1. [Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome in a patient a with SMAD4 mutation].
- Author
-
Jelsig AM, Tørring PM, Wikman F, Mortensen MB, Qvist N, and Ousager LB
- Subjects
- Adult, Carcinoma, Signet Ring Cell etiology, Carcinoma, Signet Ring Cell genetics, Carcinoma, Signet Ring Cell surgery, Epistaxis genetics, Frameshift Mutation, Gastrointestinal Neoplasms etiology, Gastrointestinal Neoplasms genetics, Gastrointestinal Neoplasms surgery, Germ-Line Mutation, Humans, Intestinal Polyposis complications, Intestinal Polyposis congenital, Male, Neoplastic Syndromes, Hereditary complications, Telangiectasia, Hereditary Hemorrhagic complications, Intestinal Polyposis genetics, Neoplastic Syndromes, Hereditary genetics, Smad4 Protein genetics, Telangiectasia, Hereditary Hemorrhagic genetics
- Abstract
Germ line mutations in SMAD4 can cause both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia syndrome. In this case we present a 37-year-old man with a frameshift mutation in SMAD4. The patient had multiple polyps in the gastrointestinal tract and was diagnosed with colon cancer at the age of 21 and gastro-oesophageal junction cancer at the age of 37. Furthermore the patient had telangiectasias and recurrent epistaxis.
- Published
- 2014