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Occurrence of Gastric Cancer in Patients with Juvenile Polyposis Syndrome: A systematic review and meta-analysis

  • Achintya D. Singh
    Affiliations
    - Department of Internal Medicine, Cleveland Clinic, Cleveland, OH
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  • Akshita Gupta
    Affiliations
    - Department of Internal Medicine, Massachusetts General Hospital, Boston, MA
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  • Neal Mehta
    Affiliations
    - Department of Gastroenterology, Beth Israel Deaconess Medical Center, Boston, MA
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  • Brandie Heald
    Affiliations
    - Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH

    - Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH, US
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  • Carole Macaron
    Affiliations
    - Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH

    - Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH, US
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  • David Liska
    Affiliations
    - Department of Colorectal Surgery, Digestive disease and Surgery Institute, Cleveland Clinic, Cleveland, OH

    - Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH, US
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  • Amit Bhatt
    Affiliations
    - Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH

    - Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH, US
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  • Carol A. Burke
    Correspondence
    Corresponding Author: Carol A. Burke, MD, Department of Gastroenterology, Hepatology and Nutrition, Desk A-30, 9500 Euclid Avenue, Cleveland, Ohio 44195 Office: 216-444-6864, Fax: 216-444-6305
    Affiliations
    - Department of Gastroenterology, Hepatology and Nutrition, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH

    - Department of Colorectal Surgery, Digestive disease and Surgery Institute, Cleveland Clinic, Cleveland, OH

    - Sanford R. Weiss MD Center for Hereditary Colorectal Neoplasia, Digestive Disease and Surgery Institute, Cleveland Clinic, Cleveland, OH, US
    Search for articles by this author
Published:October 17, 2022DOI:https://doi.org/10.1016/j.gie.2022.10.026
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      Abstract:

      Background and Aims

      The true rate of gastric cancer (GC) in Juvenile Polyposis Syndrome (JPS) is unknown due to its rarity and ascertainment bias in published literature. To better assess this, we conducted a systematic review and meta-analysis.

      Methods

      Medline, Embase and Scopus databases were searched for keywords ‘Juvenile polyposis syndrome, juvenile polyps, stomach cancer, gastric cancer, SMAD4, BMPR1A, hamartomatous polyposis syndrome, hamartomas and hereditary cancers’ for studies reporting upper GI manifestations in JPS. The primary outcome was the reported occurrence of GC in JPS. Secondarily, we compared GC occurrence based on presence or absence of pathogenic germline variants (PGVs) and in untested patients.

      Results

      Eleven studies including 637 patients were included. The pooled occurrence of GC was 3.5% (95%CI:1.8, 5.2; I2:12.3%) at a median age of 42.5 (range: 15-57.6) years. The pooled occurrence of GC in patients with SMAD4 PGV was 10.1% (95%CI:3.2%, 16.8%, I2:54.7%). GC was only reported in only one BMPR1A PGV carrier, and was not reported in patients without an identifiable PGV.In patients with prior germline testing, the risk of GC was higher in SMAD4 PGV carriers (Odds Ratio:11.6, 95% CI:4.6, 29.4, I2=18.3%) compared to patients without SMAD4 PGV.In JPS patients with unknown status of germline testing, pooled occurrence of GC was 7.5% (95%CI: 0, 15.5%). There was an overall moderate risk of bias in the studies.

      Conclusion

      GC is highest in SMAD4-associated JPS and was not reported in patients without identifiable PGVs. The value of GC surveillance in BMPR1A PGV carriers and JPS patients without an identifiable PGV is questionable. Germline testing should be performed in all JPS patients to inform GC risk discussion and utility of surveillance.

      Key words

      Abbreviations:

      JPS (Juvenile Polyposis syndrome), PGV (pathogenic or likely pathogenic germline variant), GC (Gastric Cancer)
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