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...

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Detalles Bibliográficos
Autores: 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.
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:2445/223666
Acceso en línea:https://hdl.handle.net/2445/223666
Access Level:acceso abierto
Palabra clave:Oncologia pediàtrica
Càncer d'ovari
Oncologia
Tumors in children
Ovarian cancer
Oncology
Descripción
Sumario: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.

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