| Biomarker | AMH | Full name | Anti-Müllerian hormone | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Monitoring |
| Disease(or Constitution) | PCOS | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum (CLIA, ELISA) | ||
| Pathobiological Mechanisms | In patients with PCOS, the number of pre-schisis follicles and small antral follicles in the ovaries significantly increases (manifesting polycystic changes). AMH, which is secreted by the granulosa cells of pre-schisis follicles, is positively correlated with the number of follicles and can reflect the "polycystic" reserve characteristics of the ovaries. | ||||
| Clinical Availability Status | The number of pre-antral follicles and small antral follicles in the ovaries of PCOS patients significantly increased (the common clinical indicators for polycystic changes: widely used for assessing ovarian reserve and diagnosing PCOS). | ||||
| Notes and Dynamics | The level of AMH in PCOS patients is usually 2-3 times that of healthy women, and its sensitivity for diagnosing polycystic ovaries is up to 85%-90%. It should be noted that it needs to be differentiated from premature ovarian failure (where AMH is extremely low), and AMH alone cannot diagnose PCOS. Other criteria must also be combined. | ||||
| Biomarker | LH/FSH | Full name | Luteinizing hormone/Follicle-stimulating hormone | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | PCOS | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum (CLIA, ELISA) | ||
| Pathobiological Mechanisms | Disorder of the hypothalamus - pituitary - ovary (HPO) axis leads to an increase in the frequency and amplitude of LH pulses, a relative insufficiency in FSH secretion, and an elevated LH/FSH ratio, which inhibits follicle maturation and promotes the synthesis of androgens in the ovary. | ||||
| Clinical Availability Status | Clinical routine auxiliary diagnosis: Classic endocrine indicators, commonly used for differentiating PCOS from other disorders of ovulation. | ||||
| Notes and Dynamics | An adult female with an LH/FSH ratio of ≥ 2.5 often indicates PCOS. However, for adolescent PCOS patients, the significance of this ratio is limited (as the HPO axis in adolescence is not yet stable); using it alone is insufficient in sensitivity, and it is necessary to combine with hyperandrogenism or ovarian morphology indicators. | ||||
| Biomarker | T | Full name | Testosterone | Molecular Type | Protein |
| Molecular Formula | C₁₉H₂₈O₂ | Molecular Weight | 288.42 g/mol | Core Functional Dimensions | Diagnosis, Monitoring |
| Disease(or Constitution) | PCOS | Disease Subtypes | / | ||
| Organ | Ovary | Test Sample / Technology Platform | Serum (CLIA, RIA, LC-MS/MS) | ||
| Pathobiological Mechanisms | Clinical routine application: Incorporate the "hyperandrogenemia" indicator as stipulated in the Rotterdam criteria for diagnosing PCOS. | ||||
| Clinical Availability Status | In patients with PCOS, the ovarian stromal cells and adrenal glands secrete excessive androgens. Excessive testosterone inhibits follicular development, causing ovulation disorders, and simultaneously triggers hyperandrogenic manifestations such as hirsutism and acne. | ||||
| Notes and Dynamics | It is necessary to distinguish between total testosterone and free testosterone (free testosterone better reflects biological activity); approximately 20%-30% of PCOS patients have normal total testosterone levels but elevated free testosterone, and the free testosterone index (FAI) needs to be calculated in combination with SHBG. | ||||
| Biomarker | TFE3、TFEB gene | Full name | Transcription Factor Binding to IGHM Enhancer 3、Transcription Factor EB | Molecular Type | Nucleic acid（DNA / Fusion gene） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | tRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Tissue（FISH / genesequencing） | ||
| Pathobiological Mechanisms | Transcription factor fusion drives tumorigenesis | ||||
| Clinical Availability Status | Clinically available / Pathologically confirmed: Gold standard | ||||
| Notes and Dynamics | Immunohistochemistry can assist in screening, but final confirmation requires gene testing. | ||||
| Biomarker | CTSK | Full name | Cathepsin K | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | Angioleiomyolipoma(AML) | ||
| Organ | Kidney | Test Sample / Technology Platform | Tissue (Immunohistochemistry) | ||
| Pathobiological Mechanisms | MITF is associated with the transcriptional pathway and specifically expressed in angiosarcoma. | ||||
| Clinical Availability Status | Clinically available / Routine pathology: Subtype identification markers | ||||
| Notes and Dynamics | Translocation-positive RCC, other RCC subtypes negative | ||||
| Biomarker | HMB45、melan-A | Full name | Human Melanoma Black 45、Melanoma Antigen recognized by T cells-A | Molecular Type | Protein |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | Angioleiomyolipoma(AML) | ||
| Organ | Kidney | Test Sample / Technology Platform | Tissue (Immunohistochemistry) | ||
| Pathobiological Mechanisms | Melanocyte marker, positive for angiosmooth muscle lipoma | ||||
| Clinical Availability Status | Clinically available / Routine pathology: Diagnostic indicators for differentiation | ||||
| Notes and Dynamics | Translocation-positive RCC also requires evaluation with other markers | ||||
| Biomarker | PLIN2 | Full name | Peritrophin 2 | Molecular Type | Protein（Exosomal proteins） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis、Monitoring |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | mRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Urine（Exosome detection） | ||
| Pathobiological Mechanisms | In collaboration with AQP-1, reflecting tumor burden | ||||
| Clinical Availability Status | Study test: High diagnostic specificity | ||||
