Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome

Abstract

IntroductionCowden syndrome is a rare autosomal dominant genetic disease associated with PTEN mutation and is mainly shown as systemic multisystem lesions. The incidence of adenocarcinoma of the duodenum with Cowden syndrome in Asian males is rare. We hereby describe the diagnosis, treatment, and prognosis of a patient with duodenal carcinoma and Cowden syndrome.Case DescriptionA 40-year-old Chinese man was hospitalized because of gastrointestinal hemorrhage and anemia due to infiltrating adenocarcinoma of the descending part of the duodenum. He also had typical signs of Cowden syndrome, such as multiple polyps of the gastrointestinal tract, macrocephaly, papilloma of the tongue, soles hyperkeratosis, and melanosis spots. After the pancreaticoduodenectomy (classic Whipple), the lesions revealed the presence of hamartomatoid polyps, and some of them mutated into non-mucinous adenocarcinoma (80%) and mucinous adenocarcinoma (20%). Further investigation showed a lack of PTEN protein expression in the duodenal neoplasm, and genetic analysis showed the mutation of p.E242fs in PTEN. The patient was followed up for 1 year. There was no appearance of recurrence or distant metastasis.ConclusionIt is suggested that we should pay more attention to the differential diagnosis of duodenal carcinoma combined with gastrointestinal polyps. If multiple gastrointestinal polyps with gastrointestinal bleeding are encountered, Cowden syndrome should be considered, and timely diagnosis and treatment should be implemented.

PTEN hamartoma tumour syndrome: case report based on data from the Iranian hereditary colorectal cancer registry and literature review

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The Progress of Colorectal Polyposis Syndrome in Chinese Population

“…Postoperative pathology and genetic analysis suggested duodenal hamartomatoid polyps with canceration and germline variant of PTEN p.Glu242fs. 80 Autistic phenotypes can be found in 10 to 20% of PTEN germline variant individuals with macrocephaly. Wong et al screened 13 autistic patients who were clinically considered PHTS for PTEN gene variants and found 3 (23.08%) PTEN gene germline variants.…”