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a hepatologie

Gastroenterology and Hepatology

Čes a Slov Gastroent a Hepatol 2010; 64(2): 14-21.

Diagnosis and treatment of patients with Peutz-Jeghers syndrome

Ema Kresanová  , Tibor Hlavatý  1, Martin Huorka  2, Zuzana Homerová  , Juraj Payer  1, Denisa Ilenčíková  

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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.


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