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.
MeSH terms
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Adult
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Carcinoma, Signet Ring Cell / etiology
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Carcinoma, Signet Ring Cell / genetics
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Carcinoma, Signet Ring Cell / surgery
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Epistaxis / genetics
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Frameshift Mutation
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Gastrointestinal Neoplasms / etiology
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Gastrointestinal Neoplasms / genetics
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Gastrointestinal Neoplasms / surgery
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Germ-Line Mutation
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Humans
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Intestinal Polyposis / complications
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Intestinal Polyposis / congenital
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Intestinal Polyposis / genetics*
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Male
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Neoplastic Syndromes, Hereditary / complications
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Neoplastic Syndromes, Hereditary / genetics*
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Smad4 Protein / genetics*
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Telangiectasia, Hereditary Hemorrhagic / complications
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Telangiectasia, Hereditary Hemorrhagic / genetics*