Annali italiani di chirurgia · 2026
Multistage Management of Splenic Flexure Adenocarcinoma in Suspected MUTYH-Associated Polyposis: A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Costanzi Andrea, Tapia Gomez Humberto, Schievano Giulia, Chiarelli Marco, Olmetti Simone, Scaini Alberto, Bernasconi David, Bonfanti Giulia, Canfora Ilaria, Bicelli Noemi, Carissimi Francesca, Fazzini Nicola, Bonfanti Giacomo, Sassun Richard
Аннотация
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.
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.