| Biomarker | ERG | Full name | ETS-related gene | Molecular Type | Protein |
| Molecular Formula | Molecular Weight | 55 kDa | Core Functional Dimensions | diagnosis | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Vascular endothelial cells, tumor cells | Test Sample / Technology Platform | Organization (IHC) | ||
| Pathobiological Mechanisms | Vascular endothelial cell specific transcription factor, participate in identity and endothelial cells | ||||
| Clinical Availability Status | Clinically available: Diagnostic core markers | ||||
| Notes and Dynamics | The strong positive expression in AS tissue can distinguish AS from other soft tissue sarcomas | ||||
| Biomarker | NOTCH1::ROS1 fusion gene | Full name | Notch receptor 1::ROS proto-oncogene 1, receptor tyrosine kinase gene fusion | Molecular Type | Nucleic acid (RNA/DNA) |
| Molecular Formula | Molecular Weight | 250-300 kDa | Core Functional Dimensions | Therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Tumor cells (vascular endothelial origin) | Test Sample / Technology Platform | Organization (NGS, RNA sequencing) | ||
| Pathobiological Mechanisms | Fusion protein activated downstream signaling pathways, drive tumorigenesis | ||||
| Clinical Availability Status | Cutting-edge research: radiation related AS found in children | ||||
| Notes and Dynamics | Provide evidence for ROS1 inhibitor therapy | ||||
| Biomarker | KHDRBS1::NTRK3 fusion gene | Full name | KH domain containing, RNA binding, signal transduction associated 1::Neurotrophic receptor tyrosine kinase 3 gene fusion | Molecular Type | Nucleic acid (RNA/DNA) |
| Molecular Formula | Molecular Weight | 180-220 kDa | Core Functional Dimensions | Therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Tumor cells (vascular endothelial origin) | Test Sample / Technology Platform | Organization (NGS, RNA sequencing) | ||
| Pathobiological Mechanisms | Activate the TRK signaling pathways, and promote the tumor cell proliferation and survival | ||||
| Clinical Availability Status | Cutting-edge research: AS found in children | ||||
| Notes and Dynamics | To la rochelle for (TRK inhibitors) have complete and lasting response | ||||
| Biomarker | NUP160-SLC43A3 fusion gene | Full name | Nucleoporin 160 kDa::Solute carrier family 43 member 3 gene fusion | Molecular Type | Nucleic acid (RNA/DNA) |
| Molecular Formula | Molecular Weight | 200-250 kDa | Core Functional Dimensions | Diagnostic and therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Vascular endothelial cells, tumor cells | Test Sample / Technology Platform | Tissue (NGS, RNA sequencing) | ||
| Pathobiological Mechanisms | Fusion gene drive endothelial cell malignant transformation | ||||
| Clinical Availability Status | Validation: primary scalp AS in common | ||||
| Notes and Dynamics | About 36% of primary scalp AS the fusion, has the subtype specificity | ||||
| Biomarker | TEK::GAB2 gene fusion | Full name | TEK receptor tyrosine kinase::GRB2-associated binding protein 2 gene fusion | Molecular Type | Nucleic acid (RNA/DNA) |
| Molecular Formula | Molecular Weight | 150-200 kDa | Core Functional Dimensions | Diagnostic and therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Vascular endothelial cells, tumor cells | Test Sample / Technology Platform | Tissue (RNA sequencing, RT-PCR, Sanger sequencing) | ||
| Pathobiological Mechanisms | Fusion protein activated PI3K/Akt/mTOR pathway, promotes endothelial cell malignant proliferation | ||||
| Clinical Availability Status | Cutting-edge research: new drive fusion gene | ||||
| Notes and Dynamics | Pediatric pelvic soft tissue was first discovered in the AS, provide new targets for targeted therapy | ||||
| Biomarker | BRAF | Full name | B-Raf proto-oncogene, serine/threonine kinase | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | 95 kDa | Core Functional Dimensions | Targets for Treatment | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | All cells (MAPK pathway) | Test Sample / Technology Platform | Organization (NGS, WES, WGS) | ||
| Pathobiological Mechanisms | Mutations activate the MAPK/ERK pathway, enhance cell proliferation and tumor | ||||
| Clinical Availability Status | Validation: rare but function key | ||||
| Notes and Dynamics | Mutations are hot spot mutations, MEK inhibitors may have a potential treatment | ||||
