Well-concealed advanced duodenal carcinoma with Muir-Torre syndrome: a case report and review of literature

Surg Case Rep. 2023 Feb 13;9(1):24. doi: 10.1186/s40792-023-01603-0.


Background: Muir-Torre syndrome is an autosomal-dominant mutation in mismatch repair genes that gives rise to sebaceous tumors and visceral malignancies over time. Because colorectal and genitourinary cancers are common in Muir-Torre syndrome, duodenal carcinoma diagnoses are often delayed.

Case presentation: A 58-year-old woman presented with severe emaciation, anorexia, and upper abdominal pain. She had a history of rectal carcinoma, ascending colon carcinoma, and a right shoulder sebaceous carcinoma. Upper gastrointestinal endoscopy and computed tomography examinations suggested duodenal obstruction due to superior mesenteric artery syndrome, leading to long-term observation. Seven months later, she was finally diagnosed with duodenal carcinoma of the third portion. As the papilla of Vater was preservable due to tumor location, she received a partial duodenectomy in lieu of a pancreatoduodenectomy. Pathologically, the tumor was a well-differentiated adenocarcinoma with a classification of T3N0M0 Stage IIA (UICC, 8th edition). The postoperative course was uneventful and her appetite returned. A mutation in mismatch repair gene MSH2 confirmed the diagnosis of Muir-Torre syndrome genetically. Three years later, her nutritional status has fully recovered and she is free from both recurrence and metastasis.

Conclusion: In patients with comorbid skin sebaceous tumors and gastrointestinal malignancies, genetic screening is strongly recommended. Patients with Muir-Torre syndrome require long-term follow-up, and function-preserving treatment is desirable.

Keywords: Duodenum carcinoma; Genetic screening testing; Muir–Torre syndrome; Pancreas-sparing duodenectomy; Partial duodenectomy.