Epithelioid Hemangioendothelioma: Comprehensive Disease-Characteristics Report

Evidence scope. This synthesis prioritizes molecularly confirmed human disease, expert-center registry/consensus material, and primary mechanistic studies, especially 2022–2024. Older numerical estimates are retained when newer prospective data are unavailable. Most information is aggregated disease-level evidence rather than patient-level EHR data. The prospective EURACAN registry begun in December 2023 is designed to remedy major natural-history and treatment-evidence gaps across 21 expert centers in 10 countries. (NCT06408441 chunk 1)

Table: This table condenses the highest-yield disease characteristics of epithelioid hemangioendothelioma for knowledge-base use, including defining fusions, mechanism, prognosis, treatment, and emerging biomarker evidence. It highlights exact reported percentages and flags ontology or coding elements that should be verified locally before database ingestion.

1. Disease information

Definition

Epithelioid hemangioendothelioma (EHE) is an ultra-rare, translocation-associated malignant vascular sarcoma showing endothelial differentiation. It can arise almost anywhere, but liver, lung, bone, and soft tissue are especially frequent. Its behavior ranges from prolonged radiographic stability or spontaneous regression to rapidly fatal metastatic disease. (stacchiotti2024gdf15predictsepithelioid pages 1-2, NCT06408441 chunk 1)

Identifiers and terminology

• MONDO: MONDO:0015523.
• Common names: epithelioid hemangioendothelioma; epithelioid haemangioendothelioma; EHE; hepatic EHE/HEHE; pulmonary EHE/PEH when site-qualified.
• Historical term: intravascular bronchioloalveolar tumor, formerly used for pulmonary EHE.
• MeSH: Hemangioendothelioma, Epithelioid; exact current identifier should be verified against the release used by the knowledge base.
• Orphanet, OMIM, ICD-10/ICD-11: release-specific codes were not reliably present in the retrieved primary literature and should be resolved directly against current terminology services. EHE is a somatic neoplasm, not a classic Mendelian phenotype; an OMIM disease entry should not be assumed.
• Coding caution: ICD-10-CM often cannot represent EHE histology independently of anatomical site. Cancer-registry coding should combine topography with the applicable ICD-O morphology code after verification against the current ICD-O release.

Open Targets recognizes EHE as MONDO:0015523 but returned no disease-specific target associations; angiosarcoma associations must not be transferred to EHE because these are biologically distinct entities. (OpenTargets Search: epithelioid hemangioendothelioma)

2. Etiology, risk, and protective factors

Causal lesion

EHE is principally caused by an acquired somatic structural rearrangement, not by inherited pathogenic variation:

1. Approximately 90% of tumors harbor WWTR1::CAMTA1, generated classically by t(1;3)(p36;q25).
2. A minority historically classified as EHE harbor YAP1::TFE3. Some contemporary experts recommend calling these YAP1::TFE3-fused hemangioendothelioma because their morphology and biology differ from classic WWTR1::CAMTA1-positive EHE. (stacchiotti2024gdf15predictsepithelioid pages 1-2, ma2022thetazcamta1fusion pages 1-2)

The reported proportions vary with classification and assay—approximately 80–>90% for WWTR1::CAMTA1 and roughly 10–12% for YAP1::TFE3—so frequencies should be interpreted in the context of diagnostic criteria. (ong2021genefusionsin pages 8-10, stacchiotti2024gdf15predictsepithelioid pages 1-2)

Risk and protective factors

No validated inherited susceptibility allele, founder mutation, carrier state, family-history effect, infectious trigger, occupational exposure, toxin, smoking/alcohol association, dietary determinant, or protective lifestyle factor has been established. The recognized arsenic, vinyl chloride, thorium dioxide, radiation, and chronic-lymphedema risks for angiosarcoma should not be attributed to EHE. No reproducible gene–environment interaction is known. Accordingly, penetrance, anticipation, germline mosaicism, consanguinity, and carrier frequency are not applicable to the usual somatic EHE mechanism.

