Genomic testing can inform the diagnosis and personalise management of cancers in children, adolescents, and young adults (CAYA). This scoping review explored the clinical utility and impact of genomic testing in general CAYA cancer cohorts. Relevant records published in English between 2017-2024 were identified by searching PubMed. 36 studies (32 original articles; 4 reviews) were identified on genomic testing in CAYA cancers, most of which were advanced cancers. Studies internationally reported that approximately 16-18% of CAYAs with cancer carry an associated pathogenic germline variant where 40% are de-novo, and can guide treatment (eg, DNA repair gene variants). Somatic variants, predominantly copy number or structural rearrangements, inform diagnosis in up to 95% of primary cancers. Between 18-69% of patients have a somatic variant with a matched therapy, but only one third receive the genomic-guided recommendation, predominantly due to declining patient condition. Few studies evaluated the impact of matched therapies on response and survival. Combining comprehensive DNA and RNA sequencing maximises sensitivity. Circulating tumour DNA was detected in most primary cancers and shows high concordance with tumour tissue. In conclusion, genomic testing of CAYA cancers is feasible, informs diagnoses and guides personalised care. Further research is needed on response to genomic-guided treatments.

中文翻译：

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基因组检测在患有癌症的儿童、青少年和年轻人中的效用


基因组检测可以为儿童、青少年和年轻人的癌症诊断和个性化管理提供信息 (CAYA)。本次范围审查探讨了基因组测试在一般 CAYA 癌症队列中的临床效用和影响。通过搜索 PubMed 找到了 2017 年至 2024 年期间以英文发表的相关记录。 36 项研究（32 篇原创文章；4 篇评论）被确定为 CAYA 癌症基因组检测，其中大多数是晚期癌症。国际研究报告称，大约 16-18% 的癌症 CAYA 携带相关致病性种系变异，其中 40% 是从头变异，并且可以指导治疗（例如 DNA 修复基因变异）。体细胞变异（主要是拷贝数或结构重排）可为高达 95% 的原发性癌症提供诊断依据。 18-69% 的患者存在体细胞变异，需要进行匹配的治疗，但只有三分之一接受基因组指导的建议，这主要是由于患者病情恶化。很少有研究评估匹配疗法对反应和生存的影响。结合全面的 DNA 和 RNA 测序可最大限度地提高灵敏度。在大多数原发性癌症中检测到循环肿瘤 DNA，并与肿瘤组织表现出高度一致性。总之，CAYA 癌症的基因组检测是可行的，可以为诊断提供信息并指导个性化护理。需要进一步研究对基因组引导治疗的反应。