In a 35-year old man with deep venous thrombosis liver metastases of an adenocarcinoma were observed. The primary tumour was not found. The patient had pigmentations on the lips and hamartomatous polyposis of the intestine. These findings indicate Peutz-Jeghers syndrome. In this syndrome there is an increased risk of, notably, gastrointestinal malignancy at an early age. Recent investigations have shown that Peutz-Jeghers syndrome is associated with a mutation in the STK11 gene on chromosome 19.
|Translated title of the contribution||Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor|
|Number of pages||4|
|Journal||Nederlands Tijdschrift voor Geneeskunde|
|Publication status||Published - 1 Apr 2000|