The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, Ohio, USA.
Curr Opin Pediatr. 2024 Feb 1;36(1):71-77. doi: 10.1097/MOP.0000000000001311. Epub 2023 Nov 16.
The application of technology and computational analyses to generate new data types from pediatric solid cancers is transforming diagnostic accuracy. This review provides an overview of such new capabilities in the pursuit of improved treatment for essentially rare and underserved diseases that are the highest cause of mortality in children over one year of age. Sophisticated ways of identifying therapeutic vulnerabilities for highly personalized treatment are presented alongside cutting-edge disease response monitoring by liquid biopsy.
Precision molecular profiling data are now being combined with conventional pathology-based evaluation of pediatric cancer tissues. The resulting diagnostic information can be used to guide therapeutic decision-making, including the use of small molecule inhibitors and of immunotherapies. Integrating somatic and germline variant profiles constitutes a critical component of this emerging paradigm, as does tissue-of-origin derivation from methylation profiling, and rapid screening of potential therapies. These new approaches are poised for use in disease response and therapy resistance monitoring.
The integration of clinical molecular profiling data with pathology can provide a highly precise diagnosis, identify therapeutic vulnerabilities, and monitor patient responses, providing next steps toward precision oncology for improved outcomes, including reducing lifelong treatment-related sequelae.
将技术和计算分析应用于儿科实体瘤，以生成新的数据类型，正在提高诊断的准确性。本文综述了这些新技术的应用，旨在改善本质上罕见且服务不足的疾病的治疗，这些疾病是 1 岁以上儿童死亡的主要原因。本文还介绍了通过液体活检进行先进的疾病反应监测，以及用于高度个性化治疗的治疗脆弱性识别的复杂方法。
目前正在将精确的分子分析数据与基于常规病理学的儿科癌症组织评估相结合。由此产生的诊断信息可用于指导治疗决策，包括小分子抑制剂和免疫疗法的使用。整合体细胞和种系变异谱是这一新兴范例的关键组成部分，起源于甲基化分析的组织和潜在治疗方法的快速筛选也是如此。这些新方法有望用于疾病反应和治疗耐药性监测。
将临床分子分析数据与病理学相结合，可以提供高度精确的诊断，识别治疗弱点，并监测患者的反应，为改善预后的精准肿瘤学提供了下一步措施，包括减少终身治疗相关的后遗症。
