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Cell-free tumor DNA in cerebral spinal fluid decodes tumors of the central nervous system

脑脊液中的游离肿瘤DNA解码中枢神经系统肿瘤

基本信息

批准号：
9324707
负责人：
Melanie Hayden Gephart
金额：
$ 19.98万
依托单位：
STANFORD UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2015
资助国家：
美国
起止时间：
2015-06-12 至 2018-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9324707
关键词：
Animal Disease Models Award Biopsy Blood Brain Neoplasms Bypass Cells Central Nervous System Neoplasms Cerebrospinal Fluid Characteristics Clinical Clinical Research Cytology DNA Sequence Alteration DNA sequencing Data Detection Development Diagnosis Diagnostic Disease Disease Progression Equipment Fingerprint Gene Dosage Genes Genetic Genetic Fingerprintings Genetic Markers Genetic study Glioma Information Resources MGMT gene Malignant - descriptor Malignant Neoplasms Metastatic Neoplasm to the Leptomeninges Metastatic malignant neoplasm to brain Metastatic to Methods Microfluidic Microchips Microfluidics Modification Monitor Mutation Mutation Detection Neoplasm Metastasis Neoplasms Neuraxis Oncologist Outcome Patients Plasma Primary Brain Neoplasms Primary Neoplasm Relapse Research Scientist Techniques Technology Time Tissues Tumor Biology Tumor Markers Tumor Subtype Variant anticancer research cell free DNA digital disease diagnosis exome sequencing genetic resource innovation insight medulloblastoma minimally invasive molecular subtypes neoplastic cell novel outcome forecast prospective public health relevance response technology development tool tumor tumor DNA tumor progression

项目摘要

DESCRIPTION (provided by applicant): We are developing an innovative, minimally invasive method to study the genetic spectrum of tumors metastatic and primary to the central nervous system (CNS). Cell free DNA (cfDNA) acts as a tumor fingerprint, allowing detection of genetic alterations that mark the variation and progression of disease. As a clinical tool, it may supplant the currently available and relatively insensitive methods of brain tumor diagnosis. As a scientific tool, novel tumor cfDNA mutations identified in CSF will allow for great insight into tumor biology, and more faithful animal modeling of these diseases. Specific Aim 1: Develop novel microfluidic chips to isolate and characterize cfDNA within the CSF of patients with primary and metastatic brain tumors. Specific Aim 2: Refine new sequencing techniques to characterize tumor cfDNA in CSF from patients with CNS tumors. Determine the feasibility of supplanting cytology with tumor cfDNA sequencing in the diagnosis of leptomeningeal metastasis. Specific Aim 3: Subtype primary brain tumors through the development of single-gene copy number variation sequencing of cfDNA in CSF. Summary: cfDNA in CSF from brain tumors shows great promise to track cancer's mutation profile, diagnose disease, and inform treatment. The techniques accelerated here may revolutionize the recognition of leptomeningeal metastases, and deepen our scientific understanding of brain tumor progression.