Clinical Insights and Genetic Implications: "A Comprehensive Case Series of Two Siblings with Cohen Syndrome".

BACKGROUND

Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma, with the liver and lungs as the predominant primary sites. To date, no standard systemic therapy has been established for advanced EHE. This study aimed to evaluate the efficacy and safety of everolimus in patients with advanced, unresectable, and progressive EHE.

METHODS

This case series retrospectively included 11 patients with advanced, progressive EHE who received systemic therapy with everolimus at our hospital spanning a 3-year period. The clinical outcomes, including time to treatment failure (TTF), overall survival (OS), objective response rate (ORR), disease control rate (DCR), and adverse events (AEs), were analyzed. The median follow-up time was estimated using the reverse Kaplan-Meier method.

RESULTS

At the data cutoff (April 11, 2025), the median follow-up time was 21.9 months. The median TTF was 21.3 months, and median OS was not reached at the time of analysis. All 11 cases achieved stable disease (SD); the ORR was 0% (0/11), and the DCR was 100.0% (11/11). The most common AEs were mucositis accompanied by multiple oral ulcers (54.5%), which was limited to grade 1-2 severity. One patient (9.1%) experienced grade 3 upper gastrointestinal bleeding. Other AEs included interstitial pneumonia (27.3%), rash (18.2%), and thrombocytopenia (18.2%). No grade 4 or 5 AEs were observed.

CONCLUSION

Everolimus showed preliminary activity, primarily disease stabilisation, in this small retrospective case series of patients with advanced, unresectable, and progressive EHE. Further studies with larger cohorts are warranted to validate these findings.