Background and Aims
Gastric neoplasms in patients with familial adenomatous polyposis (FAP) occur at a
high rate and can cause death. The endoscopic findings of gastric neoplasms in these
patients are characteristic but not well recognized. To identify the relevant characteristics
to enable early detection, we retrospectively investigated endoscopic findings of
gastric neoplasms in patients with FAP and then compared the clinical, histopathologic,
and genetic features among subgroups.
Methods
Of 234 patients with 171 pedigrees at 2 institutes, 56 cases (24%, 133 gastric neoplasms)
with 44 pedigrees were examined. Immunostaining was performed for histopathologic
evaluation by 1 blinded pathologist. According to the endoscopic findings, gastric
neoplasms were divided into 4 types based on location (L: antrum and pylorus, UM:
the rest of the stomach) and color (W: white, T: translucent, R: reddish) and their
clinicopathologic features examined.
Results
Of the cases, 93% could be classified into a single type. Among histologic phenotypes,
high-grade dysplasia was present in 26% (type L), 41% (type UM-W), 0% (type UM-T),
and 22% (type UM-R). The immunologic phenotype comprised the gastric type in 69% (93%
in Type UM) and the intestinal phenotype, including the mixed type, in 31% (61% in
type L). Moreover, 96% of patients had concurrent duodenal neoplasms. Adenomatous
polyposis coli gene status was identified in 93% of patients; the pathogenic variant
was detected in 98% but did not influence any endoscopic features.
Conclusions
Gastric neoplasms in patients with FAP were stratified into 4 types according to their
endoscopic findings. The endoscopic phenotype was related to the histopathologic phenotype
but not to germline variants.
Graphical abstract
Graphical Abstract
Abbreviations:
APC (adenomatous polyposis coli), FAP (familial adenomatous polyposis), FGP (fundic gland polyp), H pylori (Helicobacter pylori), HGD (high-grade dysplasia), LGD (low-grade dysplasia), WLI (white-light imaging)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: June 16, 2021
Accepted:
June 5,
2021
Received:
January 16,
2021
Footnotes
DISCLOSURE: The following author disclosed financial relationships: Y. Takeuchi: Speaker for Olympus, Boston Scientific Japan, Daiichi-Sankyo, Miyarisan Pharmaceutical, Asuka Pharmaceutical, AstraZeneca, EA Pharma, Zeria Pharmaceutical, Fujifilm, Kaneka Medix, Kyorin Pharmaceutical, and Japan Gastroenterological Endoscopy Society. All other authors disclosed no financial relationships. Research support for this study was provided by the Japan Agency for Medical Research and Development (AMED; 19ck0106271h0003).
If you would like to chat with an author of this article, you may contact Dr Takeuchi at [email protected]
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- Finding the needle in a haystack: approach to detection of high-risk gastric lesions in familial adenomatous polyposisGastrointestinal EndoscopyVol. 94Issue 6
- PreviewFamilial adenomatous polyposis (FAP) is known as a hereditary colorectal cancer syndrome. Although the description is historically precise, given the near-universal risk of colorectal cancer unless colectomy is performed, perhaps it should be rebranded as a GI neoplasia syndrome. Risk-reducing surgical removal of the colorectum, facilitated by the presymptomatic identification of affected relatives, followed by postoperative lower GI surveillance of the remaining rectum or ileal pouch, has resulted in a substantial reduction in the incidence of and mortality from colorectal cancer in FAP.
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