Sarcoma molecular testing: diagnosis and prognosis

Abstract

Methodologies employed in the rapidly developing field of soft tissue sarcoma molecular testing focus primarily on diagnosis using chromosomal translocations and the resulting fusion transcripts. Molecular prognostic testing holds promise in this complex group of rare mesenchymal malignancies, but results are preliminary and require further confirmation. Analysis of activating KIT mutations in gastrointestinal stromal tumors is currently being used in management of patient therapy.