PTEN错构瘤肿瘤综合征（PHTS）患者的癌症预后与治疗结果——一项欧洲队列研究

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

作者信息

Hendricks Linda A J, Verbeek Katja C J, Schuurs-Hoeijmakers Janneke H M, de Putter Robin, Brems Hilde, Van Daele Sien H, Anastasiadou Violetta C, Foretová 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 Arvīds, de Jong Mirjam M, Links Thera P, Leter Edward M, Bosch Daniëlle G M, Donze Stephany H, van der Post Rachel S, Mensenkamp Arjen R, Westdorp Harm, Høberg-Vetti Hildegunn, Tveit Haavind Marianne, Jørgensen Kjersti, Mæhle Lovise, Briskemyr Siri, Garcia Juliette Dupont, 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

机构信息

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.

出版信息

BJC Rep. 2025 Jun 4;3(1):42. doi: 10.1038/s44276-025-00157-y.

DOI:10.1038/s44276-025-00157-y

PMID:40468016

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12137667/

Abstract

BACKGROUND

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.

摘要

背景

PTEN错构瘤肿瘤综合征（PHTS）患者具有较高的遗传性癌症风险，尤其是乳腺癌（BC）、子宫内膜癌（EC）和甲状腺癌（TC）。然而，PHTS相关癌症的预后尚不清楚。

方法

这项欧洲队列研究纳入了成年PHTS患者，其数据来自医疗档案、登记处和/或问卷调查。使用Kaplan-Meier分析评估总生存期（OS），并使用标准化死亡率（SMR）和相对生存率（RSR）与散发性癌症和一般人群进行比较。使用左截断法处理生存偏差。

结果

总体上，纳入了147例乳腺癌患者。10年总生存率为77%（95%置信区间=66-90），随着分期增加而降低，从0期的90%（95%置信区间=73-100）降至IV期的0%（95%置信区间=0-0）。乳腺癌相对生存率在前两年与散发性乳腺癌相当（2年相对生存率=1.1；95%置信区间=1.1-1.1），此后逐渐增加（5年相对生存率=1.7；95%置信区间=1.6-1.7）。对于甲状腺癌（N=56）和子宫内膜癌（N=35），10年总生存率分别为87%（95%置信区间=74-100）和64%（95%置信区间=38-100）。女性PHTS患者的总体死亡率和癌症特异性死亡率超过一般人群（标准化死亡率=3.7；95%置信区间=2.6-5.0和标准化死亡率=2.7；95%置信区间=1.6-4.4）。