P0199 - An Unusual Case of Lynch Syndrome Presenting as Intestinal Intussusception in a Young Adult

Imran Khokhar, MD, Eldia Delia, MD, Vishal Chandel, MD, Dhruvan Patel, MD, Mathew Mathew, MD
Suburban Community Hospital, Norristown, PA

Introduction: Adult intestinal intussusception is a rare cause of abdominal pain which often has organic pathology associated to it. We describe a case of ileocolic intussusception revealing a poorly differentiated adenocarcinoma in a young woman successfully managed by surgical intervention.

Case Description/Methods: A 32-year-old woman with no positive family history of colon adenocarcinoma presented to our emergency department with a 3 month history of intermittent abdominal pain accompanied by nausea and vomiting, with current episode of generalized abdominal pain starting 4 days prior. Physical examination showed no palpable masses in abdomen and no signs of peritonitis. CT scan showed a target-shaped appearance in the cecum and ascending colon, highly suggestive for an ileocolic intussusception. On explorative laparotomy, we found a 10cm ileocolic intussusception with lymphadenopathies in the region of intussusception. Right hemicolectomy was performed with “en-bloc resection” and primary extracorporeal anastomosis was performed using manual sutures. The histological analysis identified a poorly differentiated tubular adenocarcinoma invading muscularis propria (pT3) without permeation of the lymphatic or venous capillaries. No lymphatic metastasis of 23 nodes removed was seen. Postoperative course was uneventful and patient was discharged home five days after surgery.
Postoperative chest, abdomen, and pelvis CT scan were normal. Therefore, tumor is classified as stage II A (pT3N0cM0). There was loss of MLH1, MLH2 and MSH6 protein expression on immunohistochemistry findings reflecting a microsatellite instability phenotype, CDX-2 positivity consistent with colorectal adenocarcinoma and Lynch syndrome was diagnosed based on high frequency molecular satellite instability (MSI-H) on genetic testing. Patient was followed up with heme-oncology who recommended only further genetic testing without adjuvant chemotherapy.

Discussion: Ileocolic intussusception is not a common presentation of cancer in young adults. Literature review showed six reports of intussusception in young adults due to tumor and genetic association. Oncologic and Genetic consultation should be required in a malignant lesion in young patients to rule out Lynch syndrome and if diagnosed family members should also be adequately screened. Hence sporadic Lynch syndrome should be considered if no family history exists. Surgical management is imperative in the diagnosis and treatment of this pathology.


Figure: Figure 1 shows ileocolic intussusception.


Disclosures:
Imran Khokhar indicated no relevant financial relationships.
Eldia Delia indicated no relevant financial relationships.
Vishal Chandel indicated no relevant financial relationships.
Dhruvan Patel indicated no relevant financial relationships.
Mathew Mathew indicated no relevant financial relationships.


Imran Khokhar, MD, Eldia Delia, MD, Vishal Chandel, MD, Dhruvan Patel, MD, Mathew Mathew, MD. P0199 - An Unusual Case of Lynch Syndrome Presenting as Intestinal Intussusception in a Young Adult, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.