Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome
Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group, Tanya M. Bisseling, Virginie Bubien, F. Caux, Nathalie Chabbert‐Buffet, Chrystelle Colas, Sophie Da Mota Gomes, Martin Gotthardt, Nicoline Hoogerbrugge, Marleen Kets, Katherine Lachlan, Thera P. Links, Michel Longy, Ritse M. Mann, Sjaak Pouwels, Leo J. Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet R. Vos, The European Reference Network GENTURIS, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Rianne Oostenbrink, Rolf H. Sijmons, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Eamonn R. Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke‐Lange, Elke Holinski‐Feder, Evelin Schröck, Thierry Frébourg, Claude Houdayer, Chrystelle Colas, P. Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin De Putter, Ignacio Blanco Guillermo, Gabriel Capellá, Joan Brunet Vidal, Conxi Lázaro, Judith Balmañà, Hector Salvador Hernandez, Carla Oliveíra, Manuel R. Teixeira, Svetlana Bajalica‐Lagercrantz, Emma Tham, Jan Lubiński, Karolina Ertmańska, Béla Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala
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.