Greuter Ladina, Frank Nicole, Guzman Raphael, Soleman Jehuda
Department of Neurosurgery, University Hospital of Basel, 4031 Basel, Switzerland.
Department of Neurosurgery and Pediatric Neurosurgery, University Hospital of Basel and Children's Hospital, 4056 Basel, Switzerland.
Cancers (Basel). 2022 May 28;14(11):2683. doi: 10.3390/cancers14112683.
Pediatric brain tumors are the most common solid tumor in children. Traditionally, tumor diagnosis and molecular analysis were carried out on tumor tissue harvested either via biopsy or resection. However, liquid biopsy allows analysis of circulating tumor DNA in corporeal fluids such as cerebrospinal fluid or blood.
We performed a systematic review in Pubmed and Embase regarding the role of liquid biopsy in pediatric brain tumors.
Nine studies with a total of 570 patients were included. The preferred corporeal fluid for analysis with a relatively high yield of ct-DNA was cerebrospinal fluid (CSF). For high-grade glioma, liquid biopsy can successfully characterize H3K27mutations and predict tumor progression before it is radiographically detected. Moreover, liquid biopsy has the potential to distinguish between pseudo-progression and actual progression. In medulloblastoma, ct-DNA in the CSF can be used as a surrogate marker of measurable residual disease and correlates with response to therapy and progression of the tumor up to three months before radiographic detection.
Liquid biopsy is primarily useful in high-grade pediatric brain tumors such as diffuse midline glioma or medulloblastoma. Disease detection and monitoring is feasible for both tumor entities. More trials to standardize its use for pediatric brain tumors are necessary.
小儿脑肿瘤是儿童最常见的实体瘤。传统上，肿瘤诊断和分子分析是在通过活检或切除获取的肿瘤组织上进行的。然而，液体活检可以分析诸如脑脊液或血液等体液中的循环肿瘤DNA。
我们在PubMed和Embase上对液体活检在小儿脑肿瘤中的作用进行了系统综述。
纳入了9项研究，共570例患者。用于分析且ct-DNA产量相对较高的首选体液是脑脊液（CSF）。对于高级别胶质瘤，液体活检可以成功鉴定H3K27突变，并在影像学检测到肿瘤进展之前预测肿瘤进展。此外，液体活检有潜力区分假性进展和实际进展。在髓母细胞瘤中，脑脊液中的ct-DNA可作为可测量残留疾病的替代标志物，并与治疗反应以及影像学检测前长达三个月的肿瘤进展相关。
液体活检主要对高级别小儿脑肿瘤如弥漫性中线胶质瘤或髓母细胞瘤有用。对这两种肿瘤实体进行疾病检测和监测都是可行的。需要更多试验来规范其在小儿脑肿瘤中的应用。
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