, MBBS⁵, Jay Bapaye, MD¹, Alshaima Yousef, MBBS¹, Jason Gutman, MD¹, Joel Mcfarland, MD¹. P3126 - Navigating the Uncharted: A Case of Sporadic Synchronous Colorectal Cancer in a Young Patient With an Unrevealing Genetic Workup, ACG 2023 Annual Scientific Meeting Abstracts. Vancouver, BC, Canada: American College of Gastroenterology.