3. Phenotypes and quality-of-life effects

EHE usually begins in adulthood, around the mid-30s to 40 years, but the reported range extends from childhood to advanced age (approximately 8–90 years). About 25–33% of patients may be asymptomatic and diagnosed incidentally. (seavey2022unravelingthebiology pages 2-4, lamar2018epithelioidhemangioendotheliomaas pages 1-3)

The NCI trametinib study formally incorporated PROMIS global health, pain intensity, pain interference, and pain behavior, reflecting clinically important quality-of-life burdens. However, disease-specific validated EHE quality-of-life norms remain limited. (NCT03148275 chunk 1)

4. Genetic and molecular information

Principal alterations

• WWTR1 encodes TAZ, a Hippo-pathway transcriptional coactivator; CAMTA1 supplies nuclear localization and transcription/chromatin-regulatory functions. The fusion is a somatic, activating structural variant rather than a conventional ACMG germline SNV. It is therefore best classified as an oncogenic/pathogenic somatic fusion rather than assigned a germline ACMG category.
• YAP1::TFE3 is another activating somatic fusion involving the YAP Hippo effector.
• Population allele frequency in gnomAD/1000 Genomes is not meaningful for tumor-specific chromosomal fusions; they are expected to be absent from normal-population germline datasets.
• Secondary alterations occur in about half of tumors in some series and include CDKN2A/CDKN2B, RB1, APC, ATRX, XRCC2, and FANCA. Approximately 45% of WWTR1::CAMTA1-positive tumors in one synthesis had no other detected alteration, underscoring the fusion’s sufficiency. (seavey2022unravelingthebiology pages 7-8, stacchiotti2024gdf15predictsepithelioid pages 1-2)

No clinically validated modifier gene is established. Loss of cell-cycle restraints such as CDKN2A is biologically plausible as a progression event, but currently does not define routine genotype-guided care.

Epigenetic/chromatin biology

Both fusion proteins recruit the Ada2a-containing histone acetyltransferase (ATAC) complex, including YEATS2 and ZZZ3, while hyperactivating TEAD-dependent transcription. This is functional chromatin dysregulation rather than a validated diagnostic DNA-methylation signature. ATAC-complex depletion inhibits anchorage-independent growth in fusion-transformed cells, making the complex a candidate therapeutic vulnerability. (seavey2022unravelingthebiology pages 7-8, stacchiotti2024gdf15predictsepithelioid pages 1-2)

5. Environmental and infectious information

No specific environmental, lifestyle, occupational, radiation, medication, or infectious cause has been demonstrated for EHE. Apparent hormonal or female-sex associations remain descriptive and do not establish causation. No pathogen is implicated, and the disease is neither communicable nor zoonotic.

6. Mechanism and pathophysiology

Causal chain

Somatic rearrangement → fusion transcriptional coactivator → constitutive nuclear YAP/TAZ-like activity → TEAD-dependent transcription plus ATAC-mediated chromatin remodeling → survival, proliferation, migration, anoikis resistance, fibromyxoid-stroma production, and metastatic competence → organ-specific nodules, pain, effusions, and organ dysfunction.

Mechanistically, TAZ–CAMTA1 retains the TAZ TEAD-binding region, loses normal C-terminal regulatory elements, and gains CAMTA1-mediated nuclear localization. Consequently, normal Hippo/LATS phosphorylation does not efficiently impose cytoplasmic restraint. (lamar2018epithelioidhemangioendotheliomaas pages 3-5, ma2022thetazcamta1fusion pages 1-2)

A second experimentally supported branch is:

TAZ–CAMTA1 → CTGF induction → CTGF binding integrin αIIbβ3 → RAS–MAPK activation → anchorage-independent growth and xenograft expansion. CTGF knockdown or MEK inhibition with PD0325901/trametinib suppressed growth in transformed NIH3T3 cultures and xenografts. This provided the rationale for phase II trametinib trial NCT03148275. The article’s abstract states: “CTGF and the Ras-MAPK signaling cascade are essential for TC-mediated tumorigenesis.” (PMID 35443056; published April 2022; DOI: https://doi.org/10.1158/1078-0432.CCR-22-0421). (ma2022thetazcamta1fusion pages 1-2)

