| Biomarker | DAXX/ATRX | Full name | Death domain-associated protein / ATRX chromatin remodeler | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | Prognosis and differential diagnosis |
| Disease(or Constitution) | Pancreatic Neuroendocrine Tumors | Disease Subtypes | PanNET (well differentiated, G1/G2/G3) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Tissue (IHC, FISH, NGS) | ||
| Pathobiological Mechanisms | Components of the chromatin remodeling complex, loss of which leads to substituted prolonged telomeres (ALT) and genomic instability | ||||
| Clinical Availability Status | In clinical validation, 85% of deletion cases had ALT, which was a strong independent prognostic factor for distant metastasis and recurrence. It can be used to distinguish PanNET G3 from PanNEC | ||||
| Notes and Dynamics | The mutations are mutually exclusive, and liquid biopsy to detect cfDNA mutations is the frontier | ||||
| Biomarker | MEN1 | Full name | Multiple endocrine neoplasia type 1 gene | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | Susceptibility, prognosis |
| Disease(or Constitution) | Pancreatic Neuroendocrine Tumors | Disease Subtypes | PanNET (well differentiated, G1/G2/G3) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Whole blood/tissue (gene sequencing, IHC) | ||
| Pathobiological Mechanisms | It encodes menin protein, which regulates histone methylation and cell cycle, and mutations lead to uncontrolled cell proliferation | ||||
| Clinical Availability Status | Clinical available (risk assessment and prognostic stratification) : 44% of sporadic PanNET mutation, TuBianZhe relatively good prognosis; Core indicators for screening familial MEN1 syndrome | ||||
| Notes and Dynamics | Combined with DAXX/ATRX mutation, the risk stratification model can be optimized | ||||
| Biomarker | miR-342-3p | Full name | microRNA-342-3p | Molecular Type | Nucleic acid (microRNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis and prognosis assessment |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Serum (qRT-PCR) | ||
| Pathobiological Mechanisms | Significantly reduced expression in serum, negatively correlated with SLEDAI, with low expression indicating poor prognosis. | ||||
| Clinical Availability Status | Research validation: ROC curve distinguishes SLE from healthy controls, while log rank analysis indicates poor prognosis in the low-expression group. | ||||
| Notes and Dynamics | Possesses both diagnostic and prognostic value, providing a basis for risk stratification. | ||||
| Biomarker | SYP | Full name | Synaptophysin | Molecular Type | Proteins |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | Diagnosis (confirmation of neuroendocrine differentiation) |
| Disease(or Constitution) | Pancreatic Neuroendocrine Tumors | Disease Subtypes | PanNET (well differentiated, G1 / G2 / G3) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Tissue (immunohistochemical IHC) | ||
| Pathobiological Mechanisms | Synaptic vesicle membrane protein, involved in neurotransmitter release, is a core marker of neuroendocrine lineage | ||||
| Clinical Availability Status | Clinical gold standard: it needs to be combined with CgA to confirm neuroendocrine differentiation, and the positive rate is nearly 100%, without subtype specificity | ||||
| Notes and Dynamics | It may still be positive in poorly differentiated tumors and is a key marker for identifying non-neuroendocrine tumors | ||||
| Biomarker | CgA | Full name | Chromogranin A | Molecular Type | protein |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | Diagnosis, monitoring and prognosis |
| Disease(or Constitution) | Pancreatic Neuroendocrine Tumors | Disease Subtypes | PanNET (well differentiated, G1/G2/G3) | ||
| Organ | Pancreas | Test Sample / Technology Platform | Serum/plasma (immune analysis method, ELISA) | ||
| Pathobiological Mechanisms | Particles of the neuroendocrine cells secrete proteins, tumor progression, released when reflect the tumor load | ||||
| Clinical Availability Status | Routine clinical application: PanNENs screening, disease progression monitoring and treatment response evaluation; 60-83% sensitivity and specificity of 72-85%, need to rule out the use of interference factors such as renal insufficiency, PPI | ||||
