The clinical impact of molecular techniques on diagnostic pathology of soft tissue and bone tumours

Abstract

Molecular techniques have become quite crucial for diagnostic histopathology. Their application in sarcomas, both in bone as well as in soft tissue, have been quite successful. Being sarcomas quite rare and diagnostically challenging, the use of ancillary molecular diagnostic tools is quite useful. Furthermore, thanks to the results of previous and ongoing research, specific genetic alterations are found to be strongly associated with several distinct mesenchymal lesions. Molecular techniques allow: 1. better disease definition and therefore more accurate diagnostics, 2. identification of molecular predictive and prognostic markers, 3. unravelling novel molecular targets for more specific therapeutic approach and eventual drug development. The pathologist has a crucial role: 1. in selecting the adequate materials for these analyses, 2. choosing the adequate technology for the given questions and 3. in integrating the results of these analyses with the clinico-pathological features to render a final diagnosis. Here we review the major applications of this approach and discuss its use and limits.