mTOR and GDF-15

The 2024 study identified tumor-derived GDF-15 as a candidate aggressiveness biomarker. Sirolimus inhibited 4E-BP1 phosphorylation, reduced ATF4/ATF5, and lowered GDF-15 expression/release. In two human cohorts, GDF-15 was higher in EHE than controls (both P<0.001), highest in higher-risk disease (P=0.006 retrospective; P=0.002 prospective), and correlated with aggressiveness. In one longitudinal example, levels rose from 6,792 to 11,475 pg/mL during progression and fell to 4,064 pg/mL with sirolimus-associated stability. This remains a candidate—not yet validated or regulatory-qualified—biomarker. (stacchiotti2024gdf15predictsepithelioid pages 9-9, stacchiotti2024gdf15predictsepithelioid pages 11-12)

The 2024 abstract states: “This study identifies GDF-15 as a novel biomarker of EHE aggressiveness” and reports “markedly higher antitumor activity” for sirolimus than doxorubicin in experimental models (published September 2024; DOI: https://doi.org/10.1158/1078-0432.CCR-23-3991). (stacchiotti2024gdf15predictsepithelioid pages 1-2)

Molecular-profile and ontology suggestions

• GO biological processes: Hippo signaling; regulation of transcription by RNA polymerase II (GO:0006357); chromatin organization (GO:0006325); histone acetylation (GO:0016573); cell proliferation (GO:0008283); cell migration (GO:0016477); MAPK cascade (GO:0000165); angiogenesis (GO:0001525); apoptotic signaling/anoikis—verify current term.
• Cell Ontology: endothelial cell (CL:0000115); vascular endothelial cell and organ-specific endothelial subtypes should be added when supported by specimen location.
• GO cellular components: nucleus (GO:0005634), chromatin (GO:0000785), transcription-regulator complex (GO:0005667).
• Robust EHE metabolomic, lipidomic, spatial-transcriptomic, and single-cell atlases are not yet established. Current multi-omic evidence is primarily bulk genomic/transcriptomic and proteomic/chromatin-interaction work.

7. Anatomy

Primary or multifocal disease most often affects liver (UBERON:0002107), lung (UBERON:0002048), bone tissue (UBERON:0002481), and soft/connective tissue. Pleura, peritoneum, mediastinum, skin, central nervous system, head and neck, and other viscera can also be involved. One literature synthesis reported liver 21%, bone 14%, and lung 12%, but these estimates are referral- and classification-sensitive. (lamar2018epithelioidhemangioendotheliomaas pages 1-3)

EHE arises from endothelial-lineage cells within connective/vascular tissue. At the subcellular level, the defining dysfunction is nuclear localization of fusion coactivators and altered chromatin/transcriptional complexes. Disease may be unifocal, multifocal within one organ/compartment, or systemic; there is no characteristic lateralization. (NCT06408441 chunk 1)

8. Temporal development and natural history

Onset is generally insidious. There is no universal AJCC stage system specific to EHE; practical grouping is localized/unifocal, locoregional or multifocal single-compartment, and systemic metastatic disease. The disease may remain stable untreated, slowly progress over years, spontaneously regress rarely, or become rapidly fatal. (NCT06408441 chunk 1)

Because a radiographic change can be slow and conventional therapy has toxicity, experts often use an initial observation interval for asymptomatic advanced disease. Symptomatic deterioration, objective progression, anemia, or new serosal involvement/effusion constitutes an important window to reconsider systemic therapy. Prospective validation is ongoing in EURACAN’s registry, which mandates six-monthly updates when no event occurs. (NCT06408441 chunk 1)

9. Inheritance and population epidemiology

The best recent disease-specific estimate cited by the EURACAN registry is an incidence of 0.038 per 100,000 person-years—approximately 0.38 per million/year. Prevalence has been described as below one per million, although estimates are uncertain because of historical misclassification and long survival in indolent cases. (wiegand2021malignantvasculartumors pages 7-9, NCT06408441 chunk 1)

Typical age is approximately 35–40 years, with a wide 8–90-year range. A female predominance around 1.5:1 has been reported, although site-specific cohorts differ. No reproducible ethnic, geographic, or founder distribution is established. (seavey2022unravelingthebiology pages 2-4, lamar2018epithelioidhemangioendotheliomaas pages 1-3)

EHE is not ordinarily inherited: no autosomal-dominant, recessive, X-linked, mitochondrial, or polygenic pattern is established. Thus penetrance, carrier frequency, prenatal diagnosis, cascade testing, and preimplantation testing are generally not applicable.

