Familial juvenile polyposis syndrome with a novel SMAD4 germline mutation
Yutaka Honda1, Yuichi Sato2, Junji Yokoyama3
1Department of Endoscopy, Niigata University Medical and Dental Hospital, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, 951-8510, Japan. yutakatheskywalker@gmail.com.
Insights
Familial juvenile polyposis syndrome (JPS) is a genetic disorder causing numerous gastrointestinal polyps. This case highlights a mother and daughter with JPS and a new SMAD4 gene mutation.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Juvenile polyposis syndrome (JPS) is an inherited condition characterized by the growth of juvenile polyps (JPs) in the gastrointestinal tract.
- JPS is linked to mutations in the SMAD4 or BMPR1A genes and increases the risk of gastrointestinal cancer.
- Familial inheritance patterns are observed, but specific genetic variants can vary.
Purpose of the Study:
- To report a mother-daughter case of familial juvenile polyposis syndrome.
- To identify the underlying genetic mutation responsible for the syndrome in this family.
- To describe the clinical presentation and management of familial JPS.
Main Methods:
- Clinical case reporting of a mother and daughter diagnosed with JPS.
- Endoscopic examination and biopsy for polyp diagnosis.
- Germline mutation analysis to identify genetic variants in SMAD4 and BMPR1A genes.
Main Results:
- A 29-year-old female presented with severe anemia and hypoproteinemia due to numerous gastric JPs.
- The patient's mother also had multiple JPs across the stomach, duodenum, jejunum, and colon.
- Germline mutation analysis revealed a novel pathogenic SMAD4 variant in both patients.
Conclusions:
- The reported cases represent familial juvenile polyposis syndrome with a distinct clinical presentation.
- The identification of a novel SMAD4 variant expands the known mutational spectrum for JPS.
- Early diagnosis and genetic analysis are crucial for managing familial JPS and associated risks.
Abstract:
Juvenile polyposis syndrome (JPS) is a dominantly inherited disorder characterized by the development of numerous juvenile polyps (JPs) of the gastrointestinal tract, and associated with a mutation of the SMAD4 or BMPR1A gene. Here, we report a mother-daughter case of familial JPS. A 29-year-old female patient with severe iron deficiency anemia and hypoproteinemia had numerous polyps in the stomach and a few polyps in the ileum and colon that were detected endoscopically. Biopsy specimens from the gastric polyps were diagnosed as JPs. The patient underwent a laparoscopy-assisted total gastrectomy, and her anemia and hypoproteinemia improved. Her mother also had multiple JPs in the stomach, duodenum, jejunum, and colon. We then diagnosed them as having familial JPS. Moreover, germline mutation analysis of the 2 patients presented a novel pathogenic SMAD4 variant.
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