Survival-associated alternative splicing signatures in soft tissue sarcomas

摘要

Sarcomas, which are a group of connective tissue tumors, are typically categorized into two broad groups: soft-tissue sarcomas and bone sarcomas. According to their morphological and molecular genetic features, they can be further classified as more than 70 subtypes with variable pathologic features and clinical presentations ( ). Despite the diversity in classification, sarcomas account for only about 1–2% of tumors in adults, 10% in adolescents and young adults (15–29 years old), and 6–15% in pediatric patients (<15 years old) ( ). Precisely because of their rarity and marked heterogeneity, sarcomas are often misdiagnosed and misrecognized initially. Furthermore, the specific pathogenesis of many sarcoma types remains largely unclear. With the advances in chemotherapy, surgery, and systemic therapy over the past four decades, the overall and event-free survival of patients with certain sarcoma types including Ewing sarcoma, rhabdomyosarcoma, and osteosarcoma has improved significantly ( - ). Nevertheless, the survival outcomes for other sarcomas, such as synovial sarcoma and alveolar soft part sarcoma remain barely satisfactory ( ). Emerging research on the pathogenesis of sarcomas therefore holds promise for finding new therapies and further improving overall survival and quality of life.