Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, Mirjam M de Jong, Thera P Links, Hilde Brems, Mio Aerden, Joan Brunet, Roser Lleuger-Pujol, Robert Hüneburg, Stefan Aretz, Chrystelle Colas, Marie-Charlotte Villy, Emma R Woodward, D Gareth Evans, Daniëlle G M Bosch, Stephany H Donze, Lenka Foretová, Ana Blatnik, Edward M Leter, Marc Tischkowitz, Arne Jahn, Robin de Putter, Juliette Dupont, Siri Briskemyr, Verena Steinke-Lange, Margherita Baldassarri, Violetta C Anastasiadou, Arvīds Irmejs, Carla Oliveira, Rachel S van der Post, Arjen R Mensenkamp, Bianca Tesi, Ninni Mu, Patrick R Benusiglio, Anna Gerasimenko, Giovanni Innella, Daniela Turchetti, Claude Houdayer, Maud Branchaud, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Judith Balmaña, Maite Torres, Maurizio Genuardi, Arianna Panfili, Kjersti Jørgensen, Lovise Mæhle, Nicoline Hoogerbrugge, Janet R Vos
{"title":"PTEN错构瘤肿瘤综合征（PHTS）发生第二原发癌的风险。","authors":"Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, Mirjam M de Jong, Thera P Links, Hilde Brems, Mio Aerden, Joan Brunet, Roser Lleuger-Pujol, Robert Hüneburg, Stefan Aretz, Chrystelle Colas, Marie-Charlotte Villy, Emma R Woodward, D Gareth Evans, Daniëlle G M Bosch, Stephany H Donze, Lenka Foretová, Ana Blatnik, Edward M Leter, Marc Tischkowitz, Arne Jahn, Robin de Putter, Juliette Dupont, Siri Briskemyr, Verena Steinke-Lange, Margherita Baldassarri, Violetta C Anastasiadou, Arvīds Irmejs, Carla Oliveira, Rachel S van der Post, Arjen R Mensenkamp, Bianca Tesi, Ninni Mu, Patrick R Benusiglio, Anna Gerasimenko, Giovanni Innella, Daniela Turchetti, Claude Houdayer, Maud Branchaud, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Judith Balmaña, Maite Torres, Maurizio Genuardi, Arianna Panfili, Kjersti Jørgensen, Lovise Mæhle, Nicoline Hoogerbrugge, Janet R Vos","doi":"10.1016/j.gim.2025.101467","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Patients with PTEN Hamartoma Tumor Syndrome (PHTS) have high hereditary cancer risks for breast, endometrial, and thyroid cancer. Patients develop multiple primary cancers, but these risks remain uncertain. We aimed to provide the second primary cancer risk.</p><p><strong>Methods: </strong>This European cohort study assessed second primary cancer risks with Kaplan-Meier analyses using data from medical files and/or registries.</p><p><strong>Results: </strong>Overall, 279 adult patients with PHTS with cancer were included (80% female). Among females, 112 (54%) developed a PHTS-related second primary cancer after PHTS-related first primary cancer, whereas 11 (30%) males developed a PHTS-related second primary cancer after PHTS-related first primary cancer. Five- and ten-year PHTS-related second primary cancer risks were 23% (95%CI=16-31) and 46% (95%CI=37-56) for females, and 18% (95%CI=8-38) and 23% (95%CI=11-45) for males, respectively. Furthermore, five- and ten-year risks for second primary breast cancer after first primary breast cancer were 23% (95%CI=15-35) and 46% (95%CI=33-60), respectively.</p><p><strong>Conclusion: </strong>This study demonstrated that patients with PHTS have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potential early detection or prevention of second primary cancer through surveillance or risk-reducing surgery.</p>","PeriodicalId":12717,"journal":{"name":"Genetics in Medicine","volume":" ","pages":"101467"},"PeriodicalIF":6.6000,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).