10. Diagnostics

Recommended workflow

1. Imaging and staging: contrast-enhanced CT of chest/abdomen/pelvis; liver MRI for hepatic disease; MRI for soft-tissue/bone disease; targeted bone imaging or PET/CT when clinically indicated. Pulmonary EHE often presents as multiple nodules and/or pleural thickening. Hepatic EHE commonly presents as multifocal peripheral nodules, sometimes calcified, with peripheral enhancement and the radiologic “lollipop sign.” MRI generally shows low/intermediate T1 and high T2 signal with enhancement. (lamar2018epithelioidhemangioendotheliomaas pages 3-5, wiegand2021malignantvasculartumors pages 7-9)
2. Core biopsy/excision reviewed by an expert sarcoma pathologist. Histology typically shows cords, strands, or nests of epithelioid endothelial cells in dense myxohyaline stroma; intracytoplasmic lumina/vacuoles may represent primitive vascular differentiation. (seavey2022unravelingthebiology pages 2-4)
3. Immunohistochemistry: CD31/PECAM1 and ERG are strong endothelial markers; CD34 and FLI1 are commonly supportive. Nuclear CAMTA1 is a useful surrogate for WWTR1::CAMTA1. TFE3 staining is insufficiently specific and should be molecularly verified. (lamar2018epithelioidhemangioendotheliomaas pages 3-5, wiegand2021malignantvasculartumors pages 7-9, ong2021genefusionsin pages 8-10)
4. Molecular confirmation: fusion FISH, targeted RNA sequencing, anchored multiplex RNA assay, RT-PCR when breakpoints/transcripts are covered, or whole-transcriptome sequencing. A negative CAMTA1/FISH assay in morphologically convincing disease should prompt an RNA-based fusion assay rather than automatically excluding EHE. (seavey2022unravelingthebiology pages 2-4)

The NCI trametinib trial required histologically confirmed disease and tissue for fusion FISH, illustrating real-world integration of molecular confirmation into prospective research. (NCT03148275 chunk 2)

Differential diagnosis

Important alternatives are epithelioid angiosarcoma, epithelioid hemangioma, pseudomyogenic hemangioendothelioma, metastatic carcinoma, melanoma, myoepithelial neoplasm, and other epithelioid sarcomas. Marked atypia, destructive vasoformation, brisk mitoses, and necrosis favor angiosarcoma; keratins alone cannot establish carcinoma because vascular tumors may show focal epithelial-marker expression. Fusion confirmation is decisive in difficult cases. (lamar2018epithelioidhemangioendotheliomaas pages 3-5, seavey2022unravelingthebiology pages 2-4)

Routine blood tests are nonspecific; CBC, liver/renal function, inflammatory indices, hemoglobin, and fibrinogen are useful for burden, safety, and longitudinal assessment. GDF-15, CTGF, CRP, and ESR remain investigational. There is no population, newborn, carrier, or hereditary-family screening program. Liquid biopsy, WES/WGS, CMA, karyotyping, mitochondrial testing, and repeat-expansion testing are not routine first-line diagnostics; RNA-based fusion detection is generally more directly informative.

11. Outcome and prognosis

Clinical outcome is heterogeneous. Review-level estimates include median overall survival around 75 months and 1-, 3-, and 5-year survival of 83.4%, 55.7%, and 41.1%, respectively; these pooled historical figures should not be treated as individualized predictions. Reported 5-year survival differs by compartment—approximately 87% for isolated soft tissue, 65% with liver involvement, and 45% with lung involvement. (lamar2018epithelioidhemangioendotheliomaas pages 3-5, lamar2018epithelioidhemangioendotheliomaas pages 5-7, seavey2022unravelingthebiology pages 2-4)

In one risk synthesis, tumors >3 cm and >3 mitoses per high-power field were associated with 5-year survival of 59%, versus 100% without those features. Recurrence after treatment was approximately 15%, and regional metastasis 20–30%, although estimates vary by site and cohort. (lamar2018epithelioidhemangioendotheliomaas pages 3-5)

