Genetic profiling of soft tissue and bone tumors using SarcDBase

To streamline molecular profiling of tumor biopsies, we developed SarcDBase, an openly accessible tool that extracts and interprets clinically relevant genetic alterations from next-generation sequencing data. By automatically linking identified variants to curated, user-defined reference lists, SarcDBase minimizes the need for specialized expertise and reduces the burden of manual data processing. The platform delivers detailed molecular profiles, diagnostic insights and an intuitive interface for comprehensive interpretation. SarcDBase’s performance was evaluated in a heterogeneous cohort of 204 deep-sequenced bone and soft tissue tumors. In most cases (81%), its interpretation closely matched the curated post-sequencing diagnosis. Discrepancies mainly occurred in samples lacking diagnostically informative mutations. In some instances, SarcDBase flagged rare or unexpected alterations, including previously unreported gene fusions. This highlights SarcDBase’s dual potential as both an interrogative research tool and facilitator of molecular diagnostics, especially for reclassification of diagnostically challenging tumor types.