Presenters:
Chetan Bettegowda MD/PhD
Matthias Holdhoff MD/PhD
There is a paucity of molecular biomarkers for central nervous system tumors. Therefore, current practice relies heavily on clinical findings and imaging for decision making. The mainstay of diagnosis remains neurosurgical biopsy which has inherent risks, the need for hospitalization and significant cost. CSF cytology, the most commonly used CNS biomarker suffers from poor sensitivity and the inability to provide molecular information. Querying ancillary biofluids such as plasma and CSF for tumor derived material, also known as liquid biopsy, provides opportunities to interrogate the tumor without the need for invasive tissue sampling. Liquid biopsies can also provide important molecular data that can inform diagnosis and treatment decisions.
In this session, data and potential clinical applications for liquid biopsies in CNS tumors will be reviewed. The discussion will focus on tumor derived DNA in CSF and the role in diagnosis and disease monitoring. The burgeoning role for multi-analyte tests will be reviewed including those capable of providing data in chromosomal copy number changes, mutations and methylation. The performance of these multi-analyte approaches will be reviewed in the context of brain metastases and primary brain tumors. Clinical scenarios discussing applications of these technologies will presented.
