48-Year-Old Female MUTYH Carrier Presenting with Five Concurrent Primary Cancers.

Abstract

Background: MUTYH-associated polyposis (MAP) is a rare, and only recently described disorder resulting from mutations in genes encoding enzymes involved in DNA mismatch repair. These mutations result in an increased susceptibility to colonic adenomatosis as well as a variety of cancers. In current literature, studies have examined the frequencies of extracolonic manifestations of this disorder. However, these manifestations typically occur alone concurrently, or temporally separate from an already diagnosed colorectal cancer in individuals with a bi-allelic mutation. Case Presentation: 48-year-old female with five distinct primary neoplasms presenting simultaneously in a patient mono-allelic for an MYH mutation, and only a single gastrointestinal polyp. Family history included colon, rectal, and lung cancer. Her past medical history included obesity and type 2 diabetes mellitus and a large ventral hernia was noted on examination. She initially presented with a several-month history of an enlarging pruritic labial mass found to represent a high grade squamous intraepithelial neoplasm for which a radical right partial vulvectomy was performed. Final pathology demonstrated a stage IB squamous cell carcinoma. At follow-up, the patient complained of fecal incontinence. To evaluate this, upper and lower endoscopies were performed which demonstrated a large rectal mass representing adenocarcinoma characterized by a low probability of microsatellite instability and an anal mass representing a second adenocarcinoma. An asymptomatic thyroid mass was discovered with pathology demonstrating papillary thyroid carcinoma. During her en bloc surgical resections of previously mentioned malignancies, a left ovarian serous implant of psammocarcinoma was identified. Scattered foci of low-grade serous carcinoma (psammomatous carcinoma) were found within the ventral hernia sac tissue.Conclusions: The disparate and aggressive presentation of this case serves two purposes; to highlight the importance of a thorough workup in patients with oncologic presentations suspicious for genetic aberration, and to highlight how variable expressivity can lead to unpredictable presentations necessitating a broad differential diagnosis.