CAMTA1 (Calmodulin Binding Transcription Activator 1)

In addition, this type of tumor is a low-grade malignancy, and rarely metastasizes to lymph nodes or distal sites. Skin metastasis of pseudomyogenic hemangioendothelioma is extremely rare.

Treatment with the MEK inhibitor trametinib was initiated, but the patient died within three months. This case underscores the diagnostic challenges of EHE due to its rarity and variable clinical presentation, which often delays diagnosis until advanced stages. The report highlights the aggressive nature of pleural EHE and lack of standardised treatments, emphasising the need for early recognition.

While many morphologic features of vascular lesions at this site are shared with those of extra-genital soft tissues, pathologists must be aware that these tumours may occur in the vulvovaginal area and display unconventional clinical profiles. As such, a broad differential for epithelioid and spindle cell neoplasms at this site is prudent.

Furthermore, next-generation sequencing and Sanger sequencing demonstrated a FOS::BCAR3 fusion. To the best of our knowledge, this is the first reported case of cellular EH involving the liver and featuring a novel FOS::BCAR3 fusion, thereby broadening the spectrum of clinicopathological and genetic characteristics in this entity.

These pathways also influence the tumor release of circulating cytokines, such as GDF-15 which is associated to patient outcomes. In this review we summarize advancements in the understanding of EHE biology that are closely associated with the EHE-specific translocations together with their implication for mechanisms that underpin EHE aggressiveness, with the final aim of highlighting EHE-related biomarkers and innovative therapeutic strategies.

The patient was followed up for 6 months and no recurrence was found. However, close follow-up is necessary in this case due to a positive surgical margin.

This is the largest series of EHE patients describing sequential systemic therapies. The role of systemic therapy in EHE in improving survival remains unclear and prospective studies with comparative arms are needed to add further insight into this chronic disease.

These findings confirmed a diagnosis of EH, illustrating its capacity to mimic malignancy. This case highlights the diagnostic value of integrating radio-genomic analysis and underscores the need for comprehensive workup to distinguish EH from epithelioid hemangioendothelioma, angiosarcoma, and Kaposi sarcoma, entities with distinct prognostic and therapeutic implications.

Precision treatment exploring targeted gene fusions (e.g., WWTR1-CAMTA1, YAP1-TFE3); research on the effects of Bartonella infection and EGFR overexpression on tumor progression; and the development of early diagnostic models based on radiomics.

Furthermore, the cultures served as a therapeutic platform to test the efficacy of TEAD inhibitors in vitro. Overall, the development of primary EHE cell cultures will aid in the mechanistic understanding of this sarcoma and serve as a model system to test new therapeutic approaches.