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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1948-5204

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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

Abstract

BACKGROUND

The presence of Spigelman stage (SS) IV duodenal polyposis is considered the most significant risk factor for duodenal cancer in patients with MUTYH-associated polyposis (MAP). However, advanced SS disease is rarely reported in MAP patients, and no clear recommendations on small bowel (SB) surveillance have been proposed in this patient setting.

AIM

To research more because that case reports of duodenal cancers in MAP suggest that they may develop in the absence of advanced benign SS disease and often involve the distal portion of the duodenum.

METHODS

We describe a series of MAP patients followed up at the Regina Elena National Cancer Institute of Rome (Italy). A literature overview on previously reported SB cancers in MAP is also provided.

RESULTS

We identified two (6%) SB adenocarcinomas with no previous history of duodenal polyposis. Our observations, supported by literature evidence, suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer may need to be adjusted to take this into account rather than focusing solely on the presence or absence of SS IV disease.

CONCLUSION

Our study emphasizes the need for further studies to define appropriate upper gastrointestinal surveillance programs in MAP patients.

Keywords: MUTYH-associated polyposis; Duodenal adenomatosis; Duodenal cancer; Endoscopic management; Case report

Core Tip: Case reports of duodenal cancers in MUTYH-associated polyposis suggest that they may develop in the absence of advanced Spigelman stage (SS) benign disease and often involve the distal portion of the duodenum. In our case series, we identified two (6%) small-bowel adenocarcinomas with no previous history of duodenal polyposis. Our observations, supported by literature evidence, suggest that the formula for staging duodenal polyposis and predicting risk factors for distal duodenum and jejunal cancer should be adjusted to take into consideration the presence of SS IV disease, rather than focusing only on this feature.