Ribonucleic Acid Sequencing Analysis of Intimal Sarcoma of the Large Blood Vessels

Intimal sarcoma is a rare vascular malignancy with a poor prognosis and no established treatment. This study aimed to identify clinicopathological and transcriptomic factors associated with disease progression to uncover potential therapeutic targets.

Ten patients with surgically resected intimal sarcoma were included. Ribonucleic acid (RNA) sequencing was performed on formalin-fixed, paraffin-embedded tumour samples, of which 8 passed quality control. Patients were stratified by the median overall survival of 17 months. Differentially expressed genes (DEGs) were identified and analysed using Gene Ontology (GO), Enrichr, and Gene Set Enrichment Analysis (GSEA). Immunohistochemistry was used to validate selected protein expression.

The primary tumour site was the pulmonary artery in 8 cases and the heart in 2 cases. The median survival was 17 months, with a 5-year survival rate of 13.3%. Twenty-eight DEGs (|logFC| > 2, P < 0.01) were identified, most of which were upregulated in poor-prognosis tumours. GO and Enrichr analyses revealed enrichment in ribosome-related processes, including cytoplasmic translation and ribosomal biogenesis. GSEA showed enrichment of MYC targets and oxidative phosphorylation; epithelial-mesenchymal transition was moderately enriched, and myogenesis was downregulated. Immunohistochemistry confirmed overexpression of RPS27 and RPL26 in poor-prognosis tumours.

Transcriptomic analysis revealed upregulation of ribosome-related genes in aggressive intimal sarcoma. Aberrant protein synthesis may contribute to poor prognosis and represent a novel therapeutic vulnerability.