Gene marker panel for detection of pcnsl based on cerebrospinal fluid ctDNA
By using the N8-RF-PCNSL gene biomarker panel based on cerebrospinal fluid ctDNA, combined with targeted capture sequencing and machine learning models, the problems of insufficient sensitivity and high invasiveness in traditional diagnostic methods have been solved, enabling accurate diagnosis and prognostic assessment of PCNSL and reducing the risk of missed diagnosis and misdiagnosis.
CN122303433APending Publication Date: 2026-06-30BEIJING NEUROSURGICAL INST
Patent Information
- Authority / Receiving Office
- CN · China
- Patent Type
- Applications(China)
- Current Assignee / Owner
- BEIJING NEUROSURGICAL INST
- Filing Date
- 2026-05-28
- Publication Date
- 2026-06-30
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Figure CN122303433A_ABST
Abstract
This invention discloses a gene biomarker panel for detecting PCNSL based on cerebrospinal fluid (cerebrospinal fluid) ctDNA, relating to the fields of gene detection and molecular diagnostics. The gene biomarker panel includes MYD88, PIM1, CD79B, GNA13, IRF4, DTX1, KMT2D, and B2M. By detecting the mutation status of these genes in a subject's cerebrospinal fluid sample, the mutation status is input into a trained random forest classification model to generate auxiliary judgment results, providing molecular evidence for diagnosing PCNSL in the subject. This eight-gene combination panel has shown high diagnostic specificity in multiple cerebrospinal fluid ctDNA-based validation cohorts and has the ability to identify MYD88 wild-type PCNSL.
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