Forty-eight-year-old female MUTYH carrier presenting with five concurrent primary cancers

Cancer Rep (Hoboken). 2022 Feb;5(2):e1455. doi: 10.1002/cnr2.1455. Epub 2021 Jun 26.


Background: MUTYH-associated polyposis is a rare disorder resulting from mutations involved in DNA mismatch repair. This results in an increased susceptibility to colonic adenomatosis and other cancers. Studies have examined the resulting frequency of extracolonic manifestations; however, these typically occur alone, concurrently, or temporally separate from an already diagnosed colorectal cancer in individuals with a biallelic mutation.

Case: Reported here is a case of five distinct primary neoplasms presenting simultaneously in a patient monoallelic for an MYH mutation. These neoplasms included squamous cell carcinoma of the vulva, rectal adenocarcinoma, synchronous anal adenocarcinoma, papillary thyroid carcinoma, and ovarian serous psammocarcinoma. Throughout her course, she underwent multiple surgical procedures, neoadjuvant chemoradiation, with further adjuvant therapy, and treatment ongoing. Due to her unique presentation, she underwent genetic testing that demonstrated she was monoallelic for an MYH mutation.

Conclusion: The patient had a positive response to her treatment and surgical procedures with ongoing adjuvant therapy. She will continue to undergo further genetic testing, and testing for her children is being considered. This case demonstrates a unique presentation associated with a monoallelic MYH mutation that is not described in the current literature and warrants further investigation.

Keywords: colon cancer; genetics; gynecology; oncology.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / therapy
  • Carcinoma, Papillary / genetics
  • Carcinoma, Papillary / therapy
  • Carcinoma, Squamous Cell / genetics
  • Carcinoma, Squamous Cell / therapy
  • DNA Glycosylases / genetics*
  • DNA Mismatch Repair
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / therapy
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / therapy
  • Rectal Neoplasms / genetics
  • Rectal Neoplasms / therapy
  • Thyroid Neoplasms / genetics
  • Thyroid Neoplasms / therapy
  • Vulvar Neoplasms / genetics
  • Vulvar Neoplasms / therapy


  • DNA Glycosylases
  • mutY adenine glycosylase