open access

Vol 72, No 2 (2022)
Review paper
Published online: 2022-04-08
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Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

Tomasz Pytrus1, Karolina Pesz2, Anna Kofla-Dlubacz1, Andrzej Stawarski1, Justyna Gil2
DOI: 10.5603/NJO.2022.0019
·
Nowotwory. Journal of Oncology 2022;72(2):131-134.
Affiliations
  1. 2nd Department of Paediatrics, Gastroenterology and Nutrition, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland
  2. Department of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland

open access

Vol 72, No 2 (2022)
Genetics and oncology
Published online: 2022-04-08

Abstract

Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple po­lyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes.

Abstract

Hamartomatous polyp syndromes are a clinically and genetically heterogenous group of rare disorders that fall into the category of inherited predisposition to cancer. They include Peutz-Jeghers syndrome, Cowden syndrome, juvenile polyposis and mixed hereditary polyposis. Although the shared common characteristic is the presence of multiple po­lyps in the gastrointestinal tract, they differ by the number, age of onset and histopathological features of the polyps, clinical picture and presentation, as well as the approach to genetic testing. With the recognition of the importance of providing high quality medical care, that is equal diagnostic and therapeutic opportunities to patients with rare disorders (Uchwała nr 110 Rady Ministrów z dnia 24 sierpnia 2021 r. w sprawie przyjęcia dokumentu „Plan dla chorób rzadkich”), the authors would like to present the essential (fundamental) aspects of the above-mentioned syndromes.

Get Citation

Keywords

hamartomatous polyps; clinical presentation; genetics

About this article
Title

Selected syndromes of hamartomatous polyposis of the gastrointestinal tract – clinical and genetic aspects

Journal

Nowotwory. Journal of Oncology

Issue

Vol 72, No 2 (2022)

Article type

Review paper

Pages

131-134

Published online

2022-04-08

Page views

237

Article views/downloads

35

DOI

10.5603/NJO.2022.0019

Bibliographic record

Nowotwory. Journal of Oncology 2022;72(2):131-134.

Keywords

hamartomatous polyps
clinical presentation
genetics

Authors

Tomasz Pytrus
Karolina Pesz
Anna Kofla-Dlubacz
Andrzej Stawarski
Justyna Gil

References (30)
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