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儿童癌症易感性与监测最新进展:总结观点与未来方向

Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions.

作者信息

Brodeur Garrett M, Diller Lisa R, Nichols Kim E, Plon Sharon E, Porter Christopher C, Malkin David

机构信息

Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania.

Dana-Farber Cancer Institute, Boston Children's Hospital, Boston, Massachusetts.

出版信息

Clin Cancer Res. 2025 Jul 1;31(13):2581-2588. doi: 10.1158/1078-0432.CCR-25-0423.

DOI:10.1158/1078-0432.CCR-25-0423
PMID:40327330
Abstract

An increasing number of studies suggest that a significant proportion of children with cancer harbor an underlying predisposition to malignancy, and it is likely that this proportion will only increase. Targeted surveillance for these individuals would likely improve outcomes. Historically, however, for most predisposition syndromes, there were no standardized surveillance protocols for early detection of cancer in predisposed individuals. Therefore, the Pediatric Cancer Working Group of the American Association for Cancer Research convened a workshop in 2016 to develop consensus surveillance recommendations (published in 2017) for children and adolescents with the most common cancer predisposition syndromes. These recommendations provided a consistent approach for pediatric oncologists and other care providers to use as a plan for cancer surveillance in pediatric patients with these syndromes. We held a second workshop in 2023 to update recommendations based upon new data, as well as to add syndromes that were newly described or not addressed in the prior workshop. The resulting articles represent updated surveillance recommendations for currently recognized predisposition syndromes, organized along similar themes. We also address novel approaches to surveillance that are under investigation, as well as prospects for prevention trials for these high-risk populations.

摘要

越来越多的研究表明,相当一部分患癌儿童存在潜在的恶性肿瘤易感性,而且这一比例很可能还会上升。对这些个体进行有针对性的监测可能会改善治疗结果。然而,从历史上看,对于大多数易感性综合征,并没有针对易患个体早期癌症检测的标准化监测方案。因此,美国癌症研究协会的儿科癌症工作组在2016年召开了一次研讨会,以制定针对患有最常见癌症易感性综合征的儿童和青少年的共识监测建议(于2017年发表)。这些建议为儿科肿瘤学家和其他护理人员提供了一种一致的方法,作为对患有这些综合征的儿科患者进行癌症监测的计划。我们在2023年举办了第二次研讨会,根据新数据更新建议,并增加在之前研讨会上新描述或未涉及的综合征。由此产生的文章代表了针对目前公认的易感性综合征的最新监测建议,按类似主题进行组织。我们还探讨了正在研究的新型监测方法,以及针对这些高危人群进行预防试验的前景。

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本文引用的文献

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Update on Surveillance in Von Hippel-Lindau Disease.冯·希佩尔-林道病的监测最新进展
Clin Cancer Res. 2025 Jun 13;31(12):2271-2277. doi: 10.1158/1078-0432.CCR-24-3525.
2
Update on Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.李-弗劳梅尼综合征患者癌症筛查建议的最新情况。
Clin Cancer Res. 2025 May 15;31(10):1831-1840. doi: 10.1158/1078-0432.CCR-24-3301.
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Update on Retinoblastoma Predisposition and Surveillance Recommendations for Children.儿童视网膜母细胞瘤易感性及监测建议的最新情况
Clin Cancer Res. 2025 May 1;31(9):1573-1579. doi: 10.1158/1078-0432.CCR-24-3271.
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Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.小儿NF2、SMARCB1和LZTR1相关神经鞘瘤病的癌症及中枢神经系统肿瘤监测最新进展
Clin Cancer Res. 2025 Apr 14;31(8):1400-1406. doi: 10.1158/1078-0432.CCR-24-3278.
5
Rare germline structural variants increase risk for pediatric solid tumors.罕见的种系结构变异会增加儿童实体瘤的风险。
Science. 2025 Jan 3;387(6729):eadq0071. doi: 10.1126/science.adq0071.
6
Update on Cancer Screening in Children with Syndromes of Bone Lesions, Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome, and Other Rare Syndromes.骨病变综合征、遗传性平滑肌瘤病和肾细胞癌综合征及其他罕见综合征患儿癌症筛查的最新进展
Clin Cancer Res. 2025 Feb 3;31(3):457-465. doi: 10.1158/1078-0432.CCR-24-2171.
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Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex.PTEN错构瘤肿瘤综合征、DICER1相关肿瘤易感性和结节性硬化症复合体的儿科监测建议更新
Clin Cancer Res. 2025 Jan 17;31(2):234-244. doi: 10.1158/1078-0432.CCR-24-1947.
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Update on Surveillance Guidelines in Emerging Wilms Tumor Predisposition Syndromes.儿童肾母细胞瘤易感综合征监测指南的更新
Clin Cancer Res. 2025 Jan 6;31(1):18-24. doi: 10.1158/1078-0432.CCR-24-2488.
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