Juvenil polypose-syndrom og hereditaer haemoragisk telangiektasi hos en patient med SMAD4-mutation
Sammanfattning
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.