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Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report
Andrea Costanzi1,2, Humberto Tapia Gomez1, Giulia Schievano1
1General Surgery Residency Program, University of Milan, 20122 Milano, Italy.
Aim:
Colorectal adenocarcinoma in young adults should prompt evaluation for hereditary syndromes such as familial adenomatous polyposis (FAP), attenuated FAP, MUTYH-associated polyposis (MAP) and other inherited cancer predisposition syndromes. The purpose of this case report is to highlight management options of incidental MAP diagnosis.
Case Presentation:
We report the case of a 41-year-old man presenting to the emergency department with intestinal obstruction due to adenocarcinoma of the splenic flexure, colonic polyposis with rectal sparing, and a significant family history of cancer.
Results:
After successful endoscopic stenting, a multidisciplinary approach including surgical resection, adjuvant treatment and genetic counseling was carried out.
Conclusions:
A minimally invasive subtotal colectomy was proposed to a 41-year-old man whose genetic testing for polyposis and hereditary cancer syndromes revealed a rare homozygotic variation of uncertain significance (VUS)+ in the MUTYH gene. Absence of rectal involvement made rectal sparing possible in association with close endoscopic follow-up.