| Notes and Dynamics | And NSE joint detection can improve the prognosis assessment accuracy, is by far the most commonly used general serum marker | ||||
| Biomarker | PIT1 | Full name | Pituitary-specific positive transcription factor 1 | Molecular Type | protein |
| Molecular Formula | Macromolecule | Molecular Weight | / | Core Functional Dimensions | The classification, diagnosis |
| Disease(or Constitution) | Pituitary Adenoma | Disease Subtypes | More hormone of pituitary adenoma (Plurihormonal) | ||
| Organ | Pituitary | Test Sample / Technology Platform | Organization (immunohistochemical IHC) | ||
| Pathobiological Mechanisms | Transcription factors, regulation of GH/PRL, TSH cell lineage differentiation | ||||
| Clinical Availability Status | Clinical gold standard: to clear more hormone tumor cell origin, guiding treatment options | ||||
| Notes and Dynamics | Combined with hormone detection, it can accurately classify the tumors | ||||
| Biomarker | CLEC4E | Full name | C-Type Lectin Domain Family 4 Member E | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, disease activity/prognosis assessment |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Peripheral blood (RT-qPCR) | ||
| Pathobiological Mechanisms | High expression in peripheral blood, associated with immune markers, serves as an independent predictor of disease activity. | ||||
| Clinical Availability Status | Research validation: AUC=0.7744 (diagnosis), 0.6360 (activity differentiation), with a combined AUC of 0.9407 when combined with other markers. | ||||
| Notes and Dynamics | High expression is associated with poor prognosis, and combined detection enhances diagnostic and prognostic value. | ||||
| Biomarker | IGHG3 | Full name | Immunoglobulin Heavy Chain Gamma 3 (immunoglobulin fragment) | Molecular Type | Protein (immunoglobulin fragment) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, disease activity, and renal injury assessment |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Saliva, serum, urine (quantitative laboratory testing) | ||
| Pathobiological Mechanisms | The levels in saliva, serum, and urine were significantly elevated, with urinary IGHG3 showing a positive correlation with SLEDAI and renal involvement. | ||||
| Clinical Availability Status | Research Verification: Urinary IGHG3 levels are significantly higher in nephritis patients compared to non-nephritis patients, and multi-liquid testing can provide complementary results. | ||||
| Notes and Dynamics | Providing multidimensional and non-invasive monitoring indicators for SLE, with outstanding value in renal injury assessment. | ||||
| Biomarker | sST2 | Full name | Soluble Suppression of Tumorigenicity 2 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, assessment of disease activity |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Serum (laboratory test) | ||
| Pathobiological Mechanisms | Serum levels were significantly elevated, particularly in patients with moderate to severe active disease, and decreased after treatment. | ||||
| Clinical Availability Status | Research validation: The area under the curve (AUC) for distinguishing active disease was 0.959, and for moderate/severe activity was 0.962, demonstrating high sensitivity and specificity. | ||||
| Notes and Dynamics | Associated with multiple clinical and laboratory indicators, it serves as a potential biomarker for pSLE. | ||||
| Biomarker | DDX5 | Full name | DEAD-Box Helicase 5 | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, differential diagnosis |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Serum (ELISA) | ||
| Pathobiological Mechanisms | Significantly elevated serum levels, associated with SLE activity, demonstrate higher diagnostic value when combined with anti-dsDNA and anti-Sm antibodies. | ||||
| Clinical Availability Status | Research validation: AUC=0.976 (combined detection), CBFCM demonstrates superior performance to ELISA. | ||||
| Notes and Dynamics | To provide novel serological markers for the differential diagnosis of SLE and RA. | ||||
| Biomarker | hsa_circ_0044235, hsa_circ_0001947 | Full name | Homo sapiens Circular RNA 0044235, Homo sapiens Circular RNA 0001947 | Molecular Type | Nucleic acid (circ RNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Plasma (quantitative reverse transcription PCR) | ||
