Investigators devise test to identify brain tumors from cerebrospinal fluid
Researchers with the Johns Hopkins Kimmel Cancer Center, the Johns Hopkins University School of Medicine and four other institutions have developed a molecular test to identify the presence of brain tumors by measuring abnormal genetic material shed by tumors and circulating in cerebrospinal fluid (CSF). A description of the work was published Aug. 15 in the journal Cell Reports Medicine.
Typically, brain tumors are assessed through MRI imaging and biopsies. The novel test, called Real-CSF (repetitive element aneuploidy sequencing in CSF), assesses aneuploidy (chromosome copy number alterations found in cancers) in over 350,000 regions of the genome simultaneously. A companion bioinformatics algorithm and machine-learning process allows researchers to identify in as little as 2 milliliters of CSF if cancers are present and what molecular characteristics they demonstrate.
In laboratory evaluations of the test in 280 CSF samples from patients, some with brain or other cancers and some without cancer, Real-CSF correctly identified 67% of 184 cancerous brain lesions and 96% of 96 noncancerous lesions. This analysis was more likely to correctly identify cancers than the standard of care, cytology. Of 121 patients with cancer in whom cytology results were available, only 28 (23%) were detected by cytology, whereas Real-CSF correctly detected 69% of cancers in this group.