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US 2025/0027167 A1Published application
Detection of tumor-derived dna in cerebrospinal fluid
AssigneeThe Johns Hopkins University
InventorsChetan Bettegowda, Kenneth W. Kinzler, Bert Vogelstein, Yuxuan Wang, Luis Diaz, Nickolas Papadopoulos
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Abstract
As cell-free DNA from brain and spinal cord tumors cannot usually be detected in the blood, we assessed the cerebrospinal fluid (CSF) that bathes the CNS for tumor DNA, here termed CSF-tDNA. The results suggest that CSF-tDNA could be useful for the management of patients with primary tumors of the brain or spinal cord.
Claims16
(canceled)
A method comprising:
- a) receiving a Cerebral Spinal Fluid (CSF) sample from a human with a primary brain tumor, wherein said primary brain tumor is a glioma, a medulloblastoma, or an ependymoma and has been determined by imaging to abut a CSF reservoir, wherein the CSF reservoir is a ventricular reservoir or a basal cistern;
- b) assaying tumor-specific DNA shed from said primary brain tumor in said CSF sample and determining the presence of one or more point mutations in said tumor-specific DNA;
- and
- c) assaying nucleic acids from a normal tissue from the human and determining absence of the one or more point mutations determined to be present in said tumor-specific DNA;
- wherein the one or more point mutations are present in one or more of TP53, IDH1, NF2, PIK3R1, PTCH1, and PTEN.
2 more elements
Dependencies are inferred from the claim text.