Johns Hopkins MedicineInvestigators Devise Novel Test to Identify Brain Tumors from Cerebrospinal Fluid

Revolutionary Real-CSF Test: A Leap Towards Precision Diagnosis in Brain Tumor Management

In a significant advancement for the diagnosis and management of brain tumors, a collaborative effort by researchers from the Johns Hopkins Kimmel Cancer Center, the Johns Hopkins School of Medicine, and four other institutions has led to the development of a groundbreaking molecular test. Published on August 15 in Cell Reports Medicine, the Real-CSF test identifies brain tumors by detecting abnormal genetic material in the cerebrospinal fluid (CSF), offering a novel, less invasive method that complements traditional MRI imaging and biopsies. This innovation not only promises to improve diagnostic accuracy but also paves the way for personalized treatment approaches.

Key Points:

• The Real-CSF test, based on repetitive element aneuploidy sequencing in CSF, assesses chromosome copy number alterations across more than 350,000 genomic regions, utilizing a companion bioinformatics algorithm and machine learning.
• In a study evaluating 280 CSF samples from patients with and without brain or other cancers, Real-CSF demonstrated a 67% accuracy rate in identifying cancerous brain lesions and a 96% accuracy rate for non-cancerous lesions.
• Compared to the standard cytology, which detected 23% of cancers in a subgroup of 121 patients, Real-CSF’s detection rate was significantly higher at 69%.
• Chetan Bettegowda, MD, PhD, highlights the test’s simplicity, effectiveness even with a limited amount of CSF, and cost-efficiency as major advantages over existing liquid biopsy methods.
• Future directions include enhancing test performance by integrating analysis of gene mutations and cancer-specific DNA changes.

“The test is very simple to use, works even on a limited amount of CSF and is inexpensive relative to many of the other liquid biopsy approaches on the market. With those characteristics, we were quite pleased that we had such a robust performance.”
– Chetan Bettegowda, MD, PhD, the Jennison and Novak Families Professor of Neurosurgery and a Professor of Oncology at the Johns Hopkins University School of Medicine

More on Brain Tumors