| Biomarker | MIF | Full name | Macrophage Migration Inhibitory Factor | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Monitoring, Prognosis |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue/Cerebrospinal Fluid (ELISA, Western Blot) | ||
| Pathobiological Mechanisms | Activates the NF-κB pathway, promotes microglial activation, angiogenesis, and immunosuppression, enhancing tumor invasion. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | The MIF inhibitor ISO-1 can inhibit GBM cell proliferation, and combined with TMZ can improve chemotherapy efficacy. | ||||
| Biomarker | BRAF V600E Mut | Full name | BRAF V600E Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prediction |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue/Plasma (NGS, ARMS-PCR) | ||
| Pathobiological Mechanisms | Activates the MAPK/ERK signaling pathway, driving tumor cell proliferation and angiogenesis. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Dabrafenib combined with trametinib (BRAF+MEK inhibitors) has an objective response rate of 27% in GBM patients with BRAF V600E mutation in clinical trials. | ||||
| Biomarker | TERT Promoter Mut | Full name | TERT Promoter Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis, Diagnosis |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue (NGS, Pyrosequencing) | ||
| Pathobiological Mechanisms | Promoter mutations enhance telomerase activity, maintaining the unlimited proliferation capacity of tumor cells. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | The mutation rate exceeds 70% in primary GBM, associated with poor prognosis in IDH wild-type GBM. | ||||
| Biomarker | PTEN Mut | Full name | PTEN Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis, Prediction |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue (NGS, Sanger Sequencing) | ||
| Pathobiological Mechanisms | Tumor suppressor gene inactivation activates the PI3K/AKT/mTOR pathway, enhancing tumor invasiveness and chemotherapy resistance. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Mutant patients are sensitive to mTOR inhibitors (everolimus), which can reverse partial chemotherapy resistance. | ||||
| Biomarker | EGFR Amp/EGFRvIII Mut | Full name | EGFR Amplification/EGFRvIII Mutation | Molecular Type | Gene Mutation/Amplification |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prediction, Prognosis |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue/Plasma (FISH, NGS, IHC) | ||
| Pathobiological Mechanisms | EGFR amplification activates the PI3K/AKT pathway; EGFRvIII mutation leads to sustained receptor activation, both promoting tumor proliferation, invasion, and treatment resistance. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | EGFR inhibitors (cetuximab) combined with TMZ show synergistic efficacy in EGFR-amplified patients; EGFRvIII-positive patients are more sensitive to immunotherapy. | ||||
| Biomarker | 1p/19q Co-Deletion | Full name | 1p/19q Co-Deletion | Molecular Type | Chromosomal Abnormality |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue (Fluorescence In Situ Hybridization FISH, Comparative Genomic Hybridization CGH) | ||
| Pathobiological Mechanisms | Deletion of fragments on the short arm of chromosome 1 and long arm of chromosome 19 is associated with oligodendrocyte differentiation, rare in GBM but indicating higher tumor differentiation. | ||||
| Clinical Availability Status | Under clinical validation | ||||
| Notes and Dynamics | Mainly seen in oligodendrogliomas; GBM patients with this deletion are significantly more sensitive to radiotherapy and chemotherapy than those without, with a 10%-15% increase in 5-year survival rate. | ||||
| Biomarker | MGMT Promoter Meth | Full name | MGMT Promoter Methylation | Molecular Type | DNA Methylation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prediction, Prognosis |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue (Methylation-Specific PCR, Pyrosequencing, NGS) | ||
| Pathobiological Mechanisms | Methylation in the promoter region silences the MGMT gene, reduces O6-methylguanine DNA repair, and enhances temozolomide (TMZ) chemotherapy sensitivity. | ||||
| Clinical Availability Status | Clinically available | ||||
| Notes and Dynamics | The response rate to TMZ treatment is increased by 30%-50% in methylation-positive patients, and the median survival is extended to 15-18 months, a core basis for formulating clinical chemotherapy regimens. | ||||
| Biomarker | IDH1/2 Mut | Full name | IDH1/2 Mutation | Molecular Type | Gene Mutation |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Prognosis, Risk Stratification |
| Disease(or Constitution) | Glioblastoma | Disease Subtypes | Primary GBM, Secondary GBM | ||
| Organ | Brain | Test Sample / Technology Platform | Tumor Tissue/Plasma (NGS, Sanger Sequencing, Digital PCR) | ||
| Pathobiological Mechanisms | Mutations encoding isocitrate dehydrogenase lead to accumulation of 2-hydroxyglutarate (2-HG), inhibit histone demethylase activity, block cell differentiation, and drive tumorigenesis. | ||||
| Clinical Availability Status | Clinically available | ||||
| Notes and Dynamics | Wild-type GBM accounts for more than 90% of primary GBM with extremely poor prognosis; mutant-type is mostly secondary GBM, which can be used as a potential target for 2-HG-targeted drugs. | ||||
