5. Detecting mutations in cerebrospinal fluid: liquid biopsy for diagnosis of central nervous system metastases

There is a critical need for better methodologies to diagnose and monitor patients with central nervous system (CNS) tumors. The use of circulating tumor DNA (ctDNA) is a promising tool for evaluating patients with primary or metastatic CNS tumors. Cerebrospinal fluid (CSF) is more suitable to detect ctDNA from CNS cancers than plasma, due to the effects of blood-brain barrier. The current techniques for diagnosing CNS tumors include imaging, CSF-cytology and biopsies. Imaging and CSF-cytology have poor specificity and sensitivity, respectively, and biopsies are invasive.

Source: Cancer Genetics and Cytogenetics - March 31, 2019 Category: Genetics & Stem Cells Authors: Mauli Shah, Soheil Zorofchian, Chieh Lan, Dzifa Duose, Peter Hu, Yoshua Esquenazi, Rajyalakshmi Luthra, Leomar Y. Ballester Source Type: research