Asset Details
Do you wish to reserve the book?
Forty‐eight‐year‐old female MUTYH carrier presenting with five concurrent primary cancers
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Forty‐eight‐year‐old female MUTYH carrier presenting with five concurrent primary cancers
Do you wish to request the book?
Forty‐eight‐year‐old female MUTYH carrier presenting with five concurrent primary cancers
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Forty‐eight‐year‐old female MUTYH carrier presenting with five concurrent primary cancers
2022
Overview
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.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
/ Biopsy
/ Carcinoma, Papillary - genetics
/ Carcinoma, Papillary - therapy
/ Carcinoma, Squamous Cell - genetics
/ Carcinoma, Squamous Cell - therapy
/ Female
/ Genetic Predisposition to Disease
/ genetics
/ Hernias
/ Humans
/ Mutation
/ Neoplasms, Multiple Primary - genetics
/ Neoplasms, Multiple Primary - therapy
/ oncology
/ Ovarian Neoplasms - genetics
/ Patients
/ Pelvis
/ Polyps
