Cell-free circulating tumor DNA (ctDNA) in plasma has been shown to be informative of the genomic alterations present in tumors and has been used to monitor tumor progression and response to treatments.
However, patients with brain tumors do not present with or present with low amounts of ctDNA in plasma precluding the genomic characterization of brain cancer through plasma ctDNA.
Investigators in the journal Nature Communications demonstrate that ctDNA derived from central nervous system tumors is more abundantly present in the cerebrospinal fluid (CSF) than in plasma.
Massively parallel sequencing of CSF ctDNA more comprehensively characterizes the genomic alterations of brain tumors than plasma, allowing the identification of actionable brain tumor somatic mutations.
They show that CSF ctDNA levels longitudinally fluctuate in time and follow the changes in brain tumor burden providing biomarkers to monitor brain malignancies. Moreover, CSF ctDNA is shown to facilitate and complement the diagnosis of leptomeningeal carcinomatosis.
http://www.nature.com/ncomms/2015/151110/ncomms9839/full/ncomms9839.html
Cerebrospinal fluid-derived circulating tumor DNA better represents the genomic alterations of brain tumors than plasma
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