Hamartomous polyposis syndromes
Journal Title: Postępy Nauk Medycznych - Year 2015, Vol 28, Issue 1
Abstract
Hamartomas are malformations of mucosa, consisting of disorganized normal tissues. The manifestation of hamartomatous polyps is characteristic of juvenile polyposis syndrome, Peutz-Jeghers’ syndrome, hereditary mixed polyposis syndrome and PTEN hamartoma tumour syndrome. All the aforementioned syndromes are inherited in an autosomal dominant manner. They form a rather heterogeneous group of disorders both in respect to the number and localization of polyps and the risk of cancer in the alimentary tract and other organs. Individual syndromes frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow to make a differential diagnosis. The correct diagnosis of the disease using molecular methods allows to implement early treatment and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition to neoplastic transformation.Research on the inherited hamartomatous polyposis has been conducted by the authors of this article at the Institute of Human Genetics, Polish Academy of Sciences in Poznań. In the DNA bank of Polish patients with polyposis material from 81 families with hamartomatous polyposis has been collected.
Authors and Affiliations
Paweł Boruń, Kacper Sałanowski, Jarosław Walkowiak, Marta Kaczmarek-Ryś, Wojciech Cichy, Andrzej Pławski
Keywords
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