A review calling for research directed at early detection of childhood cancers: The clinical, scientific, and economic arguments for population screening and surveillance

John Apps , Timothy A. Ritzmann , JoFen Liu , Dhurgshaarna Shanmugavadivel , Christina Halsey , Kathy Pritchard Jones , Rifat Atun , Kathy Oliver , Kavita Vedhara , Ashley Ball-Gamble , Neil Ranasinghe , Angela Polanco , Jenny Adamski , Adam L. Green , David A. Walker
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Abstract

Childhood cancers are increasingly recognised as disorders of tissue growth and development, through early life into adulthood. A rising proportion are currently considered to be related to a familial predisposition or associated with identified genetic mutations in predisposition genes. Their threat to life and risk of associated serious disability at diagnosis and need for complex life saving therapies makes them a research priority. Inadequate progress has been made in diagnosing childhood cancers earlier within global health systems, which means that their clinical presentations are either missed altogether or constitute high risk emergencies. Whilst knowledge of tumour biology has improved dramatically over the last decade due to the expansion in research technologies directed at innovative approaches to prognostication and treatment. A concerted research initiative to apply this knowledge to making the diagnosis of childhood cancers at earlier points in tumourgenesis has not developed. The risk for a child getting a cancer by the age of 5 is equivalent to the risks of the conditions selected as part of newborn population screening for rare inherited health conditions and is nearly 3 times that at age 18 years. We are proposing that research directed at accelerating cancer diagnosis for children by focussing upon feasibility and acceptability of linking targeted surveillance with population screening for all childhood cancers. This would be supported by enhanced public and professional awareness of a child’s risks of cancer and the range of clinical presentations. We suggest this must now be a top priority for research because of the potential for improving outcomes for treatment of all types of cancer and reducing the burden of disability and late effects of therapy.
呼吁开展儿童癌症早期检测研究的综述:人群筛查和监测的临床、科学和经济论据
越来越多的人认识到,儿童癌症是一种从生命早期到成年期的组织生长和发育障碍。目前,越来越多的儿童癌症被认为与家族遗传倾向有关,或与已发现的易感基因突变有关。这些疾病对生命构成威胁,确诊时有可能导致严重残疾,需要复杂的救生疗法,因此成为研究的重点。全球卫生系统在早期诊断儿童癌症方面进展不足,这意味着这些癌症的临床表现要么被完全遗漏,要么构成高风险急症。过去十年来,由于针对预后和治疗创新方法的研究技术不断扩展,人们对肿瘤生物学的认识有了显著提高。但是,将这些知识应用于在肿瘤发生的早期阶段对儿童癌症进行诊断的协调一致的研究计划还没有发展起来。儿童在 5 岁前罹患癌症的风险与新生儿罕见遗传性疾病筛查所选疾病的风险相当,是 18 岁时的近 3 倍。我们建议开展旨在加快儿童癌症诊断的研究,重点关注将目标监测与所有儿童癌症的人群筛查联系起来的可行性和可接受性。这将得到公众和专业人士对儿童患癌风险和各种临床表现的进一步认识的支持。我们建议现在必须将此作为研究的重中之重,因为这有可能改善所有类型癌症的治疗效果,减轻残疾负担和治疗的后期影响。
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