Genetic alteration of colorectal adenoma‐carcinoma sequence among gastric adenocarcinoma and dysplastic lesions in a patient with attenuated familial adenomatous polyposis

Tanabe, Hiroki; Moriichi, Kentaro; Takahashi, Keitaro; Ono, Yoshio; Kobayashi, Yu; Murakami, Yuki; Iwama, Tetsuo; Kunogi, Takehito; Sasaki, Takahiro; Ando, Koji; Ueno, Nobuhiro; Takei, Hiroyuki; Okumura, Toshikatsu

doi:10.1002/mgg3.1348

Cited by 6 publications

(3 citation statements)

References 31 publications

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“…Some reports have suggested the involvement of the colonic adenoma-carcinoma sequence in FAP-associated gastric carcinogenesis. [ 13 , 31 ] In the present study, among 12 gastric adenomas associated with fundic gland polyposis, 4 (33%) increased in size during the observation period. Therefore, it is important to select an appropriate treatment strategy that considers the possibility of carcinogenesis.…”

Section: Discussionsupporting

confidence: 51%

“…The gastric cancers in this study showed mixed or intestinal phenotypes, with no gastric-type cancers. Previous case reports have described gastric adenocarcinomas arising from fundic gland polyposis [11,28–31] independent of H pylori infection. It is unclear whether gastric adenomas in patients with FAP confer an increased risk of carcinogenesis through the adenoma-carcinoma sequence.…”

Section: Discussionmentioning

confidence: 99%

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Endoscopic findings of gastric neoplasms in familial adenomatous polyposis are associated with the phenotypic variations and grades of dysplasia

et al. 2022

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Patients with familial adenomatous polyposis (FAP) are at increased risk of developing gastric neoplasms. However, endoscopic findings have not been sufficiently investigated. We investigated the phenotypic expression of gastric adenoma (low-grade dysplasia) and gastric cancer (high-grade dysplasia or carcinoma) in patients with FAP and clarified their relationships to endoscopic findings. Of 29 patients with FAP who underwent esophagogastroduodenoscopy between 2005 and 2020, 11 (38%) had histologically confirmed gastric neoplasms, including 23 lesions of gastric adenoma and 9 lesions of gastric cancer. The gastric neoplasms were classified into 3 phenotypes (gastric, mixed, or intestinal type) according to the immunostaining results and evaluated for location (U or M region: upper or middle third of the stomach or L region: lower third of the stomach), color (same as the background mucosa, whitish, or reddish), macroscopic type (elevated, flat, or depressed), background mucosal atrophy (present or absent), fundic gland polyps in the surrounding mucosa (present or absent), and morphologic changes in tumor size. Elevated whitish gastric adenomas were further subdivided by macroscopic type (flat elevated, protruded, or elevated with a central depression) and color (milky- or pinkish-white). The gastric adenomas included gastric (11/23, 48%), mixed (4/23, 17%), and intestinal (8/23, 35%) phenotypes. In contrast, no lesions of gastric cancers showed a gastric phenotype (0/9, 0%), while 5 (56%) and 4 (44%) lesions were intestinal and mixed phenotypes, respectively. Gastric cancers were significantly more likely than gastric adenomas to present as reddish depressed lesions with gastric atrophy. All gastric-type adenomas occurred in non-atrophic mucosa, in mucosa with fundic gland polyps in the periphery, in the U or M region, and as flat elevated or protruded lesions with a milky-white color. Half of the lesions increased in size. Meanwhile, the typical endoscopic features of intestinal-type adenomas included occurrence in the L region and elevated pinkish-white lesions with central depression. None of the intestinal-type adenomas increased in size during the observation period. We believe that these endoscopic features will be useful for the prompt diagnosis and appropriate management of gastric neoplasms in patients with FAP.

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Section: Discussionsupporting

confidence: 51%

Section: Discussionmentioning

confidence: 99%

Endoscopic findings of gastric neoplasms in familial adenomatous polyposis are associated with the phenotypic variations and grades of dysplasia

et al. 2022

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“…We analyzed the genetic alterations of the lesions in a previous report[ 13 ]. In brief, genomic DNA was isolated from formalin-fixed paraffin embedded (FFPE) specimens using a GeneRead DNA FFPE kit (Qiagen, Hilden, Germany).…”

Section: Case Presentationmentioning

confidence: 99%

Local recurrence after successful endoscopic submucosal dissection for rectal mucinous mucosal adenocarcinoma: A case report

Murakami¹,

Tanabe²,

Ono³

et al. 2023

World J Gastrointest Oncol

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BACKGROUND Mucinous adenocarcinoma of the colorectum is a rare histological subtype characterized by an abundant mucinous component. Mucinous tumors are frequently diagnosed at an advanced stage, which indicates an aggressive subtype. However, few case reports have been published, and little information is available concerning genetic alterations in mucinous adenocarcinoma. CASE SUMMARY A 76-year-old man underwent en bloc endoscopic submucosal dissection (ESD) for the management of a type 0-Is+IIa lesion. Histological examination revealed an intramucosal mucinous adenocarcinoma with signet-ring cell carcinoma and well-to-moderately differentiated tubular adenocarcinoma. Three years after the ESD, local recurrence was detected by an endoscopic examination, revealing a new 0-Is+IIa lesion with a phenotype similar to the previously resected lesion. Re-ESD was chosen for the management of the recurrent tumor, and the histological examination showed positive tumor infiltration at the vertical margin. Additional surgical resection was performed for the curative treatment. Genetic analysis showed pathogenic alterations in RNF43 and TP53 in the adenoma and an additional SMAD4 alteration in the carcinoma. CONCLUSION This mucinous mucosal adenocarcinoma case was suggested to have an aggressive phenotype and a careful and close follow-up are required.

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Two Cases, Too Little, Too Late: Surveillance for Gastric Cancer in Patients with FAP

Varanese,

Lattina,

Frattaroli

et al. 2023

Dig Dis Sci

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Genetic alteration of colorectal adenoma‐carcinoma sequence among gastric adenocarcinoma and dysplastic lesions in a patient with attenuated familial adenomatous polyposis

Cited by 6 publications

References 31 publications

Endoscopic findings of gastric neoplasms in familial adenomatous polyposis are associated with the phenotypic variations and grades of dysplasia

Endoscopic findings of gastric neoplasms in familial adenomatous polyposis are associated with the phenotypic variations and grades of dysplasia

Local recurrence after successful endoscopic submucosal dissection for rectal mucinous mucosal adenocarcinoma: A case report

Two Cases, Too Little, Too Late: Surveillance for Gastric Cancer in Patients with FAP

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