Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Publication year
2020Source
European Journal of Human Genetics, 28, 10, (2020), pp. 1387-1393ISSN
Publication type
Article / Letter to editor

Display more detailsDisplay less details
Organization
Gastroenterology
Medical Imaging
Human Genetics
Pathology
Journal title
European Journal of Human Genetics
Volume
vol. 28
Issue
iss. 10
Page start
p. 1387
Page end
p. 1393
Subject
Radboudumc 14: Tumours of the digestive tract RIMLS: Radboud Institute for Molecular Life Sciences; Radboudumc 16: Vascular damage RIHS: Radboud Institute for Health Sciences; Radboudumc 17: Women's cancers RIHS: Radboud Institute for Health SciencesAbstract
PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
This item appears in the following Collection(s)
- Academic publications [227613]
- Electronic publications [107273]
- Faculty of Medical Sciences [86193]
- Open Access publications [76399]
Upload full text
Use your RU credentials (u/z-number and password) to log in with SURFconext to upload a file for processing by the repository team.