The most clinically persuasive adverse pattern is serosal/pleural or peritoneal involvement, especially effusion, systemic symptom deterioration, and anemia; prospective confirmation remains pending. Other reported adverse associations include older age, male sex, pulmonary or multiorgan disease, larger size, and higher mitotic activity. (wiegand2021malignantvasculartumors pages 7-9, NCT06408441 chunk 1)

Morbidity includes chronic pain, dyspnea, effusions, impaired mobility/fracture, liver dysfunction, repeated imaging and procedures, treatment toxicity, and uncertainty from an unpredictable course. Recovery is plausible after complete local treatment, but disseminated disease is usually chronic and requires long-term surveillance.

12. Treatment and real-world implementation

Strategy

• Localized resectable disease: complete surgery is preferred; expected cure is approximately 70–80% in the EURACAN protocol summary. There is no proven routine adjuvant systemic therapy or radiotherapy. (NCT06408441 chunk 1)
• Asymptomatic stable advanced disease: active surveillance is often preferred to avoid overtreatment.
• Progressive, symptomatic, organ-threatening, or serosa-involving disease: systemic treatment and/or site-directed intervention should be decided by a multidisciplinary sarcoma center.
• Hepatic disease: resection, transplantation, ablation, or embolization may be considered in selected patients; extrahepatic disease does not automatically preclude transplantation in all historical series, but selection is highly specialized. (lamar2018epithelioidhemangioendotheliomaas pages 5-7)
• Radiotherapy: may provide local control or palliation in selected unresectable, painful, or osseous lesions; evidence is retrospective.

Systemic therapies

Sirolimus/other mTOR inhibition. Sirolimus has the strongest recurrent disease-specific activity signal and is often regarded by experts as a preferred systemic option for progressive EHE, particularly without severe serosal effusion. It is off-label in many jurisdictions. The 2024 PDX study found an in-vitro IC50 of 0.03 ± 0.03 μmol/L for sirolimus versus 0.10 ± 0.04 μmol/L for doxorubicin and superior experimental antitumor activity; this comparison is preclinical and cannot establish clinical superiority. (stacchiotti2024gdf15predictsepithelioid pages 9-9, stacchiotti2024gdf15predictsepithelioid pages 1-2)

Trametinib. The mechanistic rationale is CTGF–RAS–MAPK dependence. NCT03148275/SARC033 was a completed, single-arm phase II trial of oral trametinib in 44 patients with unresectable/metastatic EHE; primary outcome was RECIST 1.1 response, with PFS, OS, toxicity, PROMIS measures, CTGF, inflammatory markers, fusion status, and MAPK activity assessed. Registry results were first posted November 26, 2024; because exact efficacy values were not captured in the retrieved evidence, they are not inferred here. (NCT03148275 chunk 1, NCT03148275 chunk 2)

Conventional chemotherapy. Anthracycline-based and other cytotoxic regimens generally show marginal activity and are not interchangeable with angiosarcoma treatment. Doxorubicin, taxanes, carboplatin, and other sarcoma regimens may still be considered in exceptional rapidly progressive cases, but expectations should be modest. (lamar2018epithelioidhemangioendotheliomaas pages 7-8, NCT06408441 chunk 1)

Antiangiogenic/targeted agents. Pazopanib and sorafenib have produced prolonged stable disease or occasional responses in reports and small series, but no universally accepted standard exists. Immunotherapy, gene therapy, RNA therapy, CAR-T/cell therapy, and fusion-directed editing remain experimental without established efficacy.

Eribulin. NCT03331250 is a pilot, open-label phase II study of 13 total angiosarcoma/EHE participants, with no more than five EHE patients planned. Eribulin inhibits microtubule function; disease-specific conclusions are necessarily limited by the tiny EHE subgroup. (NCT03331250 chunk 1)

Current research infrastructure. The prospective EURACAN registry (NCT06408441) began enrolling molecularly confirmed new cases in December 2023, targeting 100 participants and longitudinally recording symptoms, pain, blood tests, serosal disease, imaging, surveillance, and treatment outcomes. (NCT06408441 chunk 1)

Suggested NCIT intervention concepts include Surgical Resection, Active Surveillance, Liver Transplantation, Radiation Therapy, Ablation, Sirolimus, Trametinib, Pazopanib, Sorafenib, Eribulin, and Doxorubicin; exact NCIT identifiers should be resolved against the current thesaurus. Pharmacogenomic dosing rules specific to EHE are not established.

