Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort study
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 m...
| Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2025 |
| País: | España |
| Recursos: | 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:2445/223666 |
| Acesso em linha: | https://hdl.handle.net/2445/223666 |
| Access Level: | acceso abierto |
| Palavra-chave: | Oncologia pediàtrica Càncer d'ovari Oncologia Tumors in children Ovarian cancer Oncology |
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Cancer prognosis and treatment results in patients with PTEN Hamartoma Tumour Syndrome (PHTS)—a European cohort studyHendricks, Linda A. J.Verbeek, Katja C. J.Schuurs Hoeijmakers, Janneke H.M.Putter, Robin deBrems, HildeDaele, Sien H. vanAnastasiadou, Violetta C.Foretova, LenkaBenusiglio, Patrick R.Gerasimenko, AnnaColas, ChrystelleVilly, Marie CharlotteHoudayer, ClaudeBranchaud, MaudHüneburg, RobertAretz, StefanJahn, ArneSteinke-Lange, VerenaInnella, GiovanniTurchetti, DanielaBarili, ValeriaGenuardi, MaurizioPanfili, AriannaBaldassarri, MargheritaIrmejs, ArvidsJong, Mirjam M. deLinks, Thera P.Leter, Edward M.Bosch, Daniëlle G.M.Donze, Stephany H.Post, Rachel S. van derMensenkamp, Arjen R.Westdorp, HarmHøberg-Vetti, HildegunnTveit Haavind, MarianneJørgensen, KjerstiMæhle, LoviseBriskemyr, SiriDupont Garcia, JulietteBlatnik, AnaBalmaña, JudithTorres, MaiteBrunet, JoanLleuger Pujol, RoserTham, EmmaTischkowitz, MarcEvans, D.GarethHyder, ZerinHoogerbrugge, NicolineVos, Janet R.Oncologia pediàtricaCàncer d'ovariOncologiaTumors in childrenOvarian cancerOncologyBackgroundPTEN 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.Springer Science and Business Media LLC2025202520252025info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion10 p.application/pdfhttps://hdl.handle.net/2445/223666Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1038/s44276-025-00157-yBJC Reports, 2025, vol. 3, 42https://doi.org/10.1038/s44276-025-00157-ycc-by (c) Hendricks, Linda A. J. et al., 2025http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2236662026-05-29T05:05:01Z |
| 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 A. J. Oncologia pediàtrica Càncer d'ovari Oncologia Tumors in children Ovarian cancer Oncology |
| 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 A. J. Verbeek, Katja C. J. Schuurs Hoeijmakers, Janneke H.M. Putter, Robin de Brems, Hilde Daele, Sien H. van Anastasiadou, Violetta C. Foretova, Lenka Benusiglio, Patrick R. Gerasimenko, Anna Colas, Chrystelle Villy, Marie Charlotte Houdayer, Claude Branchaud, Maud Hüneburg, Robert Aretz, Stefan Jahn, Arne Steinke-Lange, Verena Innella, Giovanni Turchetti, Daniela Barili, Valeria Genuardi, Maurizio Panfili, Arianna Baldassarri, Margherita Irmejs, Arvids Jong, Mirjam M. de Links, Thera P. Leter, Edward M. Bosch, Daniëlle G.M. Donze, Stephany H. Post, Rachel S. van der Mensenkamp, Arjen R. Westdorp, Harm Høberg-Vetti, Hildegunn Tveit Haavind, Marianne Jørgensen, Kjersti Mæhle, Lovise Briskemyr, Siri Dupont Garcia, Juliette Blatnik, Ana Balmaña, Judith Torres, Maite Brunet, Joan Lleuger Pujol, Roser Tham, Emma Tischkowitz, Marc Evans, D.Gareth Hyder, Zerin Hoogerbrugge, Nicoline Vos, Janet R. |
| author |
Hendricks, Linda A. J. |
| author_facet |
