MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

doi:10.4251/wjgo.v15.i11.1891

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World Journal of Gastrointestinal Oncology

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastrointest Oncol. Nov 15, 2023; 15(11): 1891-1899
Published online Nov 15, 2023. doi: 10.4251/wjgo.v15.i11.1891

MUTYH-associated polyposis: Is it time to change upper gastrointestinal surveillance? A single-center case series and a literature overview

Lupe Sanchez-Mete, Lorenzo Mosciatti, Marco Casadio, Luigi Vittori, Aline Martayan, Vittoria Stigliano

Lupe Sanchez-Mete, Lorenzo Mosciatti, Marco Casadio, Aline Martayan, Vittoria Stigliano, Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, IRCCS, Rome 00144, Italy

Luigi Vittori, Department of Radiological, Oncological and Pathological Sciences, Regina Elena National Cancer Institute, IRCCS, Rome 00144, Italy

Author contributions: Sanchez-Mete L and Mosciatti L contributed to the literature research and wrote the first draft; all authors critically contributed to the analysis of evidence and provided major intellectual input to the paper, and commented on previous versions of the manuscript; and all authors read and approved the final manuscript.

Institutional review board statement: This retrospective review of patient data did not require ethical approval in accordance with local/national guidelines.

Informed consent statement: All the participants signed an informed consent form.

Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.

Data sharing statement: The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

Corresponding author: Lupe Sanchez-Mete, MD, Doctor, Gastroenterology and Digestive Endoscopy, Regina Elena National Cancer Institute, IRCCS, via Elio Chianesi nr 53, Rome 00144, Italy. lupe.sanchez@ifo.it

Received: February 13, 2023
Peer-review started: February 13, 2023
First decision: April 25, 2023
Revised: May 28, 2023
Accepted: June 13, 2023
Article in press: June 13, 2023
Published online: November 15, 2023
Processing time: 275 Days and 4.2 Hours

ARTICLE HIGHLIGHTS

Research background

Patients with MUTYH-associated polyposis (MAP) present an increased risk of extra-intestinal manifestations. Among them, a frequent extra-colonic manifestation is duodenal polyposis, which severity is traditionally classified with the Spigelman five-stage system (SS). The occurrence of SS IV duodenal polyposis is reported as the main risk factor for duodenal cancer. However, case reports of duodenal cancers in MAP suggest that they may develop in the absence of advanced benign SS disease, even without coexisting adenomas, and often involve the distal portion of the duodenum, out of the reach of conventional esophagogastroduodenoscopy.

Research motivation

Further studies are needed to define appropriate upper gastrointestinal surveillance programs in MAP patients.

Research objectives

To increase the knowledge regarding MAP and its associated duodenal polyposis, in light of recent literature evidence, we describe a series of MAP patients followed up at the Regina Elena National Cancer Institute of Rome, Italy. In addition, a literature revision on previously reported small bowel (SB) cancers in MAP was carried out.

Research methods

Clinical records of thirty-eight MAP patients followed up at the Regina Elena National Cancer Institute between 2003 and 2021 were considered. A literature revision by a PubMed search was carried out on previously reported SB cancers in MAP, without any limitations in terms of publication date and language.

Research results

In our case series, we identified two (6%) SB adenocarcinomas with no previous history of duodenal polyposis.

Research conclusions

Our observations suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer should be adjusted to take in consideration the presence of SS IV disease, rather than focusing only on this feature.

Research perspectives

A revision of upper gastrointestinal/SB surveillance guidelines may be required to better prevent SB cancer in MAP.