Skip to main content
main-content

01.12.2014 | Review | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

Hamartomatous polyposis syndromes: A review

Zeitschrift:
Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Autoren:
Anne Marie Jelsig, Niels Qvist, Klaus Brusgaard, Claus Buhl Nielsen, Tine Plato Hansen, Lilian Bomme Ousager
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-101) contains supplementary material, which is available to authorized users.

Competing interests

The authors declare that they have no competing interests.

Authors’ contributions

JAM: The main author who has conducted the main part of the literature search and written the first draft. QN: Contributed especially to the sections concerning surveillance and surgical interventions. BK: Contributed mainly to the sections concerning genetics and Next Generation Sequencing. NCB: Contributed especially to the section of Peutz-Jeghers Syndrome as well as providing pictures for the review. HTP: Contributed with histopathological descriptions and illustrations. OLB: Contributed especially to the part of Juvenile Polyposis syndrome, genetics and surveillance. All authors read and approved the final manuscript.

Abstract

Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.
The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs.
Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.
Zusatzmaterial
Authors’ original file for figure 1
13023_2014_785_MOESM1_ESM.jpeg
Authors’ original file for figure 2
13023_2014_785_MOESM2_ESM.jpeg
Authors’ original file for figure 3
13023_2014_785_MOESM3_ESM.jpeg
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2014

Orphanet Journal of Rare Diseases 1/2014 Zur Ausgabe