PTEN错构瘤综合征（PHTS）中发生第二种原发性癌症的风险。

The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

作者信息

Hendricks Linda A J, Verbeek Katja C J, Schuurs-Hoeijmakers Janneke H M, de Jong Mirjam M, Links Thera P, Brems Hilde, Aerden Mio, Brunet Joan, Lleuger-Pujol Roser, Hüneburg Robert, Aretz Stefan, Colas Chrystelle, Villy Marie-Charlotte, Woodward Emma R, Evans D Gareth, Bosch Daniëlle G M, Donze Stephany H, Foretová Lenka, Blatnik Ana, Leter Edward M, Tischkowitz Marc, Jahn Arne, de Putter Robin, Dupont Juliette, Briskemyr Siri, Steinke-Lange Verena, Baldassarri Margherita, Anastasiadou Violetta C, Irmejs Arvīds, Oliveira Carla, van der Post Rachel S, Mensenkamp Arjen R, Tesi Bianca, Mu Ninni, Benusiglio Patrick R, Gerasimenko Anna, Innella Giovanni, Turchetti Daniela, Houdayer Claude, Branchaud Maud, Høberg-Vetti Hildegunn, Haavind Marianne Tveit, Balmaña Judith, Torres Maite, Genuardi Maurizio, Panfili Arianna, Jørgensen Kjersti, Mæhle Lovise, Hoogerbrugge Nicoline, Vos Janet R

机构信息

Department of Human Genetics, Radboudumc expert center for PHTS, Radboud university medical center, Nijmegen, the Netherlands; Radboud university medical center, Radboud Institute for Medical Innovation, Nijmegen, the Netherlands.

Department of Human Genetics, Radboudumc expert center for PHTS, Radboud university medical center, Nijmegen, the Netherlands.

出版信息

Genet Med. 2025 May 24:101467. doi: 10.1016/j.gim.2025.101467.

DOI:10.1016/j.gim.2025.101467

PMID:40433764

Abstract

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.

摘要

目的

患有PTEN错构瘤肿瘤综合征（PHTS）的患者患乳腺癌、子宫内膜癌和甲状腺癌的遗传癌症风险较高。患者会发生多种原发性癌症，但这些风险仍不确定。我们旨在提供第二次原发性癌症的风险。

方法

这项欧洲队列研究使用来自医疗档案和/或登记处的数据，通过Kaplan-Meier分析评估第二次原发性癌症的风险。

结果

总体而言，纳入了279例患有癌症的成年PHTS患者（80%为女性）。在女性中，112例（54%）在与PHTS相关的首次原发性癌症后发生了与PHTS相关的第二次原发性癌症，而11例（30%）男性在与PHTS相关的首次原发性癌症后发生了与PHTS相关的第二次原发性癌症。女性与PHTS相关的第二次原发性癌症的5年和10年风险分别为23%（95%CI=16-31）和46%（95%CI=37-56），男性分别为18%（95%CI=8-38）和23%（95%CI=11-45）。此外，首次原发性乳腺癌后第二次原发性乳腺癌的5年和10年风险分别为23%（95%CI=15-35）和46%（95%CI=33-60）。