Evidence map›Paper›PMID 40468016›Full record

ArticleBJC reports2025

Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study.

Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, Robin de Putter, Hilde Brems, Sien H Van Daele, Violetta C Anastasiadou, Lenka Foretová, Patrick R Benusiglio, Anna Gerasimenko and 40 more

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

50 authors.

Linda A J Hendricks *Department of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-1008-0265
Katja C J Verbeek *Department of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0001-5981-6301
Janneke H M Schuurs-HoeijmakersDepartment of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands.
Robin de PutterCentre for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Hilde BremsEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Sien H Van DaeleDepartment of Human Genetics, University of Leuven, Leuven, Belgium.
Violetta C AnastasiadouEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Lenka ForetováEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Patrick R BenusiglioDepartment of Medical Genetics, Pitié-Salpêtrière Hospital, APHP, Sorbonne University, Paris, France.
Anna GerasimenkoSorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, Hôpital de la Pitié Salpêtrière, 75013, Paris, France.
Chrystelle ColasEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Marie-Charlotte VillyInstitut Curie, Service de Génétique, Paris, France.
Claude HoudayerEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Maud BranchaudUniv Rouen Normandie, Inserm U1245, FHU-G4 Génomique and CHU Rouen, Department of Genetics, 76000, Rouen, France.
Robert HüneburgCentre for Hereditary Tumour Syndromes, University Hospital of Bonn, Bonn, Germany.
Stefan AretzEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Arne JahnInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Verena Steinke-LangeEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Giovanni InnellaDepartment of Medical and Surgical Sciences, Centre for Studies on Hereditary Cancer, University of Bologna, Bologna, Italy.
Daniela TurchettiEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Valeria BariliMedical Genetics, Department of Medicine and Surgery, University of Parma, Parma, Italy.
Maurizio GenuardiEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Arianna PanfiliDepartment of Laboratory and Infectious Diseases, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Margherita BaldassarriMedical Genetics, University of Siena, Siena, Italy.
Arvīds IrmejsEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Mirjam M de JongEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Thera P LinksDepartment of Endocrinology, University of Groningen, University Medical Centre Groningen, Groningen, the Netherlands.
Edward M LeterDepartment of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.
Daniëlle G M BoschDepartment of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, the Netherlands.
Stephany H DonzeDepartment of Clinical Genetics, Erasmus MC Rotterdam, Rotterdam, the Netherlands.
Rachel S van der PostRadboud Institute for Medical Innovation, Radboud university medical centre, Nijmegen, the Netherlands.
Arjen R MensenkampDepartment of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands.
Harm WestdorpDepartment of Medical Oncology, Radboud university medical centre, Nijmegen, the Netherlands.
Hildegunn Høberg-VettiEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Marianne Tveit HaavindWestern Norway Familial Cancer Centre, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
Kjersti JørgensenDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Lovise MæhleDepartment of Medical Genetics, Oslo University Hospital, Oslo, Norway.
Siri BriskemyrDepartment of Medical Genetics, University Hospital of North Norway, Tromsø, Norway.
Juliette Dupont GarciaCentro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Ana BlatnikEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Judith BalmañaEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Maite TorresMedical Oncology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.
Joan BrunetEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Roser Lleuger-PujolHereditary Cancer Program, Catalan Institute of Oncology, IDIBELL-IDIBGI, Barcelona-, Girona, Spain.
Emma ThamEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Marc TischkowitzEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
D Gareth EvansEuropean Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands.
Zerin HyderManchester Centre for Genomic Medicine, St Mary's Hospital, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, UK.
Nicoline HoogerbruggeDepartment of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands.
Janet R VosDepartment of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands. janet.vos@radboudumc.nl.ORCID http://orcid.org/0000-0001-8802-7002

Funding

HORIZON EUROPE Framework Programme 101095483PTEN Research RUM17-002
6 · The paper itself

Abstract

backgroundPTEN hamartoma tumour syndrome (PHTS) patients have a high hereditary risk of cancer, especially breast (BC), endometrial (EC), and thyroid cancer (TC). However, the prognosis of PHTS-related cancers is unknown.

methodsThis European cohort study included adult PHTS patients with data from medical files, registries, and/or questionnaires. Overall survival (OS) was assessed using Kaplan-Meier analyses and were compared with sporadic cancer and the general population using standardized mortality (SMR) and relative survival rates (RSR). Survival bias was addressed using left-truncation.

resultsOverall, 147 BC patients were included. The 10y-OS was 77% (95%CI = 66-90), decreasing with increasing stage from 90% (95%CI = 73-100) for stage 0 to 0% (95%CI = 0-0) for stage IV. BC relative survival was comparable to sporadic BC in the first two years (2y-RSR = 1.1; 95%CI = 1.1-1.1) and increasing thereafter (5y-RSR = 1.7; 95%CI = 1.6-1.7). For TC (N = 56) and EC (N = 35), 10y-OS was 87% (95%CI = 74-100) and 64% (95%CI = 38-100), respectively. Overall and cancer-specific mortality in female PHTS patients exceeded general population rates (SMR = 3.7; 95%CI = 2.6-5.0 and SMR = 2.7; 95%CI = 1.6-4.4).

conclusionsThe prognosis of PHTS-related cancers was comparable to the general population. The higher overall mortality in PHTS patients is presumably related to their higher cancer incidence. These findings, and the high survival observed in early-stage cancer, emphasise the importance of recognising PHTS early to facilitate cancer surveillance.

Identifiers

PMID40468016
PMCPMC12137667

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