Diagnosis and treatment of patients with Peutz- Jeghers syndrome

Authors: E. Kresanová 1;  T. Hlavatý 1;  M. Huorka 1;  Z. Homérová 1;  J. Payer 1;  D. Ilenčíková 2
Authors‘ workplace: V. interná klinika LF UK a FNsP, Bratislava 1;  Oddelenie onkologickej genetiky, Národný onkologický ústav, Bratislava 2
Published in: Gastroent Hepatol 2010; 64(2): 14-21
Category: Review Article


Peutz-Jeghers syndrome is a rare autosomal dominant inherited disease characterized by hamartomatous polyps of the gastrointestinal tract, by mucocutaneous pigmentations and an increased risk of intestinal and extraintestinal tumours. Diagnosis of Peutz-Jeghers syndrome requires mucocutaneous lesions, histological finding of typical hamartomas and genetic analysis. Mutation of gene STK 11, a tumour suppressor gene coding protein serine/threonine kinase 11, is the only known cause of Peutz-Jeghers syndrome. 145 mutations of the gene have been described so far, which is probably the reason for the large phenotypic variability. The treatment strategy is based on regular endoscopic or surgical polypectomy and a special oncological screening programme to prevent severe complications of polyposis and the development of an advanced form of malignancies.

Key words:
phenotype – genotype – hamartomatous polyp – cancer – STK 11/LKB 1 – gene coding serine/threonine kinase – Peutz--Jeghers


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