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Gastric juvenile polyposis associated with germline SMAD4 mutation

✍ Scribed by Kentaro Shikata; Yoji Kukita; Takayuki Matsumoto; Motohiro Esaki; Takashi Yao; Yuichi Mochizuki; Kenshi Hayashi; Mitsuo Iida

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
281 KB
Volume
134A
Category
Article
ISSN
1552-4825

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## Abstract Juvenile polyposis (JP) and hereditary hemorrhagic telangiectasia (HHT) are clinically distinct diseases caused by mutations in __SMAD4__ and __BMPR1A__ (for JP) and __endoglin__ and __ALK1__ (for HHT). Recently, a combined syndrome of JP–HHT was described that is also caused by mutatio

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Juvenile polyps are the most frequent gastrointestinal polyps with a malignant potential for which the genetic basis is unknown. Juvenile polyps, with a normal epithelium but hypertrophic lamina propria, are histologically quite distinct from adenomatous polyps which have dysplastic changes in epith