C0147 - Cowden Syndrome: An Enigmatic Disease With Many Faces

Jason J. John, MD¹, Jason M. Colizzo, MD^2
1University of South Florida Health, Tampa, FL; ²James A. Haley VA Hospital, Tampa, FL

Introduction: The phosphatase and tensin homolog PTEN hamartoma tumor syndrome is a hereditary cancer syndrome associated with mutations of the PTEN gene on chromosome 10. Cowden syndrome (CS) is the most common phenotype. We present the case of 34-year-old male found to have extensive esophageal glycogenic acanthosis and numerous colon polyps subsequently found to have CS.

Case Description/Methods: A 34-year-old Hispanic male presented to clinic for evaluation of iron deficiency anemia. His medical history was notable for a non-toxic multinodular goiter and a cerebellar lesion on imaging. He was macrocephalic on physical examination. Esophagogastroduodenoscopy (EGD) revealed extensive glycogenic acanthosis throughout the esophagus (Figure 1). Duodenal and gastric biopsies were normal. Colonoscopy revealed 37 diminutive sessile polyps. Histology showed these to be hyperplastic polyps with lymphoid follicles. Considering these findings, a genetics consult was placed. The patient was found to be positive for genetic change in the PTEN gene confirming our suspicion of CS. His cerebellar lesion was later confirmed to be a gangliocytoma; a CNS lesion strongly associated with CS. A small bowel video capsule endoscopy was later completed and found to be unremarkable. Further work-up for anemia is underway.

Discussion: CS is a rare autosomal dominant disorder characterized by multiple hamartomas and hyperplastic lesions in the mucous membrane, skin, GI tract, thyroid, and brain. It has an estimated incidence of 1 in 250,000 people. Diffuse glycogenic acanthosis and gastrointestinal polyposis are characteristic features of CS; seen in close to 80% and 65-93%, respectively. It was previously believed that CS-associated polyposis did not confer an increased risk of colorectal cancer (CRC); however, recent literature reports the risk of malignancy can reach 10-18%. Our patient had many features suggestive of CS including macrocephaly, cerebellar gangliocytoma, extensive glycogenic acanthosis, and numerous colon polyps. He will continue to undergo surveillance for CRC as well as non-GI malignancies including thyroid, skin, and renal. While a mutation of the PTEN gene was found, only 40-60% of patients have an identifiable mutation on genetic testing; as such, recognition of physical manifestations and endoscopic findings is critical to diagnosis. Esophageal glycogenic acanthosis is often a benign finding on EGD; however, its diffuse presence in conjunction with colonic polyposis should raise high suspicion for CS.



Disclosures:


Jason J. John, MD¹, Jason M. Colizzo, MD². C0147 - Cowden Syndrome: An Enigmatic Disease With Many Faces, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.