\",\"authors\":\"Linda A J Hendricks, Katja C J Verbeek, Janneke H M Schuurs-Hoeijmakers, Mirjam M de Jong, Thera P Links, Hilde Brems, Mio Aerden, Joan Brunet, Roser Lleuger-Pujol, Robert Hüneburg, Stefan Aretz, Chrystelle Colas, Marie-Charlotte Villy, Emma R Woodward, D Gareth Evans, Daniëlle G M Bosch, Stephany H Donze, Lenka Foretová, Ana Blatnik, Edward M Leter, Marc Tischkowitz, Arne Jahn, Robin de Putter, Juliette Dupont, Siri Briskemyr, Verena Steinke-Lange, Margherita Baldassarri, Violetta C Anastasiadou, Arvīds Irmejs, Carla Oliveira, Rachel S van der Post, Arjen R Mensenkamp, Bianca Tesi, Ninni Mu, Patrick R Benusiglio, Anna Gerasimenko, Giovanni Innella, Daniela Turchetti, Claude Houdayer, Maud Branchaud, Hildegunn Høberg-Vetti, Marianne Tveit Haavind, Judith Balmaña, Maite Torres, Maurizio Genuardi, Arianna Panfili, Kjersti Jørgensen, Lovise Mæhle, Nicoline Hoogerbrugge, Janet R Vos\",\"doi\":\"10.1016/j.gim.2025.101467\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Patients with PTEN Hamartoma Tumor Syndrome (PHTS) have high hereditary cancer risks for breast, endometrial, and thyroid cancer. Patients develop multiple primary cancers, but these risks remain uncertain. We aimed to provide the second primary cancer risk.</p><p><strong>Methods: </strong>This European cohort study assessed second primary cancer risks with Kaplan-Meier analyses using data from medical files and/or registries.</p><p><strong>Results: </strong>Overall, 279 adult patients with PHTS with cancer were included (80% female). Among females, 112 (54%) developed a PHTS-related second primary cancer after PHTS-related first primary cancer, whereas 11 (30%) males developed a PHTS-related second primary cancer after PHTS-related first primary cancer. Five- and ten-year PHTS-related second primary cancer risks were 23% (95%CI=16-31) and 46% (95%CI=37-56) for females, and 18% (95%CI=8-38) and 23% (95%CI=11-45) for males, respectively. Furthermore, five- and ten-year risks for second primary breast cancer after first primary breast cancer were 23% (95%CI=15-35) and 46% (95%CI=33-60), respectively.</p><p><strong>Conclusion: </strong>This study demonstrated that patients with PHTS have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potential early detection or prevention of second primary cancer through surveillance or risk-reducing surgery.</p>\",\"PeriodicalId\":12717,\"journal\":{\"name\":\"Genetics in Medicine\",\"volume\":\" \",\"pages\":\"101467\"},\"PeriodicalIF\":6.6000,\"publicationDate\":\"2025-05-24\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genetics in Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1016/j.gim.2025.101467\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1016/j.gim.2025.101467","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).
Purpose: Patients with PTEN Hamartoma Tumor Syndrome (PHTS) have high hereditary cancer risks for breast, endometrial, and thyroid cancer. Patients develop multiple primary cancers, but these risks remain uncertain. We aimed to provide the second primary cancer risk.
Methods: This European cohort study assessed second primary cancer risks with Kaplan-Meier analyses using data from medical files and/or registries.
Results: Overall, 279 adult patients with PHTS with cancer were included (80% female). Among females, 112 (54%) developed a PHTS-related second primary cancer after PHTS-related first primary cancer, whereas 11 (30%) males developed a PHTS-related second primary cancer after PHTS-related first primary cancer. Five- and ten-year PHTS-related second primary cancer risks were 23% (95%CI=16-31) and 46% (95%CI=37-56) for females, and 18% (95%CI=8-38) and 23% (95%CI=11-45) for males, respectively. Furthermore, five- and ten-year risks for second primary breast cancer after first primary breast cancer were 23% (95%CI=15-35) and 46% (95%CI=33-60), respectively.
Conclusion: This study demonstrated that patients with PHTS have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potential early detection or prevention of second primary cancer through surveillance or risk-reducing surgery.
期刊介绍：
Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health.
GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
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