Hendricks, Linda A. J. Verbeek, Katja C. J. Schuurs Hoeijmakers, Janneke H.M. Putter, Robin de Brems, Hilde Daele, Sien H. van Anastasiadou, Violetta C. Foretova, Lenka Benusiglio, Patrick R. Gerasimenko, Anna Colas, Chrystelle Villy, Marie Charlotte Houdayer, Claude Branchaud, Maud Hüneburg, Robert Aretz, Stefan Jahn, Arne Steinke-Lange, Verena Innella, Giovanni Turchetti, Daniela Barili, Valeria Genuardi, Maurizio Panfili, Arianna Baldassarri, Margherita Irmejs, Arvids Jong, Mirjam M. de Links, Thera P. Leter, Edward M. Bosch, Daniëlle G.M. Donze, Stephany H. Post, Rachel S. van der Mensenkamp, Arjen R. Westdorp, Harm Høberg-Vetti, Hildegunn Tveit Haavind, Marianne Jørgensen, Kjersti Mæhle, Lovise Briskemyr, Siri Dupont Garcia, Juliette Blatnik, Ana Balmaña, Judith Torres, Maite Brunet, Joan Lleuger Pujol, Roser Tham, Emma Tischkowitz, Marc Evans, D.Gareth Hyder, Zerin Hoogerbrugge, Nicoline Vos, Janet R. |
| author_role |
author |
| author2 |
Verbeek, Katja C. J. Schuurs Hoeijmakers, Janneke H.M. Putter, Robin de Brems, Hilde Daele, Sien H. van Anastasiadou, Violetta C. Foretova, Lenka Benusiglio, Patrick R. Gerasimenko, Anna Colas, Chrystelle Villy, Marie Charlotte Houdayer, Claude Branchaud, Maud Hüneburg, Robert Aretz, Stefan Jahn, Arne Steinke-Lange, Verena Innella, Giovanni Turchetti, Daniela Barili, Valeria Genuardi, Maurizio Panfili, Arianna Baldassarri, Margherita Irmejs, Arvids Jong, Mirjam M. de Links, Thera P. Leter, Edward M. Bosch, Daniëlle G.M. Donze, Stephany H. Post, Rachel S. van der Mensenkamp, Arjen R. Westdorp, Harm Høberg-Vetti, Hildegunn Tveit Haavind, Marianne Jørgensen, Kjersti Mæhle, Lovise Briskemyr, Siri Dupont Garcia, Juliette Blatnik, Ana Balmaña, Judith Torres, Maite Brunet, Joan Lleuger Pujol, Roser Tham, Emma Tischkowitz, Marc Evans, D.Gareth Hyder, Zerin Hoogerbrugge, Nicoline Vos, Janet R. |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Oncologia pediàtrica Càncer d'ovari Oncologia Tumors in children Ovarian cancer Oncology |
| topic |
Oncologia pediàtrica Càncer d'ovari Oncologia Tumors in children Ovarian cancer Oncology |
| description |
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. |
| publishDate |
2025 |
| dc.date.none.fl_str_mv |
2025 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 |
https://hdl.handle.net/2445/223666 |
| url |
https://hdl.handle.net/2445/223666 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
| dc.relation.none.fl_str_mv |
Reproducció del document publicat a: https://doi.org/10.1038/s44276-025-00157-y BJC Reports, 2025, vol. 3, 42 https://doi.org/10.1038/s44276-025-00157-y |
| dc.rights.none.fl_str_mv |
cc-by (c) Hendricks, Linda A. J. et al., 2025 http://creativecommons.org/licenses/by/3.0/es/ info:eu-repo/semantics/openAccess |
| rights_invalid_str_mv |
cc-by (c) Hendricks, Linda A. J. et al., 2025 http://creativecommons.org/licenses/by/3.0/es/ |
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openAccess |
| dc.format.none.fl_str_mv |
10 p. application/pdf |
| dc.publisher.none.fl_str_mv |
Springer Science and Business Media LLC |
| publisher.none.fl_str_mv |
Springer Science and Business Media LLC |
| dc.source.none.fl_str_mv |
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) 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 |
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Recercat. Dipósit de la Recerca de Catalunya |
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1869406686184210432 |
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15,811543 |