| Notes and Dynamics | Lower than the AQP-1 expression multiple, but specifically complementary | ||||
| Biomarker | AQP-1 | Full name | Aquaporin 1 | Molecular Type | Protein（Exosomal proteins） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis、Monitoring |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | mRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Urine（Exosome detection） | ||
| Pathobiological Mechanisms | Highly expressed in ccRCC and pRCC, with a significant decrease in postoperative levels | ||||
| Clinical Availability Status | Study test: potential for diagnosis and efficacy monitoring | ||||
| Notes and Dynamics | A postoperative decline of more than 80% in function may reflect the efficacy of tumor resection. | ||||
| Biomarker | GAGs score | Full name | Glycosaminoglycan score | Molecular Type | Carbohydrates (glycosaminoglycans) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | mRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Urine（Biochemical detection） | ||
| Pathobiological Mechanisms | Transcriptional upregulation in mRCC reflects tumor invasiveness | ||||
| Clinical Availability Status | Study test：Independent prognosis indicator | ||||
| Notes and Dynamics | The urine GAGs score has greater prognostic value than serum levels in predicting PFS and OS | ||||
| Biomarker | CCND1 gene | Full name | Cyclin D1 | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, Susceptibility |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | Oncocytoma | ||
| Organ | Kidney | Test Sample / Technology Platform | Tissue（Gene sequencing） | ||
| Pathobiological Mechanisms | The gene encoding cyclin D1 is associated with mutations and the occurrence of eosinophilic cell tumors. | ||||
| Clinical Availability Status | Study test：Commonly associated with chromosomal abnormalities | ||||
| Notes and Dynamics | Often accompanied by chromosome 1 deletion and Y chromosome deletion | ||||
| Biomarker | TP53 gene | Full name | TP53 gene | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Prognosis |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | chRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Tissue（Gene sequencing） | ||
| Pathobiological Mechanisms | Tumor suppressor gene, mutation leading to cell cycle disruption | ||||
| Clinical Availability Status | Study test: prognostic biomarker for chRCC | ||||
| Notes and Dynamics | Low mutation frequency, associated with tumor progression | ||||
| Biomarker | CD117 | Full name | KIT Proto-Oncogene Receptor Tyrosine Kinase | Molecular Type | Protein（Stem cell factor receptor） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis (Classification) |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | chRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Organization (Immunohistochemistry) | ||
| Pathobiological Mechanisms | The pattern of membrane expression is specific and can be used to differentiate it from eosinophilic cell tumor. | ||||
| Clinical Availability Status | Clinically available / Routine pathology: Core indicators for subtype differentiation | ||||
| Notes and Dynamics | ChRCC exhibits membranous staining, while eosinophilic cell tumor shows strong cytoplasmic positivity. | ||||
| Biomarker | SETD2 gene | Full name | SET Domain Containing 2, Histone Lysine Methyltransferase | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis (Classification) |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | pRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Organization (gene sequencing) | ||
| Pathobiological Mechanisms | Common mutations in pRCC gene II, regulating chromatin modification | ||||
| Clinical Availability Status | Study test: Molecular characteristics of type II pRCC | ||||
| Notes and Dynamics | Associated with poor prognosis in type II pRCC | ||||
| Biomarker | AMAC | Full name | Alpha-methylacyl-CoA Racemase | Molecular Type | Protein（Mitochondrial enzyme） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis (Classification) |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | pRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Organization (Immunohistochemistry) | ||
| Pathobiological Mechanisms | Normal expression in proximal renal tubules and high expression in pRCC | ||||
| Clinical Availability Status | Clinical availability / Routine pathology: Subtype identification index | ||||
| Notes and Dynamics | ccpRCC is also positive and requires combination with other markers | ||||
| Biomarker | MET | Full name | Molecular Type | Molecular Type | Nucleic acid（DNA） |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis (Classification) |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | pRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Tissue / Whole Blood (Genomic Sequencing) | ||
| Pathobiological Mechanisms | Core driver gene of type I pRCC, mutations lead to pathway activation | ||||
| Clinical Availability Status | Study test / Typing assistance: Characteristics of hereditary papillary renal cell carcinoma | ||||
| Notes and Dynamics | Type I pRCC commonly exhibits amplifications of chromosomes 7p and 17p, as well as deletions of the Y chromosome. | ||||
| Biomarker | 34βE12 | Full name | High Molecular Weight Cytokeratin 34βE12 | Molecular Type | Protein（Cytokeratin |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis (Classification) |
| Disease(or Constitution) | Renal Cell Carcinoma(RCC) | Disease Subtypes | ccRCC | ||
| Organ | Kidney | Test Sample / Technology Platform | Organization (Immunohistochemistry) | ||
| Pathobiological Mechanisms | Specifically expressed in ccP RCC, classic ccRCC-negative | ||||
| Clinical Availability Status | Study test / Pathological application: Auxiliary diagnosis when morphology is uncertain | ||||
| Notes and Dynamics | Improving the diagnostic accuracy of ccP RCC versus classic ccRCC | ||||