| Biomarker | RAS family (KRAS/HRAS/NRAS) | Full name | Kirsten rat sarcoma viral oncogene homolog / Harvey rat sarcoma viral oncogene homolog / Neuroblastoma RAS viral oncogene homolog | Molecular Type | Nucleic acids (DNA) |
| Molecular Formula | Molecular Weight | 21 kDa | Core Functional Dimensions | Therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | All cells (MAPK pathway) | Test Sample / Technology Platform | Organization (NGS, WES, WGS) | ||
| Pathobiological Mechanisms | Activating mutations drive MAPK/ERK pathway, promote cell proliferation and malignant transformation | ||||
| Clinical Availability Status | Study validation: Subtype-specific distribution | ||||
| Notes and Dynamics | The mutation frequency was 14% (0%-53%), which cooperated with BRAF mutation to regulate tumor progression | ||||
| Biomarker | PIK3CA | Full name | Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | 110 kDa | Core Functional Dimensions | Prognosis and therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | All cells (PI3K pathway) | Test Sample / Technology Platform | Organization (NGS, WES, custom TaqMan detection) | ||
| Pathobiological Mechanisms | Activating mutations lead to abnormal activation of the PI3K/Akt/mTOR pathway and promote cell survival and proliferation | ||||
| Clinical Availability Status | Validation: breast subtypes enrichment | ||||
| Notes and Dynamics | Mutation frequency of 13% (0% 45%), is associated with poor prognosis, Alpelisib PI3K inhibitors in clinical trials | ||||
| Biomarker | FLT4 (VEGFR3) | Full name | Fms-related tyrosine kinase 4 (vascular endothelial growth factor receptor 3) | Molecular Type | Nucleic acid (DNA)/protein |
| Molecular Formula | Molecular Weight | 195 kDa | Core Functional Dimensions | Prognosis and therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Vascular/lymphatic endothelial cells, tumor cells | Test Sample / Technology Platform | Organization (NGS, FISH, IHC, WES) | ||
| Pathobiological Mechanisms | Gene amplification or expression, regulation lymph angiogenesis and tumor metastasis | ||||
| Clinical Availability Status | Clinical validation: secondary common subtype | ||||
| Notes and Dynamics | With MYC amplification (secondary AS), amplification is associated with poor prognosis, sensitive to sorafenib etc TKIs | ||||
| Biomarker | KDR (VEGFR2) | Full name | Kinase insert domain receptor (vascular endothelial growth factor receptor 2) | Molecular Type | Nucleic acid (DNA)/protein |
| Molecular Formula | Molecular Weight | 150 kDa | Core Functional Dimensions | Diagnostic, therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Vascular endothelial cells, tumor cells | Test Sample / Technology Platform | Tissue (NGS, WES, WGS, IHC, FISH) | ||
| Pathobiological Mechanisms | Gain function mutation or overexpression activates VEGF pathway and promotes endothelial cell proliferation and migration | ||||
| Clinical Availability Status | Clinical validation/therapeutic targets: TKIs treatment potential biomarkers | ||||
| Notes and Dynamics | Other parts of the breast AS mutation rate is AS high AS 73%, 5% to 18%, the mutation is associated with high protein expression | ||||
| Biomarker | PTPRB | Full name | Protein tyrosine phosphatase receptor type B | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | 190 kDa | Core Functional Dimensions | Therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | Vascular endothelial cells, tumor cells | Test Sample / Technology Platform | Tissue (NGS, WES, WGS) | ||
| Pathobiological Mechanisms | Loss of tyrosine phosphatase function can relieve the inhibition of ANGPT-TIE2 pathway and enhance angiogenesis | ||||
| Clinical Availability Status | The study verified that the mutations were mainly truncated mutations | ||||
| Notes and Dynamics | The mutation frequency is 18% (11%-29%), which drives tumor progression by activating the PI3K/Akt/mTOR pathway | ||||
| Biomarker | MYC | Full name | MYC proto-oncogene, bHLH transcription factor | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | 49 kDa | Core Functional Dimensions | Diagnosis, prognosis, and therapeutic targets | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | All cells (cell proliferation regulation) | Test Sample / Technology Platform | Organization (NGS, FISH, WES, WGS) | ||
