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癌症易感性背景下的监测未来:透过模糊的镜子。

The Future of Surveillance in the Context of Cancer Predisposition: Through the Murky Looking Glass.

机构信息

The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

St. Jude Children's Research Hospital, Memphis, Tennessee.

出版信息

Clin Cancer Res. 2017 Nov 1;23(21):e133-e137. doi: 10.1158/1078-0432.CCR-17-2026.

DOI:10.1158/1078-0432.CCR-17-2026
PMID:29093018
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7336256/
Abstract

At least 10% of children with cancer harbor a disease-associated pathogenic variant in a known cancer predisposition gene. It is widely accepted that pathogenic variants affecting other genes, epigenetic factors, or abnormalities in additional gene products may contribute to the etiology of many more childhood cancers. Effective preventive measures exist for only a few cancer types associated with predisposing conditions, but the development and implementation of surveillance protocols aimed at reducing morbidity and mortality in at-risk children through the early detection of cancer has emerged as an important clinical tool. The articles in this series present international consensus generated recommendations for surveillance for a wide spectrum of cancer predisposition syndromes affecting children. In this article, we explore the challenges and opportunities for researchers and practitioners in the many fields affiliated with pediatric cancer, and we offer insights into what the future might hold as we continue our efforts to mitigate the impact of cancer susceptibility on children, their families and society.

摘要

至少有 10%的癌症患儿携带有已知的癌症易感基因的致病性变异。人们普遍认为,影响其他基因、表观遗传因素或其他基因产物异常的致病性变异可能导致更多儿童癌症的发生。虽然只有少数几种与易患疾病相关的癌症类型存在有效的预防措施,但通过早期发现癌症来减少高危儿童发病率和死亡率的监测方案的制定和实施已成为一种重要的临床工具。本系列中的文章提出了国际共识,为广泛影响儿童的各种癌症易感综合征的监测制定了建议。在本文中,我们探讨了与儿科癌症相关的多个领域的研究人员和从业者所面临的挑战和机遇,并深入探讨了随着我们继续努力减轻癌症易感性对儿童、其家庭和社会的影响,未来可能会出现哪些情况。

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The Future of Surveillance in the Context of Cancer Predisposition: Through the Murky Looking Glass.癌症易感性背景下的监测未来:透过模糊的镜子。
Clin Cancer Res. 2017 Nov 1;23(21):e133-e137. doi: 10.1158/1078-0432.CCR-17-2026.
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Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr.儿童癌症易感性与监测:概述及对小阿尔弗雷德·G·克努森的致敬
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American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性基因检测
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Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.儿童遗传性胃肠道癌症综合征的癌症筛查建议和临床管理。
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A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children.一种用于在儿科肿瘤学中检测遗传癌症易感性的临床筛查工具具有很高的敏感性,但可能会遗漏相当一部分受影响的儿童。
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本文引用的文献

1
Direct detection of early-stage cancers using circulating tumor DNA.利用循环肿瘤DNA直接检测早期癌症。
Sci Transl Med. 2017 Aug 16;9(403). doi: 10.1126/scitranslmed.aan2415.
2
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis.基于全身磁共振成像的 Li-Fraumeni 综合征的基线监测:一项荟萃分析。
JAMA Oncol. 2017 Dec 1;3(12):1634-1639. doi: 10.1001/jamaoncol.2017.1968.
3
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood.儿童遗传性胃肠道癌症综合征的癌症筛查建议和临床管理。
Clin Cancer Res. 2017 Jul 1;23(13):e107-e114. doi: 10.1158/1078-0432.CCR-17-0790.
4
, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.神经纤维瘤病和相关的肿瘤易感性综合征:儿童的临床特征、遗传学和监测建议。
Clin Cancer Res. 2017 Jun 15;23(12):e76-e82. doi: 10.1158/1078-0432.CCR-17-0629.
5
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome.戈林综合征和横纹肌样瘤易感综合征的癌症监测
Clin Cancer Res. 2017 Jun 15;23(12):e62-e67. doi: 10.1158/1078-0432.CCR-17-0595.
6
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome.Li-Fraumeni 综合征患者的癌症筛查建议。
Clin Cancer Res. 2017 Jun 1;23(11):e38-e45. doi: 10.1158/1078-0432.CCR-17-0408.
7
Pediatric Cancer Predisposition Imaging: Focus on Whole-Body MRI.儿科癌症易感性成像:关注全身 MRI。
Clin Cancer Res. 2017 Jun 1;23(11):e6-e13. doi: 10.1158/1078-0432.CCR-17-0515.
8
Pediatric Cancer Predisposition and Surveillance: An Overview, and a Tribute to Alfred G. Knudson Jr.儿童癌症易感性与监测:概述及对小阿尔弗雷德·G·克努森的致敬
Clin Cancer Res. 2017 Jun 1;23(11):e1-e5. doi: 10.1158/1078-0432.CCR-17-0702.
9
Integrating liquid biopsies into the management of cancer.将液体活检纳入癌症管理中。
Nat Rev Clin Oncol. 2017 Sep;14(9):531-548. doi: 10.1038/nrclinonc.2017.14. Epub 2017 Mar 2.
10
Liquid Biopsies, What We Do Not Know (Yet).液体活检,未解之谜。
Cancer Cell. 2017 Feb 13;31(2):172-179. doi: 10.1016/j.ccell.2017.01.002.