Recent advances in the diagnosis of soft tissue tumours

Soft tissue tumours are relatively rare, but are diagnostically challenging as they comprise a large spectrum of diagnostic entities. Substantial advances have been made in recent years in identifying the underlying recurrent chromosomal and genomic alterations in a significant subset of soft tissue tumours, and this continues to enrich our understanding of the biological mechanisms of tumour development and progression. Ongoing validation and integration of these findings into existing pathological-diagnostic algorithms has led to re- or subclassification of diagnostic categories and will continue to shape a more nuanced (and hopefully clinically relevant) tumour classification system in the future. This review provides a selective overview of recent diagnostic or conceptual advances in the categories of peripheral nerve sheath tumours, vascular and adipocytic tumours, round cell and myogenic sarcomas, and gastrointestinal stromal tumours, as well as their underlying molecular mechanisms, some of which have been translated successfully into useful immunohistochemical stains. A thorough and critical validation of newly identified diagnostic markers-acknowledging the fact that some genetic alterations may not necessarily be tumour-specific-and ongoing correlation with clinical and prognostic implications will be necessary in this regard.