13. Prevention

There is no evidence-based primary prevention because no modifiable cause is known. No vaccine, prophylactic drug, population screening test, hereditary cascade program, or validated high-risk population exists. Secondary prevention is therefore limited to prompt expert evaluation of suspicious lesions and accurate fusion testing. Tertiary prevention includes surveillance, early management of effusions and organ compromise, pain control, fracture prevention/rehabilitation for bone disease, nutrition support, and avoidance of unnecessary toxic treatment in stable disease.

14. Natural disease in other species

Naturally occurring vascular tumors called hemangioendothelioma have been described in veterinary pathology, but the retrieved evidence does not establish a spontaneous nonhuman disease molecularly homologous to human WWTR1::CAMTA1 EHE. No breed association, VBO term, cross-species transmission, or zoonotic potential is established. Orthologous Wwtr1, Camta1, Yap1, and Tfe3 genes are conserved, but conservation alone does not prove natural EHE equivalence.

15. Model organisms and experimental systems

1. Conditional knock-in mouse (Mus musculus; NCBI Taxon 10090): Wwtr1-Camta1 expressed from the endogenous locus after Cre activation produces tumors clinically, histologically, immunohistochemically, genetically, and transcriptionally resembling human EHE. No other tumor type was observed, demonstrating fusion sufficiency and tissue specificity. The abstract states that the tumors were “indistinguishable from human EHE clinically, histologically, immunohistochemically, and genetically.” (published March 2021; DOI: https://doi.org/10.1101/gad.348220.120). (seavey2022unravelingthebiology pages 7-8)
2. Tet-Off mouse: postnatal fusion expression creates hyperplastic pulmonary lesions; doxycycline re-administration causes involution, supporting continued oncogene dependence. Embryonic expression is lethal, limiting developmental modeling. (seavey2022unravelingthebiology pages 7-8)
3. NIH3T3/TAZ-CAMTA1 cells and xenografts: reproduce anchorage-independent growth and enabled identification of CTGF–integrin αIIbβ3–RAS–MAPK signaling and trametinib sensitivity. Limitation: fibroblast-derived transformed cells are not native human EHE endothelium. (ma2022thetazcamta1fusion pages 1-2)
4. 2024 EHE PDX and paired cell line: derived from aggressive WWTR1::CAMTA1-positive disease and retained original histomorphology plus genomic/transcriptomic profiles. This model enabled sirolimus–doxorubicin comparison and GDF-15 studies. Limitation: one aggressive donor cannot represent the full clinical spectrum. (stacchiotti2024gdf15predictsepithelioid pages 1-2)

No mature zebrafish, Drosophila, organoid, or iPSC model was supported by the retrieved evidence. The mouse and PDX systems are currently the most disease-faithful preclinical resources.

Expert interpretation and evidence gaps

EHE should be treated as a fusion-defined YAP/TAZ-driven sarcoma, not as a low-grade angiosarcoma. Molecular confirmation is central because morphology and clinical tempo overlap with benign vascular tumors, carcinoma, and aggressive angiosarcoma. Surgery can cure localized disease; observation is often appropriate for stable asymptomatic metastatic disease; and mTOR inhibition currently has the strongest recurring disease-specific clinical signal, while MEK and direct YAP/TAZ–TEAD or chromatin-complex inhibition remain rational investigational strategies. (stacchiotti2024gdf15predictsepithelioid pages 1-2, NCT06408441 chunk 1, ma2022thetazcamta1fusion pages 1-2)

The most important unresolved issues are prospective natural-history stratification, validated response criteria for very slow-growing disease, treatment efficacy in serosal/effusion-positive EHE, validation of GDF-15 and CTGF, and molecular distinction of YAP1::TFE3 tumors. The EURACAN registry directly addresses several of these gaps, but its completion is projected for 2033. (NCT06408441 chunk 1)

