Molecular Genetic Background of Juvenile Polyposis
نویسندگان
چکیده
منابع مشابه
Hamartomatous Polyposis Syndromes: Management and Surveillance Strategies
Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract. This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...
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The three autosomal dominant inherited polyposis syndromes, familial adenomatous polyposis, juvenile polyposis, and Peutz-Jeghers polyposis predispose to colorectal cancer as does hereditary non-polyposis colorectal cancer syndrome. Uncovering the genetic background of these four cancer traits provides the possibility for genetic testing of the family members of an affected patient. Before test...
متن کاملJuvenile polyposis syndrome.
Juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer. The cumulative life-time risk of colorectal cancer is 39% and the relative risk is 34. Juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammator...
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Juvenile Polyposis Syndrome is an uncommon hamartomatous disorder with significant gastrointestinal malignant potential. Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor b pathway, have recently been characterized, and hold significance in the management of patients and at risk family members. This article reviews our knowledge to date of the genetics and clinicopatho...
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BACKGROUND Digestive hamartomatous polyps are a rare entity. They may be sporadic (solitary Peutz-Jeghers polyp or solitary juvenile polyp) or reveal genetic predisposition like Peutz-Jeghers syndrome, juvenile polyposis or Cowden disease. SUMMARY Diagnosis is based on personal and family history and on clinical data including physical signs (in particular dermatological), endoscopic findings...
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