A1 Refereed original research article in a scientific journal

Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome




AuthorsTischkowitz Marc, Colas Chrystelle, Pouwels Sjak, Hoogerbrugge Nicoline; PHTS Guideline Development Group & The European Reference Network GENTURIS

PublisherNATURE PUBLISHING GROUP

Publication year2020

JournalEuropean Journal of Human Genetics

Journal name in sourceEUROPEAN JOURNAL OF HUMAN GENETICS

Journal acronymEUR J HUM GENET

Volume28

Issue10

First page 1387

Last page1393

Number of pages7

ISSN1018-4813

eISSN1476-5438

DOIhttps://doi.org/10.1038/s41431-020-0651-7(external)

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/51894875(external)


Abstract
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.

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Last updated on 2024-26-11 at 14:58