References

1. (NCT06408441 chunk 1): Annalisa Trama. The Epithelioid Hemangioendothelioma Registry of the European Reference Network on Rare Adult Solid Cancers (EURACAN). Fondazione IRCCS Istituto Nazionale dei Tumori, Milano. 2023. ClinicalTrials.gov Identifier: NCT06408441

2. (stacchiotti2024gdf15predictsepithelioid pages 1-2): Silvia Stacchiotti, Silvia Martini, Sandro Pasquali, Anna M. Frezza, Alessia Beretta, Stefano Percio, Mara Lecchi, Monica Tortoreto, Marta Barisella, Paola Collini, Gian Paolo Dagrada, Alessandra Merlini, Paul H. Huang, Andrew Jenks, Robin L. Jones, William D. Tap, Matilde Ingrosso, Carlo Morosi, Silvia Brich, Claudia Giani, Paolo Verderio, Paolo G. Casali, Hugh Leonard, Alessandro Gronchi, Valentina Zuco, and Nadia Zaffaroni. Gdf-15 predicts epithelioid hemangioendothelioma aggressiveness and is downregulated by sirolimus through atf4/atf5 suppression. Sep 2024. URL: https://doi.org/10.1158/1078-0432.ccr-23-3991, doi:10.1158/1078-0432.ccr-23-3991. This article has 13 citations and is from a highest quality peer-reviewed journal.

3. (seavey2022unravelingthebiology pages 2-4): Caleb Seavey, Ajaybabu Pobbati, and Brian Rubin. Unraveling the biology of epithelioid hemangioendothelioma, a taz–camta1 fusion driven sarcoma. Cancers, 14:2980, Jun 2022. URL: https://doi.org/10.3390/cancers14122980, doi:10.3390/cancers14122980. This article has 22 citations.

4. (lamar2018epithelioidhemangioendotheliomaas pages 1-3): John M. Lamar, Vijeyaluxmy Motilal Nehru, and Guy Weinberg. Epithelioid hemangioendothelioma as a model of yap/taz-driven cancer: insights from a rare fusion sarcoma. Cancers, 10:229, Jul 2018. URL: https://doi.org/10.3390/cancers10070229, doi:10.3390/cancers10070229. This article has 47 citations.

5. (lamar2018epithelioidhemangioendotheliomaas pages 5-7): John M. Lamar, Vijeyaluxmy Motilal Nehru, and Guy Weinberg. Epithelioid hemangioendothelioma as a model of yap/taz-driven cancer: insights from a rare fusion sarcoma. Cancers, 10:229, Jul 2018. URL: https://doi.org/10.3390/cancers10070229, doi:10.3390/cancers10070229. This article has 47 citations.

6. (lamar2018epithelioidhemangioendotheliomaas pages 3-5): John M. Lamar, Vijeyaluxmy Motilal Nehru, and Guy Weinberg. Epithelioid hemangioendothelioma as a model of yap/taz-driven cancer: insights from a rare fusion sarcoma. Cancers, 10:229, Jul 2018. URL: https://doi.org/10.3390/cancers10070229, doi:10.3390/cancers10070229. This article has 47 citations.

7. (seavey2022unravelingthebiology pages 7-8): Caleb Seavey, Ajaybabu Pobbati, and Brian Rubin. Unraveling the biology of epithelioid hemangioendothelioma, a taz–camta1 fusion driven sarcoma. Cancers, 14:2980, Jun 2022. URL: https://doi.org/10.3390/cancers14122980, doi:10.3390/cancers14122980. This article has 22 citations.

8. (ong2021genefusionsin pages 13-13): Sheena L. M. Ong, Karoly Szuhai, and Judith V.M.G. Bovée. Gene fusions in vascular tumors and their underlying molecular mechanisms. Expert Review of Molecular Diagnostics, 21:897-909, Aug 2021. URL: https://doi.org/10.1080/14737159.2021.1950533, doi:10.1080/14737159.2021.1950533. This article has 14 citations and is from a peer-reviewed journal.

