{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["Pearlman AH"],"funding":["NCATS NIH HHS","NIAID NIH HHS","NCI NIH HHS","NIAMS NIH HHS","NIGMS NIH HHS"],"pubmed_abstract":["Patients with radiographically detectable lesions in their brain or other symptoms compatible with brain tumors pose challenges for diagnosis. The only definitive way to diagnose such patients is through brain biopsy, an invasive and dangerous procedure. Here we present a new workflow termed \"CSF-BAM\" that simultaneously identifies B cell or T cell receptor sequences, Aneuploidy, and Mutations using amplification of both strands of the DNA from cerebrospinal fluid (CSF) samples. We applied CSF-BAM to a validation set of 209 samples from patients with brain cancers. Among the 129 samples from patients with the most common aggressive cancer types, the sensitivity of detection was 81%. None of 30 CSF-BAM assays were positive in CSF samples from patients without brain cancers (100% specificity"],"journal":["Cancer discovery"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12380150"],"repository":["biostudies-literature"],"pubmed_title":["Detection of human brain cancers using genomic and immune cell characterization of cerebrospinal fluid through CSF-BAM."],"pmcid":["PMC12380150"],"funding_grant_id":["R01 CA276221","P30 CA006973","U01 CA230691","R21 AI176764","T32 AR048522","K08 CA270403","R21 TR004059","R37 CA230400","T32 GM136577"],"pubmed_authors":["Schreck KC","Naidoo J","Pearlman AH","Kinzler KW","Douville C","Konig MF","Judge K","Cohen JD","Jallo GI","Rincon-Torroella J","Paul S","Mukherjee D","Dobbyn L","Parker M","Weingart J","Holdhoff M","Alfonzo Horowitz M","Popoli M","Dudley J","Luciano M","Wang Y","Rozati S","Calabresi PA","Groves M","Sterling CH","Xia Y","Papadopoulos N","Kamson D","Bettegowda C","Pardo CA","Kalluri A","Ptak J","Silliman N","Jackson CM","Mansouri A","Gensler R","Jackson EM","Koschmann C","Vogelstein B","Theodore JN","Glantz M","Lim M"],"additional_accession":[]},"is_claimable":false,"name":"Detection of human brain cancers using genomic and immune cell characterization of cerebrospinal fluid through CSF-BAM.","description":"Patients with radiographically detectable lesions in their brain or other symptoms compatible with brain tumors pose challenges for diagnosis. The only definitive way to diagnose such patients is through brain biopsy, an invasive and dangerous procedure. Here we present a new workflow termed \"CSF-BAM\" that simultaneously identifies B cell or T cell receptor sequences, Aneuploidy, and Mutations using amplification of both strands of the DNA from cerebrospinal fluid (CSF) samples. We applied CSF-BAM to a validation set of 209 samples from patients with brain cancers. Among the 129 samples from patients with the most common aggressive cancer types, the sensitivity of detection was 81%. None of 30 CSF-BAM assays were positive in CSF samples from patients without brain cancers (100% specificity","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-06-01T11:33:49.508Z","creation":"2026-04-08T11:59:45.488Z"},"accession":"S-EPMC12380150","cross_references":{"pubmed":["40854146"],"doi":["10.1158/2159-8290.CD-24-1788","10.1158/2159-8290.cd-24-1788"]}}