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Sunday Poster Session

Category: Colon

P0327 - Colonic Intussusception as the Initial Presentation of Colon Cancer in a Patient with Osteogenesis Imperfecta: A Rare Case Report

Sunday, October 26, 2025
3:30 PM - 7:00 PM MT
Location: Exhibit Hall
Ornela Thartori, MD1, Mohamed Farag, MD2, Sameer Kandhi, MD3, Franklin Sosa, MD4, Priscilla Hallal, MD4, Harish Patel, MD4, Jasbir Makker, MD4
1BronxCare Health System, Brooklyn, NY; 2Bronxcare, Bronx, NY; 3Bronx Care, Bronx, NY; 4BronxCare Health System, Bronx, NY

Introduction: Intussusception in adults is rare, accounting for approximately 5% of all intussusception cases and less than 1% of all bowel obstructions. When it occurs in the colon, it is often associated with an underlying malignancy and typically presents in the 5th or 6th decade of life. Unlike pediatric intussusception, adult cases require a high index of suspicion and frequently necessitate surgical intervention. While connective tissue disorders such as osteogenesis imperfecta (OI) are linked to gastrointestinal motility issues like constipation, there is no established correlation between OI, malignancy, or intussusception.

Case Description/

Methods: A 40-year-old male with a complex medical history including end-stage renal disease (on hemodialysis), hypertension, schizoaffective disorder, CHF, seizures, asthma, osteogenesis imperfecta, and prior CVA without deficits, presented with right upper quadrant and epigastric pain accompanied by hematochezia. He was hemodynamically stable, with mild tenderness in the right upper quadrant and no peritoneal signs. Initial CT imaging revealed colonic wall thickening and a right-sided colonic intussusception, raising concern for an underlying mass (Figure-1). A confirmatory CT with oral contrast was consistent with these findings. Surgical consultation was obtained to determine whether colonoscopy or direct surgery was appropriate. Given his stable presentation, colonoscopy was performed and revealed a likely malignant mass at the hepatic flexure with transverse colon ulceration. Biopsies were obtained and surgical resection is planned (Figure-2).

Discussion:


Adult colonic intussusception is most commonly caused by an underlying neoplasm, with adenocarcinoma being the predominant etiology. While emergent surgery is indicated in unstable patients, stable individuals without signs of peritonitis may benefit from preoperative endoscopic evaluation to localize the lesion and guide surgical planning. This case also raises the rare intersection of colonic malignancy and osteogenesis imperfecta. While OI is classically linked to mutations in COL1A1 and COL1A2 genes—encoding type I collagen—these same genes have been implicated in the tumor microenvironment and progression of colorectal cancer. The involvement of COL1A1 in both extracellular matrix structure and tumor metastasis suggests a potential molecular link that merits further research. To our knowledge, this is one of the first reported cases of colonic intussusception due to colon cancer in a patient with OI. 




Figure: Figure.1: CT scan showing right colonic intussusception with wall thickening and a suspected mass at the hepatic flexure.


Figure: Figure.2: Colonoscopy showing an ulcerated, likely malignant mass at the hepatic flexure; biopsies were obtained.

Disclosures:
Ornela Thartori indicated no relevant financial relationships.
Mohamed Farag indicated no relevant financial relationships.
Sameer Kandhi indicated no relevant financial relationships.
Franklin Sosa indicated no relevant financial relationships.
Priscilla Hallal indicated no relevant financial relationships.
Harish Patel indicated no relevant financial relationships.
Jasbir Makker indicated no relevant financial relationships.

Ornela Thartori, MD1, Mohamed Farag, MD2, Sameer Kandhi, MD3, Franklin Sosa, MD4, Priscilla Hallal, MD4, Harish Patel, MD4, Jasbir Makker, MD4. P0327 - Colonic Intussusception as the Initial Presentation of Colon Cancer in a Patient with Osteogenesis Imperfecta: A Rare Case Report, ACG 2025 Annual Scientific Meeting Abstracts. Phoenix, AZ: American College of Gastroenterology.