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Gastric neoplasms in patients with familial adenomatous polyposis: endoscopic and clinicopathologic features

      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

      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)
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      Linked Article

      • Finding the needle in a haystack: approach to detection of high-risk gastric lesions in familial adenomatous polyposis
        Gastrointestinal EndoscopyVol. 94Issue 6
        • Preview
          Familial 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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