Genetic approaches to sarcoma diagnosis

Bone and soft-tissue sarcomas are diagnostically challenging. Increasing recognition of the specific genetic and chromosomal abnormalities inherent in these tumors and the growing use of cytogenetic and molecular genetic procedures have significantly improved the accuracy of sarcoma diagnosis and provided valuable information on the histopathogenesis of these neoplasms. This article discusses the advantages and limitations of three such approaches - conventional cytogenetic analysis, molecular cytogenetic analysis or fluorescence in situ hybridization, and reverse transcription polymerase chain reaction analysis - and which testing method may be most suitable for different clinical scenarios.