VCOM Research Day Program Book 2023

Medical Student Research Case Reports

02 A Case of Mutyh Associated Polyposis with Concurrent Skin Neoplasms

Samantha Studer; Aaron Burch, DO; McKenzie Tibbs, DO Corresponding author:

LewisGale Hospital Montgomery

MUTYH associated polyposis (MAP) is an inherited hereditary mutation of the MutY human homolog gene (recessive), in which individuals develop between ten to one hundred colonic polyps. Its prevalence is approximately 1-2% in Eastern European, Australia, and United States populations. This genetic mutation greatly increases the risk of colorectal cancer and cancers in other organs. Documented risks of extracolonic cancers including gastric, duodenal, endometrial, ovarian, liver, breast, and cutaneous cancers such as melanoma, squamous cell, basal cell and sebaceous carcinomas have been reported [2, 3,4]. This report covers a rare case of MUTYH associated polyposis (MAP) in an elderly female who presented for routine colonoscopy

and more than 20 polyps were discovered and described as tubular adenomas. On the six-month colonoscopy follow-up, the patient had 12 more tubular adenomas where two more polyps were found to have high grade dysplasia. She was sent for genetic testing (skin biopsy) and was diagnosed with the MUTYH mutation. The patient opted to have a left hemicolectomy for a more definitive approach of colorectal cancer prophylaxis. This case demonstrates the unique presentation of MAP in an elderly female that had significant skin cancer history as well as myelofibrosis with thrombocytosis. Since the MUTYH gene is involved in the base excision DNA repair pathway, we hypothesize that this patient’s genetic mutation not only made her susceptible to the

skin cancers, but also had a significant connection to her myeloproliferative neoplasm disease, although further research on this connection would need to be studied. Additionally, the patient’s history of multiple cutaneous squamous cell carcinomas highlights the importance of skin surveillance in this disease process and the need for continuous preventative screenings in MAP individuals using esophagogastroduodenoscopy, mammograms, pap smears, and possible ovarian ultrasounds.

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