| Biomarker | FRZB | Full name | Frizzled-Related Protein (Wnt Antagonist) | Molecular Type | Protein (Wnt Antagonist) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Disease Monitoring |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/Skeletal Muscle (ELISA, Immunohistochemistry) | ||
| Pathobiological Mechanisms | Secreted increased after muscle denervation, inhibits the Wnt pathway, affecting muscle regeneration. | ||||
| Clinical Availability Status | Research exploration stage | ||||
| Notes and Dynamics | Positively correlated with the degree of myofiber atrophy; oral probiotics can downregulate FRZB levels and improve muscle function. | ||||
| Biomarker | [18F]-FDG (PET) | Full name | [18F]-FDG (PET Imaging) | Molecular Type | Imaging Biomarker |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Diagnosis |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | Brain (PET Imaging) | ||
| Pathobiological Mechanisms | Reflects intracerebral glucose metabolism; decreased metabolism in the motor cortex and prefrontal lobe indicates abnormal neuronal function. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | [18F]-FDG uptake in the motor cortex of ALS patients is 25% lower than in healthy individuals, negatively correlated with NfL levels; distinguishes ALS from FTD (accuracy 82%). | ||||
| Biomarker | sTREM2 | Full name | Soluble TREM2 | Molecular Type | Protein (Receptor Fragment) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (SIMOA, ELISA) | ||
| Pathobiological Mechanisms | Released after microglial activation, involved in phagocytosis regulation, reflecting the degree of neuroinflammation. | ||||
| Clinical Availability Status | Research exploration stage | ||||
| Notes and Dynamics | CSF sTREM2 levels are positively correlated with YKL-40; levels in C9orf72 mutant patients are significantly higher than in sporadic ALS. | ||||
| Biomarker | IL-6 | Full name | Interleukin-6 | Molecular Type | Protein (Cytokine) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Prognosis |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Serum (ELISA, Luminex) | ||
| Pathobiological Mechanisms | Secreted by activated microglia, activates the JAK-STAT pathway, promoting neuronal apoptosis. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | Serum IL-6 levels in ALS patients with depression are positively correlated with HAMD scores; anti-IL-6 drugs (tocilizumab) can reduce IL-6 levels in the brains of model mice. | ||||
| Biomarker | Truncated STMN2 | Full name | Truncated Stathmin-2 (STMN2) | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Diagnosis |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | CSF (Western Blot, IP-MS) | ||
| Pathobiological Mechanisms | TDP-43 aggregation inhibits normal splicing of STMN2, producing truncated proteins that interfere with microtubule function. | ||||
| Clinical Availability Status | Research exploration stage | ||||
| Notes and Dynamics | Truncated STMN2 can be detected in CSF of 90% of ALS patients, positively correlated with TDP-43 aggregation; a potential efficacy biomarker for TDP-43 targeted therapy. | ||||
| Biomarker | GFAP | Full name | Glial Fibrillary Acidic Protein | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Pathological Confirmation, Subtype Differentiation |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | CSF/Plasma (SIMOA, Immunoassay) | ||
| Pathobiological Mechanisms | Released after astrocyte activation, involved in blood-brain barrier maintenance and neuroinflammation regulation. | ||||
| Clinical Availability Status | Research validation stage | ||||
| Notes and Dynamics | Plasma GFAP levels in C9orf72 mutant ALS patients are 35% higher than in sporadic ALS, positively correlated with the degree of astrocyte activation in the brain; can assist in distinguishing ALS from Frontotemporal Dementia (FTD). | ||||
| Biomarker | miR-206 | Full name | MicroRNA-206 | Molecular Type | Non-coding RNA (microRNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Disease Monitoring |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | Plasma/Skeletal Muscle (qPCR, RNA-seq) | ||
| Pathobiological Mechanisms | Regulates myocyte differentiation and neuromuscular junction (NMJ) repair; expression is elevated in ALS to compensate for muscle denervation. | ||||
| Clinical Availability Status | Research stage | ||||
| Notes and Dynamics | miR-206 levels in skeletal muscle are negatively correlated with the degree of myofiber atrophy; supplementation of miR-206 can improve NMJ function in SOD1 G93A mouse models. | ||||
| Biomarker | NLR | Full name | Neutrophil-Lymphocyte Ratio | Molecular Type | Cell Ratio |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis, Inflammation Assessment |
| Disease(or Constitution) | Amyotrophic Lateral Sclerosis | Disease Subtypes | Sporadic ALS, Familial ALS | ||
| Organ | Brain | Test Sample / Technology Platform | Whole Blood (Hematology Analyzer) | ||
| Pathobiological Mechanisms | Enhanced systemic inflammatory response, increased neutrophils (pro-inflammatory), decreased lymphocytes (immunosuppression). | ||||
| Clinical Availability Status | Clinically available (routine testing) | ||||
| Notes and Dynamics | The survival period of patients with NLR >3 is 42% shorter than those with NLR <2, serving as a non-invasive prognostic indicator; positively correlated with disease progression rate. | ||||