P0359 - Undiagnosed Polyposis Syndrome Preceded by Thyroid Cancer in Young Female

Award: Presidential Poster Award

Victoria Diaz, MD, Christina Joya, DO, Megan Hubbard, DO, Vishvinder Sharma, MD
Valley Hospital Medical Center, Las Vegas, NV

Introduction: Papillary thyroid carcinoma (PTC) is the most common form of thyroid cancer and typically has a favorable prognosis with only 5% of patients presenting with distal metastatic disease at the time of diagnosis. While rare, PTC has been associated with polyposis syndromes and in some cases can be the herald sign of the syndrome, particularly in young women. PTC cases associated with familial syndromes may have a more aggressive course. Herein we present a case of a young female patient that presented with metastatic PTC, later found to have endoscopic findings suspicious for familial adenomatous polyposis (FAP), prompting discussion if the patient should have been screened for FAP at the time of PTC diagnosis.

Case Description/Methods: A 30-year-old female with metastatic papillary thyroid carcinoma status-post thyroidectomy 2 years prior, presented with complaints of hematemesis and hematochezia for several months. Patient reported her father died from colon cancer at age 40, but she had not yet had her screening colonoscopy. On EGD and colonoscopy, a duodenal polyp and innumerous polyps carpeting the entire colon were discovered. Biopsies were taken from the duodenal polyp, as well as from cecum, ascending, transverse, descending, and sigmoid colon. Pathology from all biopsies returned showing tubular adenomas. Gene testing and evaluation for prophylactic colectomy was recommended given suspicion of FAP.

Discussion: Though this patient ultimately did not undergo gene testing, she had two extracolonic manifestations associated with FAP, PTC and a duodenal adenoma, as well as characteristic extensive polyposis within the colon. PTC has a prevalence of 12% in patients with FAP, particularly, the cribriform-morular subtype. Cases of PTC have been reported in other genetic syndromes in which polyposis can be seen, such as Cowden’s disease, Gardner’s Syndrome, and Peutz-Jegher Syndrome, though with a lower prevalence. Current ACG guidelines recommend an annual thyroid ultrasound to screen for PTC in patients with adenomatous polyposis syndromes. However, as in this case, PTC may occur before a patient is aware of a potential underlying familial syndrome, begging the question if young female patients with PTC should also contrarily be screened for FAP.



Disclosures:


Victoria Diaz, MD, Christina Joya, DO, Megan Hubbard, DO, Vishvinder Sharma, MD. P0359 - Undiagnosed Polyposis Syndrome Preceded by Thyroid Cancer in Young Female, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.