| Biomarker | FLT3 mutation (ITD/TKD) | Full name | Fms-Like Tyrosine Kinase 3 gene mutation (Internal Tandem Duplication/Tyrosine Kinase Domain) | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis, therapeutic targets |
| Disease(or Constitution) | Acute Myeloid Leukemia (AML) | Disease Subtypes | / | ||
| Organ | Blood, bone marrow | Test Sample / Technology Platform | Whole blood/bone marrow (gene sequencing, DNA fragment analysis) | ||
| Pathobiological Mechanisms | Type III receptor tyrosine kinase, upon mutation, activates pathways such as STAT5 and RAS/MAPK, driving abnormal proliferation of hematopoietic cells. | ||||
| Clinical Availability Status | Clinically available/under targeted therapy: key prognostic stratification indicators, with targeted drugs already approved. | ||||
| Notes and Dynamics | ITD mutations are associated with poorer prognosis than TKD, and the higher the allele ratio, the worse the prognosis. Inhibitors such as sorafenib and midostaurin require combination with chemotherapy to improve resistance. | ||||
| Biomarker | NPM1 mutation | Full name | Nucleophosmin 1 gene mutation | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | / | Molecular Weight | / | Core Functional Dimensions | Diagnosis, prognosis, MRD monitoring |
| Disease(or Constitution) | Acute Myeloid Leukemia (AML) | Disease Subtypes | / | ||
| Organ | Blood, bone marrow | Test Sample / Technology Platform | Whole blood/bone marrow (genomic sequencing, RT-qPCR) | ||
| Pathobiological Mechanisms | The nuclear-cytoplasmic shuttling molecular chaperone protein, when mutated, leads to cytoplasmic mislocalization and abnormal regulation of functions such as ribosome assembly and DNA repair. | ||||
| Clinical Availability Status | Clinical validation/guideline recommendations: Prognostic stratification included in ELN and NCCN guidelines; Core indicators for MRD monitoring. | ||||
| Notes and Dynamics | Single mutations indicate a favorable prognosis, while the presence of FLT3-ITDhigh or IDH1/2 mutations is associated with a poorer prognosis; ATRA+ATO can degrade the mutated protein. | ||||
| Biomarker | AMH1 | 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. | ||||