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

Prognosis; Treatment results; Hamartoma tumour syndrome

Detalles Bibliográficos
Autores: Hendricks, Linda, Verbeek, Katja, Schuurs-Hoeijmakers, Janneke H. M., de Putter, Robin, Brems, Hilde, Van Daele, Sien H., Torres López, Maite, Balmaña, Judith
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2025
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/13537
Acceso en línea:http://hdl.handle.net/11351/13537
Access Level:acceso abierto
Palabra clave:Càncer - Prognosi
Avaluació de resultats (Assistència sanitària)
Càncer - Aspectes genètics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
DISEASES::Neoplasms
DISEASES::Neoplasms::Hamartoma::Hamartoma Syndrome, Multiple
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
ENFERMEDADES::neoplasias
ENFERMEDADES::neoplasias::hamartoma::síndrome de hamartomas múltiples
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oai_identifier_str oai:recercat.cat:11351/13537
network_acronym_str ES
network_name_str España
repository_id_str
dc.title.none.fl_str_mv Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
title Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
spellingShingle Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
Hendricks, Linda
Càncer - Prognosi
Avaluació de resultats (Assistència sanitària)
Càncer - Aspectes genètics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
DISEASES::Neoplasms
DISEASES::Neoplasms::Hamartoma::Hamartoma Syndrome, Multiple
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
ENFERMEDADES::neoplasias
ENFERMEDADES::neoplasias::hamartoma::síndrome de hamartomas múltiples
title_short Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
title_full Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
title_fullStr Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
title_full_unstemmed Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
title_sort Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort study
dc.creator.none.fl_str_mv Hendricks, Linda
Verbeek, Katja
Schuurs-Hoeijmakers, Janneke H. M.
de Putter, Robin
Brems, Hilde
Van Daele, Sien H.
Torres López, Maite
Balmaña, Judith
author Hendricks, Linda
author_facet Hendricks, Linda
Verbeek, Katja
Schuurs-Hoeijmakers, Janneke H. M.
de Putter, Robin
Brems, Hilde
Van Daele, Sien H.
Torres López, Maite
Balmaña, Judith
author_role author
author2 Verbeek, Katja
Schuurs-Hoeijmakers, Janneke H. M.
de Putter, Robin
Brems, Hilde
Van Daele, Sien H.
Torres López, Maite
Balmaña, Judith
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Institut Català de la Salut
[Hendricks LAJ, Verbeek KCJ] Department of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands. Radboud Institute for Medical Innovation, Radboud university medical centre, Nijmegen, the Netherlands. [Schuurs-Hoeijmakers JHM] Department of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands. [de Putter R] Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium. European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. [Brems H] European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. Department of Human Genetics, University of Leuven, Leuven, Belgium. [Van Daele SH] Department of Human Genetics, University of Leuven, Leuven, Belgium. [Balmaña J] European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Torres M] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain
Vall d'Hebron Barcelona Hospital Campus
dc.subject.none.fl_str_mv Càncer - Prognosi
Avaluació de resultats (Assistència sanitària)
Càncer - Aspectes genètics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
DISEASES::Neoplasms
DISEASES::Neoplasms::Hamartoma::Hamartoma Syndrome, Multiple
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
ENFERMEDADES::neoplasias
ENFERMEDADES::neoplasias::hamartoma::síndrome de hamartomas múltiples
topic Càncer - Prognosi
Avaluació de resultats (Assistència sanitària)
Càncer - Aspectes genètics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome
DISEASES::Neoplasms
DISEASES::Neoplasms::Hamartoma::Hamartoma Syndrome, Multiple
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento
ENFERMEDADES::neoplasias
ENFERMEDADES::neoplasias::hamartoma::síndrome de hamartomas múltiples
description Prognosis; Treatment results; Hamartoma tumour syndrome
publishDate 2025
dc.date.none.fl_str_mv 2025
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11351/13537
http://hdl.handle.net/11351/13537
url http://hdl.handle.net/11351/13537
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv BJC Reports;3
https://doi.org/10.1038/s44276-025-00157-y
dc.rights.none.fl_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution 4.0 International
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Nature Portfolio
publisher.none.fl_str_mv Nature Portfolio
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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spelling Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)-a European cohort studyHendricks, LindaVerbeek, KatjaSchuurs-Hoeijmakers, Janneke H. M.de Putter, RobinBrems, HildeVan Daele, Sien H.Torres López, MaiteBalmaña, JudithCàncer - PrognosiAvaluació de resultats (Assistència sanitària)Càncer - Aspectes genèticsANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::PrognosisANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment OutcomeDISEASES::NeoplasmsDISEASES::Neoplasms::Hamartoma::Hamartoma Syndrome, MultipleTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronósticoTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamientoENFERMEDADES::neoplasiasENFERMEDADES::neoplasias::hamartoma::síndrome de hamartomas múltiplesPrognosis; Treatment results; Hamartoma tumour syndromePronòstic; Resultats del tractament; Síndrome de tumor hamartomaPronóstico; Resultados del tratamiento; Síndrome de tumor hamartomaBackground: PTEN 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. Methods: This 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. Results: Overall, 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). Conclusions: The 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.This work has been funded, in part, by the PTEN Research Foundation, a charity governed by English law (charity number 117358) to L.A.J.H. and J.R.V. under grant number RUM 17-002; and Horizon Europe to K.C.J.V. under grant number 101095483.Nature PortfolioInstitut Català de la Salut[Hendricks LAJ, Verbeek KCJ] Department of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands. Radboud Institute for Medical Innovation, Radboud university medical centre, Nijmegen, the Netherlands. [Schuurs-Hoeijmakers JHM] Department of Human Genetics, Radboudumc expert centre for PHTS, Radboud university medical centre, Nijmegen, the Netherlands. [de Putter R] Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium. European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. [Brems H] European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. Department of Human Genetics, University of Leuven, Leuven, Belgium. [Van Daele SH] Department of Human Genetics, University of Leuven, Leuven, Belgium. [Balmaña J] European Reference Network for Genetic Tumour Risk Syndromes (ERN GENTURIS), Nijmegen, the Netherlands. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Torres M] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, SpainVall d'Hebron Barcelona Hospital Campus202520252025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/11351/13537http://hdl.handle.net/11351/13537Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésBJC Reports;3https://doi.org/10.1038/s44276-025-00157-yAttribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/135372026-05-29T05:05:01Z
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