Tripathy Arushi, John Vishal, Wadden Jack, Kong Seongbae, Sharba Sana, Koschmann Carl
Department of Neurosurgery, Michigan Medicine, Ann Arbor, MI, United States.
Department of Pediatrics, Michigan Medicine, Ann Arbor, MI, United States.
Front Genet. 2023 Jan 6;13:1114762. doi: 10.3389/fgene.2022.1114762. eCollection 2022.
Malignant primary brain tumors are the most common cancer in children aged 0-14 years, and are the most common cause of death among pediatric cancer patients. Compared to other cancers, pediatric brain tumors have been difficult to diagnose and study given the high risk of intracranial biopsy penetrating through vital midline structures, where the majority of pediatric brain tumors originate (Ostrom et al., 2015). Furthermore, the vast majority of these tumors recur. With limitations in the ability to monitor using clinical and radiographic methods alone, minimally invasive methods such as liquid biopsy will be crucial to our understanding and treatment. Liquid biopsy of blood, urine, and cerebrospinal fluid (CSF) can be used to sample cfDNA, ctDNA, RNA, extracellular vesicles, and tumor-associated proteins. In the past year, four seminal papers have made significant advances in the use of liquid biopsy in pediatric brain tumor patients (Liu et al., 2021; Cantor et al., 2022; Miller et al., 2022; Pagès et al., 2022). In this review, we integrate the results of these studies and others to discuss how the newest technologies in liquid biopsy are being developed for molecular diagnosis and treatment response in pediatric brain tumors.
恶性原发性脑肿瘤是0至14岁儿童中最常见的癌症,也是儿科癌症患者最常见的死亡原因。与其他癌症相比,由于颅内活检穿透大多数儿科脑肿瘤起源的重要中线结构(Ostrom等人,2015年)的风险很高,儿科脑肿瘤一直难以诊断和研究。此外,这些肿瘤绝大多数会复发。仅靠临床和影像学方法进行监测存在局限性,液体活检等微创方法对于我们的理解和治疗至关重要。血液、尿液和脑脊液(CSF)的液体活检可用于对游离DNA(cfDNA)、循环肿瘤DNA(ctDNA)、RNA、细胞外囊泡和肿瘤相关蛋白进行采样。在过去一年中,四篇具有开创性的论文在儿科脑肿瘤患者液体活检的应用方面取得了重大进展(Liu等人,2021年;Cantor等人,2022年;Miller等人,2022年;Pagès等人,2022年)。在本综述中,我们整合了这些研究及其他研究的结果,以讨论液体活检的最新技术如何用于儿科脑肿瘤的分子诊断和治疗反应。