Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

Nom de la revue
European Journal of Human Genetics
Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, Tanya Bisseling, Virginie Bubien, Frederic Caux, Nathalie Chabbert-Buffet, Chrystelle Colas, Sophie Da Mota Gomes, Martin Gotthardt, Nicoline Hoogerbrugge, Marleen Kets, Katherine L. Lachlan, Thera P. Links, Michel Longy, Ritse Mann, Sjaak Pouwels, Leo Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet Vos, Nicoline Hoogerbrugge, Marjolijn Ligtenberg, Rianne Oostenbrink, Rolf Sijmons, Gareth Evans, Emma Woodward, Marc Tischkowitz, Eamonn Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke-Lange, Elke Holinski-Feder, Evelin Schröck, Thierry Frebourg, Claude Houdayer, Chrystelle Colas, Pierre Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin de Putter, Ignacio Blanco Guillermo, Gabriel Capella, Joan Brunet Vidal, Conxi Lázaro, Judith Balmaña, Hector Salvador Hernandez, Carla Oliveira, Manuel Teixeira, Svetlana Bajalica-Lagercrantz, Emma Tham, Jan Lubinski, Karolina Ertmanska, Bela Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala, ,

AbstractPTEN 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.