[Patient with Peutz-Jeghers syndrome and liver metastases from an unknown primary tumor].
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.
van der Werf
G
G
Afd. Inwendige Geneeskunde, Academisch Ziekenhuis Vrije Universiteit, Amsterdam.
Menko
F H
FH
Gille
J J
JJ
van Diest
P J
PJ
van Groeningen
C J
CJ
D000230:Adenocarcinoma / Q000209:etiology / Q000556:secondary; D000328:Adult; D020022:Genetic Predisposition to Disease; D006222:Hamartoma / Q000209:etiology / Q000473:pathology; D006801:Humans; D007414:Intestinal Neoplasms / Q000209:etiology / Q000473:pathology; D008113:Liver Neoplasms / Q000209:etiology / Q000556:secondary; D008297:Male; D009382:Neoplasms, Unknown Primary / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D013924:Thrombophlebitis / Q000209:etiology