Key result
Targeted next generation sequencing of a rare mediastinal epithelioid angiosarcoma revealed a missense NRAS mutation, a TP53 mutation, and amplification of multiple genes including MYC.
Why the study?
Mediastinal angiosarcomas are exceedingly uncommon malignant mesenchymal neoplasms with a rare epithelioid morphologic predominance.
Case Report (n=1)
This is the first reported case of mediastinal epithelioid angiosarcoma to include molecular findings, demonstrating NRAS and TP53 mutations alongside MYC amplification.
May support molecular profiling in rare mediastinal angiosarcomas; hypothesis-generating pending prospective validation.
Angiosarcoma is an uncommon malignant mesenchymal neoplasm, accounting for 1-2% of all sarcomas. More than half are cutaneous, with the remainder arising in the deep soft tissue, breast, bone or viscera, particularly the liver, spleen and heart. Mediastinal angiosarcomas are exceedingly uncommon. While epithelioid morphology is sometimes a minor component in conventional angiosarcoma, tumors with a predominance of epithelioid morphologic features are designated as epithelioid angiosarcoma (EAS). This is a report of a 58-year-old woman presenting with severe chest pain, accompanied by worsening dyspnea and dysphagia. Chest computed tomography (CT) revealed a large pericardial effusion and a bulky mediastinal mass. Biopsy revealed a malignant neoplasm with vascular differentiation consistent with high-grade EAS. By immunohistochemistry, epithelioid angiosarcomas express endothelial cell markers, such as CD31, CD34, ERG and FLI-1. A variable proportion express low molecular weight cytokeratin (CK), epithelial membrane antigen (EMA) and CD30. The use of molecular techniques has proven useful in the diagnosis of this rare neoplasm. Targeted next generation sequencing showed aberrations in multiple genes including NRAS, KRAS, MYC and TP53.
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Sanchez et al. (2023) conducted a case report in Mediastinal Epithelioid Angiosarcoma (n=1). Targeted next generation sequencing was evaluated on Molecular characterization of the tumor. Targeted next generation sequencing of a rare mediastinal epithelioid angiosarcoma revealed a missense NRAS mutation, a TP53 mutation, and amplification of multiple genes including MYC.
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