Background and Aims
In familial adenomatous polyposis (FAP), neoplastic lesions outside the colon have
become increasingly important. The genotype–phenotype correlation has been established
for duodenal polyps, and regular screening is recommended. However, this correlation
remains unclear for small-intestinal lesions, except for reports on the relationship
between their occurrence and Spigelman stage. Here, we used small-bowel capsule endoscopy
(SBCE) to investigate the genotype–phenotype correlation of small-intestinal polyps
in FAP.
Methods
The genotype–phenotype correlation of small-intestinal polyps was investigated in
patients with FAP who underwent SBCE, Esophagogastroduodenoscopy (EGD), and adenomatous
polyposis coli (APC) gene analysis. Of 64 patients with FAP who underwent SBCE, 41 were included in the
final analysis, 4 did not undergo a complete small intestine examination, and 19 did
not undergo genetic analysis.
Results
The prevalence (median number) of small-intestinal polyps by Spigelman stage was 26%
(1.5), 0% (0), 44% (5), 60% (4), and 73% (25.5) for stages 0 to IV, respectively.
Significantly more small-intestinal polyps were found in Spigelman stage III and IV
groups than in the stage 0 group (P < .05). The APC variant was negative for 6 patients (15%), and the sites associated with more than
5 small-intestinal polyps were codons 278, 1062, 1114, 1281, 1307, 1314, and 1504.
Conclusions
In FAP patients, SBCE surveillance is potentially recommended for patients with pathogenic
variants in the APC gene at codons 278 and 1062 to 1504 or with Spigelman stage III or higher.
Graphical abstract
Graphical Abstract
Abbreviations:
APC (adenomatous polyposis coli), DBE (double-balloon endoscopy), EGD (esophagogastroduodenoscopy), FAP (familial adenomatous polyposis), PGV (pathogenic germline variant), SBCE (small-bowel capsule endoscopy), TCS (total colonoscopy)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: September 06, 2022
Accepted:
August 30,
2022
Received:
April 13,
2022
Footnotes
DISCLOSURE: All authors disclosed no financial relationships. Research support for this study was provided by Japan Agency for Medical Research and Development (AMED) (grant nos. JP21ck0106556h0002, to M. Yamada; and JP19ck0106268h0003, to T. Yoshida) and The National Cancer Center Research and Development Fund (25-A-1, 31-A-2, T. Yoshida).
DIVERSITY, EQUITY, AND INCLUSION: The author list of this paper includes contributors from the location where the research was conducted who participated in the data collection, design, analysis, and/or interpretation of the work.
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© 2023 by the American Society for Gastrointestinal Endoscopy
