Application of Circulating Tumor DNA in the Auxiliary Diagnosis and Prognosis Prediction of Glioma

Abstract

Glioma is the most common primary malignant brain tumor. Despite significant advances in the past decade in understanding the molecular pathogenesis of this tumor and exploring therapeutic strategies, the prognosis of patients with glioma remains poor. Accurate diagnosis of glioma is very important for the treatment and prognosis. Although the gold-standard method for the diagnosis and prognosis prediction of patients with glioma is tissue biopsy, it still has many limitations. Liquid biopsy can provide information on the auxiliary diagnosis and prognosis of gliomas. In this review, we summarized the application of cell-free DNA (cfDNA) and circulating tumor DNA (ctDNA) in the auxiliary diagnosis and prognosis of glioma. The common methods used to detect ctDNA in gliomas using samples including blood and cerebrospinal fluid (CSF) and the detection techniques for ctDNA, including droplet digital PCR (ddPCR) and next-generation sequencing (NGS), were discussed. Detection of ctDNA from plasma of patients with brain tumors remains challenging because of the blood-brain barrier (BBB). CSF has been proposed as a medium for ctDNA analysis in brain tumors, and mutation detection using plasma ctDNA was less sensitive than CSF ctDNA sequencing. Moreover, ongoing relevant clinical studies were summarized. Finally, we discussed the challenges, and future directions for the studies on ctDNA in glioma.

Keywords: Auxiliary diagnosis; CtDNA; Glioma; Next-generation sequencing; Prognosis.

Fig. 1

Application of ctDNA in gliomas (By Figdraw). ctDNA, circulating tumor DNA

Fig. 2

Capabilities and shortcomings of cfDNA/ctDNA detection based on blood and CSF samples (By Figdraw). cfDNA, cell-free DNA. ctDNA, circulating tumor DNA. CSF, cerebrospinal fluid