C16190: Identification and testing of novel methylated markers that distinguish between primary diffuse large B-cell lymphoma of the central nervous system (DBCL-CNS) and other tumors of the CNS
Inventors: Saraswati Sukumar, Bradley Downs, Wanjun Ding
Unmet Need
Globally, approximately 300,000 brain cancers are diagnosed each year, which results in about 227,000 deaths (Lancet Neurology). Primary central nervous system B-cell lymphomas (PCNSL) are an aggressive and rare disease, which can involve brain, eye or leptomeninges without evidence of systemic disease (Low, S. et al. 2018). A surgical biopsy of brain tissue is the current gold standard for the diagnosis of central nervous system lymphoma from other forms of brain cancer. This invasive procedure has a high-complication rate of 8.5%, with adverse events consisting of hematomas, seizures or brain edema, and even the occurrence of biopsy‐related mortality in 1% of cases (Khatab, S. et al. 2014). Therefore, there is a strong need to identify reliable biomarkers and establish a companion diagnostic test that can differentiate PCNSL from other brain tumors in a non-invasive manner, while maintaining high-accuracy and shortening the time to diagnosis.
Technology Overview
Johns Hopkins researchers have identified new molecular biomarkers to distinguish Primary Central Nervous System Lymphomas from other types of brain tumors and have developed a novel methylation-specific diagnostic assay to measure methylated DNA with high-accuracy. The inventor’s further aim to validate the markers and companion diagnostic test in a non-invasive setting, which would eliminate the detrimental risks introduced during a surgically-invasive brain tissue biopsy.
Stage of Development
Experimental data is available.
Publications
Manuscript in preparation.