Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging

Sep 24, 2026

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Preoperative identification of gastric juvenile polyposis (GJP) associated with cancer remains challenging despite frequent coexistence with gastric malignancy. A 70-year-old woman presented with epigastralgia and anemia; conventional endoscopy showed numerous gastric polyps without malignant findings, but magnifying endoscopy with narrow-band imaging (M-NBI) detected cancerous features. Target biopsy confirmed adenocarcinoma, and endoscopic resection verified juvenile polyposis with intramucosal adenocarcinoma. Genetic testing revealed a germline pathogenic SMAD4 variant, supporting the usefulness of M-NBI-guided targeted biopsy for preoperative diagnosis.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages7

Reading Time18 min

AccessFree to download

Abstract

Introduction

Case Report

Presentation and history

Endoscopic findings

Biopsy, resection, and genetic analysis

Figures and pathological observations

doi: 10.2169/internalmedicine.1612-23 Intern Med 62: 3333-3339, 2023 [http://internmed.jp](http://internmed.jp) 【CASE REPORT】 Gastric Juvenile Polyposis with Intramucosal Cancer Diagnosed by Magnifying Endoscopy with Narrow-band Imaging Hisanori Utsunomiya 1, Yoichi Akazawa 1, Hiroya Ueyama 1, Tomoyo Iwano 1, Momoko Yamamoto 1, Ryota Uchida 1, Shotaro Oki 1, Nobuyuki Suzuki 1, Daiki Abe 1, Atsushi Ikeda 1, Tsutomu Takeda 1, Kumiko Ueda 1, Mariko Hojo 1, Yukinori Yube 2, Sanae Kaji 2, Soh Okano 3, Sho Tsuyama 4,5, Hidetaka Eguchi 6, Yasushi Okazaki 6, Masami Arai 7, Tetsu Fukunaga 2, Takashi Yao 3 and Akihito Nagahara 1 | Abstract:
Although gastric juvenile polyposis (GJP) often coexists with gastric cancer, a preoperative accurate diagnosis is still difficult to obtain. A 70-year-old woman was referred for epigastralgia and anemia. Esophagogastroduodenoscopy with a conventional endoscope showed numerous gastric polyps with no cancerous findings. Magnifying endoscopy with narrow-band imaging (M-NBI) showed cancerous findings, anda target biopsy revealed adenocarcinoma. Histopathological findings after endoscopic resection confirmed a diagnosis of juvenile polyposis with intramucosal adenocarcinoma. Genetic analyses revealed a germline pathogenic variant of SMAD4 . A target biopsy using M-NBI and endoscopic resection proved useful for confirming the preoperative diagnosis of coexisting cancerous lesions in GJP.
Key words: juvenile polyposis, SMAD4, magnifying endoscopy, narrow-band imaging
(Intern Med 62: 3333-3339, 2023)
(DOI: 10.2169/internalmedicine.1612-23) | | | --- | --- | |
Introduction | ered (5, 6) . However, making the histopathological definite diagnosis of GJP from biopsy specimens is very difficult. Thus, how to make a preoperative diagnosis of GJP with | | Juvenile polyposis syndrome (JPS) is a gastrointestinal | cancer that can be used for planning the therapeutic strategy | | polyposis characterized by numerous hamartomatous polyps | remains under discussion. | | and is frequently combined with hereditary hemorrhagic te- | We herein report a case of GJP with intramucosal cancer | | langiectasia (HHT) with the SMAD4 germline pathogenic | in which a target biopsy using magnifying endoscopy with | | variant. JPS is classified into several groups, including gas- | narrow-band imaging (M-NBI) followed by endoscopic re- | | tric juvenile polyposis (GJP) (1, 2) . GJP was first proposed | section helped confirm the preoperative diagnosis. We also | | by Watanabe et al. (3) in 1979, and Hizawa et al. defined | describe the molecular features determined by next- | | the diagnostic criteria (4) . GJP often coexists with gastric cancer, especially with a SMAD4 germline pathogenic variant. In such cases, total gastrectomy should be consid- | generation sequencing (NGS) of the proband. | 1 Department of Gastroenterology, Juntendo University School of Medicine, Japan, 2 Department of Esophageal and Gastroenterological Surgery, Juntendo University School of Medicine, Japan, 3 Department of Human Pathology, Juntendo University Graduate School of Medicine, Japan, 4 Department of Human Pathology, Juntendo University School of Medicine, Japan, 5 Department of Diagnostic Pathology, Ishikawa Prefectural Central Hospital, Japan, 6 Intractable Disease Research Center/Diagnostics and Therapeutics of Intractable Diseases, Juntendo University Graduate School of Medicine, Japan and 7 Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Japan Received: January 13, 2023; Accepted: February 5, 2023; Advance Publication by J-STAGE: March 31, 2023 Correspondence to Dr. Yoichi Akazawa, [yakazawa@juntendo.ac.jp](yakazawa@juntendo.ac.jp) A B C D Figure 1. White-light imaging of gastric juvenile polyposis and histopathological findings of biopsy specimen of the proband. (A, B) a downward and retroflex view of the stomach body showed multiple reddish polyps, including a large, ele

FAQs

Why is preoperative diagnosis of GJP with coexisting cancer difficult?

Even when GJP often coexists with gastric cancer, histopathological confirmation from biopsy specimens can be difficult, making preoperative accurate diagnosis challenging.

What imaging approach helped reveal cancerous findings in this case?

Magnifying endoscopy with narrow-band imaging (M-NBI) showed cancerous findings that were not recognized on conventional endoscopy.

How was the diagnosis confirmed and what genetic result was found?

A target biopsy using M-NBI and subsequent endoscopic resection confirmed juvenile polyposis with intramucosal adenocarcinoma, and genetic analyses identified a germline pathogenic SMAD4 variant.

Sep 24, 2026

Uploaded by Theodore