| Pathobiological Mechanisms | Significantly reduced expression in plasma, serving as an independent risk factor, with significant diagnostic value in combined testing. | ||||
| Clinical Availability Status | Research validation: Differentiates newly diagnosed SLE from healthy controls and RA patients, with correlation to platelet parameters and treatment-related factors. | ||||
| Notes and Dynamics | Non-invasive biomarker, applicable for early diagnosis in newly diagnosed patients. | ||||
| Biomarker | CXCL13 | Full name | C-X-C Motif Chemokine Ligand 13 | Molecular Type | Protein (chemokine) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, assessment of disease activity |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | Neuropsychiatric systemic lupus erythematosus (NPSLE) | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Serum (ELISA) | ||
| Pathobiological Mechanisms | Serum levels were significantly elevated in patients with active NPSLE, showing a positive correlation with the SLEDAI score. | ||||
| Clinical Availability Status | Research validation: Differentiation of active NPSLE from other SLE subtypes and healthy controls. | ||||
| Notes and Dynamics | Providing potential specific biomarkers for the diagnosis of NPSLE. | ||||
| Biomarker | PGRN | Full name | Progranulin | Molecular Type | Protein (growth factor-like molecule) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, pathogenesis-related |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Serum (laboratory test) | ||
| Pathobiological Mechanisms | Elevated serum levels participate in inflammatory responses and renal injury, mediating the pathogenesis of SLE | ||||
| Clinical Availability Status | Research Verification: PGRN knockout mice exhibited reduced anti-dsDNA antibody levels and Less Severe Renal Injury | ||||
| Notes and Dynamics | Key mediators in the pathogenesis of SLE. | ||||
| Biomarker | RSAD2 | Full name | Radical S-Adenosyl Methionine Domain Containing 2 | Molecular Type | Protein (iron metabolism-related gene) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, pathogenesis-related |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Peripheral blood mononuclear cells (bioinformatics analysis, qPCR, Western blot). | ||
| Pathobiological Mechanisms | RSAD2 demonstrated the highest clinical validity (AUC=0.927) and was positively correlated with activated dendritic cells. | ||||
| Clinical Availability Status | Research Verification: RSAD2 knockdown inhibits DC activation and inflammatory mediator expression. | ||||
| Notes and Dynamics | Elucidating the association between immune dysregulation and iron metabolism abnormalities, RSAD2 serves as a potential therapeutic target. | ||||
| Biomarker | lncRNA SNHG1 | Full name | Small Nucleolar RNA Host Gene 1 | Molecular Type | Nucleic acid (lnc RNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, pathogenesis-related |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Serum, peripheral blood mononuclear cells (RT-qPCR). | ||
| Pathobiological Mechanisms | Upregulated expression in serum, positively correlated with SLEDAI score and inflammatory markers, regulating PBMC apoptosis. | ||||
| Clinical Availability Status | Research validation: Possesses auxiliary diagnostic potential, and downregulation can inhibit PBMC apoptosis. | ||||
| Notes and Dynamics | Participate in the regulation of SLE inflammation and apoptosis. | ||||
| Biomarker | ADAMTS-2 | Full name | A Disintegrin And Metalloproteinase with Thrombospondin Motifs 2 (procollagen N-protease) | Molecular Type | Protein (procollagen N-protease) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, pathogenesis-related |
| Disease(or Constitution) | Autoimmune Disease (AD) | Disease Subtypes | SLE | ||
| Organ | Spleen, thymus, lymphoid tissue | Test Sample / Technology Platform | Peripheral blood mononuclear cells (RT-qPCR) | ||
| Pathobiological Mechanisms | The expression in PBMCs was significantly higher than in RA patients and healthy controls (HC), enriched in the TNFα signaling via NF-κB pathway. | ||||
| Clinical Availability Status | Research validation: AUC=0.805, correlated with multiple immune cell and laboratory indicators. | ||||
| Notes and Dynamics | May emerge as a novel therapeutic target for SLE. | ||||