Massive Gastric Juvenile Polyposis

Lawless, Margaret E.; Toweill, Daniel; Jewell, Kim D.; Jain, Dhanpat; Lamps, Laura W.; Krasinskas, Alyssa M.; Swanson, Paul E.; Upton, Melissa P.; Yeh, Matthew M.

doi:10.1093/ajcp/aqx015

Cited by 19 publications

(13 citation statements)

References 22 publications

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“…However, it is very difficult to accurately diagnose cancerous lesions among the numerous polyps present in cases of GJP coexisting with gastric cancer. Indeed, no case study has yet reported an accurate initial diagnosis of coexisting GJP and cancerous lesions with M-NBI and a target biopsy (Table) (15)(16)(17)(18)(19)(20)(21). In the present case, M-NBI was able to diagnose cancer in part of the large, elevated lesion, and we were able to perform a target biopsy.…”

Section: Discussionmentioning

confidence: 53%

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

et al. 2023

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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, and a 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.

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Section: Discussionmentioning

confidence: 53%

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

et al. 2023

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“…Some studies have reported an association between the germline variants of SMAD4 and the frequency of gastric lesions and HHT [30,31]. In a study of immunostaining for SMAD4 in gastric lesions of JPS, SMAD4 expression disappeared in 70%-80% of cases, suggesting that SMAD4 immunostaining may be effective as a screening test [32,33]. Patients with SMAD4 pathogenic variants have also been reported to have various complications such as pulmonary arteriovenous malformation, aortic arch dilatation, protein-losing enteropathy, and immunodeficiency [34][35][36].…”

Section: Explanationmentioning

confidence: 99%

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication

Matsumoto

Umeno

Jimbo

et al. 2023

J Anus Rectum Colon

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Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.

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“…Several cases have reported that the histological findings of intervening mucosa in gastric JPS show inflammatory changes that are sometimes similar to those of polyp lesions, as in the present case. 2,5 Therefore, the description of intervening mucosa in the Japanese diagnostic criteria for JPS is not always applicable to gastric JPS. In such cases, germline genetic testing and SMAD4 immunostaining can be useful to differentiate JPS from CCS.…”

Section: Germline Genetic Testing Of Blood (National Cancermentioning

confidence: 99%

“…4 Therefore, it is believed that JPS and CCS can be distinguished by histological findings of the intervening mucosa. 2 Herein, we report a case of massive gastric JPS, in which abnormal findings of the intervening mucosa and lack of family history made the diagnosis difficult.…”

mentioning

confidence: 97%

“…Therefore, it is difficult to distinguish between JPS and CCS in patients without a family history of JPS or typical physical findings of CCS. 2 The Japanese diagnostic criteria for JPS state that no inflammatory changes or edema are observed histologically or endoscopically in the intervening mucosa between polyps in patients with JPS. 1,3 In contrast, the Japanese diagnostic criteria for CCS state that inflammatory changes and edema similar to those in the polyps are seen in the intervening mucosa between polyps in patients with CCS.…”

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confidence: 99%

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Gastric juvenile polyposis syndrome with inflammatory changes in the intervening mucosa

Nikaido

Takimoto

Sakurai

et al. 2023

Pathology International

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Juvenile polyposis syndrome (JPS) is an autosomal dominant inherited disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract, and is caused by germline mutations in SMAD4 or BMPR1A. 1 However, no pathogenic variant is found in 40% of cases, and one‐fourth of cases occur without a family history. Multiple polyps are typically found in the colon (98%), stomach (14%), duodenum (7%), jejunum, and ileum (7%).This article is protected by copyright. All rights reserved.

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Massive Gastric Juvenile Polyposis

Abstract: SMAD4 immunohistochemstry is a helpful ancillary diagnostic test in cases of suspected juvenile polyposis syndrome involving the stomach.

Cited by 19 publications

References 22 publications

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

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

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication

Gastric juvenile polyposis syndrome with inflammatory changes in the intervening mucosa

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