| Pathobiological Mechanisms | Gene amplification or mutation activation promotes cell proliferation, metabolic reprogramming, and angiogenesis | ||||
| Clinical Availability Status | Clinical validation: secondary core subtype diagnosis markers | ||||
| Notes and Dynamics | The amplification rate of secondary AS (radiation/lymphedema related) is up to 100%, and primary AS is rare (7%), which can be used to distinguish AS from benign vascular lesions | ||||
| Biomarker | POT1 | Full name | Protection of telomeres 1 | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | 70 kDa | Core Functional Dimensions | Susceptibility, prognosis | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | All cells (telomere maintenance) | Test Sample / Technology Platform | Tissue (NGS, WES, WGS) | ||
| Pathobiological Mechanisms | Telomere protective proteins function abnormally and promote chromosome instability and tumorigenesis | ||||
| Clinical Availability Status | Study validation: Enriched in head and neck subtypes | ||||
| Notes and Dynamics | The mutation frequency was 17% (16%-19%), and the mutation probability in AS was 11 times higher than that in other tumors. Most of the mutations were missense mutations | ||||
| Biomarker | TP53 | Full name | Tumor protein p53 | Molecular Type | Nucleic acid (DNA) |
| Molecular Formula | Molecular Weight | 53 kDa | Core Functional Dimensions | Diagnosis and prognosis | |
| Disease(or Constitution) | Angiosarcoma | Disease Subtypes | / | ||
| Organ | All cells (tumor suppressor) | Test Sample / Technology Platform | Organization (NGS, WES, WGS, PCR-based DNA sequencing) | ||
| Pathobiological Mechanisms | Loss of tumor suppressor gene function lead to genomic instability, promote angiogenesis and tumor cell proliferation | ||||
| Clinical Availability Status | Research/clinical validation: widely exists in various subtypes, head and neck subtype mutation rate is higher | ||||
| Notes and Dynamics | The mutation frequency was 27% (10%-69%), mainly missense mutation, which was associated with the up-regulation of VEGF expression | ||||
| Biomarker | MFCC / MPT | Full name | Mel-frequency cepstral coefficients / Maximum phonation time | Molecular Type | Other (acoustic features) |
| Molecular Formula | Molecular Weight | Core Functional Dimensions | Congestion monitoring, remote follow-up | ||
| Disease(or Constitution) | Heart failure | Disease Subtypes | / | ||
| Organ | Vocal cords, lungs, myocardium | Test Sample / Technology Platform | Audio samples (smartphone recordings, machine learning analysis) | ||
| Pathobiological Mechanisms | HF vocal cord edema (capacity load), lung function decline, affect the sound parameters (such as MFCC, the maximum voice time MPT) | ||||
| Clinical Availability Status | Cutting-edge research/clinical trial: - Amir distinguish between HF study shows that sound characteristics, such as the accuracy of the congestion/non congestion state = 98%; -Validation in multiple languages (Hebrew, Arabic) showed good stability | ||||
| Notes and Dynamics | Patients with acute HF MPT < 18 s prompt severe congestion, MPT after treatment to > 22 s is associated with good prognosis; Smartphone APP (such as CardioVoice) can monitor the sound characteristics in real time and warn of the deterioration of HF (sensitivity 89%, specificity 82%). Chronic HF remote follow-up, voice unwanted clinic on biomarkers can be reduced by 30% | ||||
| Biomarker | CLP | Full name | Cardiac Lipid Panel (sphingomyelin, triglycerides, phosphatidylcholine) | Molecular Type | Metabolites (lipids) |
| Molecular Formula | Molecular Weight | SM: ~700-800 Da; TAG: ~800-900 Da; PC: ~700-800 Da | Core Functional Dimensions | Early diagnosis and subtype evaluation | |
| Disease(or Constitution) | Heart failure | Disease Subtypes | / | ||
| Organ | Myocardium, liver, adipose tissue | Test Sample / Technology Platform | Plasma (LC-MS/MS, NMR) | ||
| Pathobiological Mechanisms | Containing sphingomyelin (SM), triglycerides (TAG), phosphatidyl choline (PC), reflect myocardial lipid metabolic disturbance, early asymptomatic HFrEF anomalies | ||||
| Clinical Availability Status | The validation: - Mueller-Hennessen etc. The study shows that the CLP in the diagnosis of early HFrEF AUC = 0.85 (0.78) is better than that of the NT-proBNP; -correlation with LVEF<40%, r=-0.47 | ||||
| Notes and Dynamics | (1) CLP can identify "asymptomatic HFrEF" | ||||