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A case report of adult juvenile polyposis syndrome with SMAD4 pathogenic variant

Yutong Liu1, Zeyu Wang1, Zhongyu Zhang1

  • 1Department of Oncology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Frontiers in Oncology
|March 23, 2023
PubMed

Insights

Juvenile polyposis syndrome (JPS) is a rare disorder characterized by gastrointestinal polyps. This case highlights rare massive gastric polyposis and the importance of genetic testing for SMAD4 variants.

Area of Science:

  • Gastroenterology and Genetics
  • Rare genetic disorders
  • Gastrointestinal polyposis syndromes

Background:

  • Juvenile polyposis syndrome (JPS) is an autosomal dominant hamartomatous polyp syndrome with an incidence of approximately 1/100,000.
  • Clinical manifestations typically involve multiple juvenile polyps, predominantly in the colorectal tract.
  • Gastric involvement in JPS is considered relatively uncommon.

Observation:

  • A 50-year-old male presented with abdominal distension and poor appetite.
  • Gastroscopy revealed extensive gastric polyposis, confirmed pathologically as juvenile polyps.
  • The patient had a history of colon and bladder cancer; his brothers had colon cancer and colon polyps.

Findings:

  • Genetic analysis identified a SMAD4: c.266_269del germline pathogenic variant in the patient and his brother.
  • The diagnosis was confirmed as juvenile polyposis syndrome affecting the stomach.
  • This case underscores the association between SMAD4 mutations and JPS with significant gastric polyposis.

Implications:

  • Massive gastric polyposis warrants prompt genetic testing to facilitate early diagnosis and management of JPS.
  • Identifying SMAD4 variants is crucial for understanding the genetic basis and clinical spectrum of JPS.
  • Early detection and management can potentially mitigate cancer risks associated with JPS.
Abstract

Keywords:
SMAD4 pathogenic variantscase reportgastric polyposisjuvenile polyposisjuvenile polyposis syndrome

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