9. (stacchiotti2024gdf15predictsepithelioid pages 9-9): Silvia Stacchiotti, Silvia Martini, Sandro Pasquali, Anna M. Frezza, Alessia Beretta, Stefano Percio, Mara Lecchi, Monica Tortoreto, Marta Barisella, Paola Collini, Gian Paolo Dagrada, Alessandra Merlini, Paul H. Huang, Andrew Jenks, Robin L. Jones, William D. Tap, Matilde Ingrosso, Carlo Morosi, Silvia Brich, Claudia Giani, Paolo Verderio, Paolo G. Casali, Hugh Leonard, Alessandro Gronchi, Valentina Zuco, and Nadia Zaffaroni. Gdf-15 predicts epithelioid hemangioendothelioma aggressiveness and is downregulated by sirolimus through atf4/atf5 suppression. Sep 2024. URL: https://doi.org/10.1158/1078-0432.ccr-23-3991, doi:10.1158/1078-0432.ccr-23-3991. This article has 13 citations and is from a highest quality peer-reviewed journal.

10. (lamar2018epithelioidhemangioendotheliomaas pages 7-8): John M. Lamar, Vijeyaluxmy Motilal Nehru, and Guy Weinberg. Epithelioid hemangioendothelioma as a model of yap/taz-driven cancer: insights from a rare fusion sarcoma. Cancers, 10:229, Jul 2018. URL: https://doi.org/10.3390/cancers10070229, doi:10.3390/cancers10070229. This article has 47 citations.

11. (NCT03148275 chunk 3): Trametinib in Treating Patients With Epithelioid Hemangioendothelioma That is Metastatic, Locally Advanced, or Cannot Be Removed by Surgery. National Cancer Institute (NCI). 2017. ClinicalTrials.gov Identifier: NCT03148275

12. (stacchiotti2024gdf15predictsepithelioid pages 11-12): Silvia Stacchiotti, Silvia Martini, Sandro Pasquali, Anna M. Frezza, Alessia Beretta, Stefano Percio, Mara Lecchi, Monica Tortoreto, Marta Barisella, Paola Collini, Gian Paolo Dagrada, Alessandra Merlini, Paul H. Huang, Andrew Jenks, Robin L. Jones, William D. Tap, Matilde Ingrosso, Carlo Morosi, Silvia Brich, Claudia Giani, Paolo Verderio, Paolo G. Casali, Hugh Leonard, Alessandro Gronchi, Valentina Zuco, and Nadia Zaffaroni. Gdf-15 predicts epithelioid hemangioendothelioma aggressiveness and is downregulated by sirolimus through atf4/atf5 suppression. Sep 2024. URL: https://doi.org/10.1158/1078-0432.ccr-23-3991, doi:10.1158/1078-0432.ccr-23-3991. This article has 13 citations and is from a highest quality peer-reviewed journal.

13. (OpenTargets Search: epithelioid hemangioendothelioma): Open Targets Query (epithelioid hemangioendothelioma, 10 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.

14. (ma2022thetazcamta1fusion pages 1-2): Shuang Ma, Ryan Kanai, Ajaybabu V. Pobbati, Shuo Li, Kepeng Che, Caleb N. Seavey, Andrea Hallett, Ashley Burtscher, John M. Lamar, and Brian P. Rubin. The taz-camta1 fusion protein promotes tumorigenesis via connective tissue growth factor and ras–mapk signaling in epithelioid hemangioendothelioma. Clinical Cancer Research, 28:3116-3126, Apr 2022. URL: https://doi.org/10.1158/1078-0432.ccr-22-0421, doi:10.1158/1078-0432.ccr-22-0421. This article has 37 citations and is from a highest quality peer-reviewed journal.

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17. (wiegand2021malignantvasculartumors pages 7-9): Susanne Wiegand, Andreas Dietz, and Gunnar Wichmann. Malignant vascular tumors of the head and neck—which type of therapy works best? Cancers, 13:6201, Dec 2021. URL: https://doi.org/10.3390/cancers13246201, doi:10.3390/cancers13246201. This article has 16 citations.

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19. (NCT03331250 chunk 1): Gregory Cote. Eribulin in Angiosarcoma and Epithelioid Hemangioendothelioma (EHE). Massachusetts General Hospital. 2018. ClinicalTrials.gov Identifier: NCT03331250

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