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[Results of Endoscopic Screening and Therapy of the Duodenum in MUTYH-associated Polyposis]. | LitMetric

AI Article Synopsis

  • - MAP is a rare genetic condition that leads to multiple colorectal polyps and increases the risk of colorectal cancer, along with other gastrointestinal tumors like duodenal carcinomas, caused by specific mutations in the gene.
  • - The study examined 15 patients with these mutations over a median period of nearly 10 years, performing a total of 72 endoscopic procedures (EGDs), primarily to monitor gastrointestinal health.
  • - It was found that many patients developed low-grade duodenal adenomas, but there were no serious complications like high-grade lesions or cancers, emphasizing the importance of specialized care for managing this condition.

Article Abstract

-associated polyposis (MAP) is a very rare autosomal recessive polyposis syndrome. It is caused by a homozygous or compound heterozygous germline mutation in the gene. MAP is characterised by numerous colorectal adenomas; furthermore there is an increased risk for colorectal cancer (CRC). However, the phenotype can be highly variable; for example, affected individuals also have an increased risk of polyps of the upper gastrointestinal tract and development of duodenal carcinomas.This study included 15 patients with evidence of a pathogenic variant, who were screened at the National Center for Hereditary Tumor Syndromes. Oesophagogastroduodenoscopy (EGD) results were prospectively recorded in a database from 2012 to 2023.At least one EGD (median 4, range 1-15) was performed in 15 patients, seven of whom carried a homozygous and 8 a compound heterozygous pathogenic variant. The median surveillance period was 115 months (range, 3-215 months). The median age at baseline was 44 (range 17-65) years. A total of 72 EGDs were performed (median 4; range 1-15). Five patients had duodenal adenomas; histology showed tubular adenomas with low grade intraepithelial dysplasia (LGIEN) in all of these cases. The total number of duodenal adenomas detected was 48, and the median number was 3 (range, 1-37). Neither high grade intraepithelial neoplasia (HGIEN) nor duodenal cancer was detected during the surveillance period.Patients with MUTYH-associated polyposis should be managed in a multidisciplinary centre for hereditary tumour disease. Our cohort showed more patients with duodenal adenomas than in previously published data. However, no progression to HGIEN or duodenal carcinomas was observed as a result of the endoscopic therapy performed.

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Source
http://dx.doi.org/10.1055/a-2194-0901DOI Listing

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