Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

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.

Overview publication

TitleCancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
DateOctober 1st, 2020
Issue nameEuropean Journal of Human Genetics
Issue numberv28.10 p1387-1393
DOI10.1038/s41431-020-0651-7
AuthorsTischkowitz M, Colas C, Pouwels S, Hoogerbrugge N, Bisseling T, Bubien V, Caux F, Chabbert-Buffet N, Colas C, Da Mota Gomes S, Gotthardt M, Hoogerbrugge N, Kets M, Lachlan KL, Links TP, Longy M, Mann R, Pouwels S, Kool LS, Semple RK, Stock I, Tischkowitz M, Vos J, Hoogerbrugge N, Ligtenberg M, Oostenbrink R, Sijmons R, Evans G, Woodward E, Tischkowitz M, Maher E, Ferner RE, Aretz S, Spier I, Steinke-Lange V, Holinski-Feder E, Schröck E, Frebourg T, Houdayer C, Colas C, Wolkenstein P, Bours V, Legius E, Poppe B, Claes K, de Putter R, Guillermo IB, Capella G, Vidal JB, Lázaro C, Balmaña J, Hernandez HS, Oliveira C, Teixeira M, Bajalica-Lagercrantz S, Tham E, Lubinski J, Ertmanska K, Melegh B, Krajc M, Blatnik A, Peltonen S & Hietala M
InfoPHTS Guideline Development Group, The European Reference Network GENTURIS
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