Cytogenetics and molecular cytogenetics have contributed significantly to the study of the pathobiology of soft tissue tumors. Identification of recurrent chromosomal changes has resulted in the definition of an increasing number of tumor-related molecular changes and is fostering a continual refinement of the classification of these lesions. The recognition of distinctive rearrangements in tumor subsets is providing powerful tools to complement the histological diagnosis in a field in which pathological diagnosis and clinical management are often difficult, due to both the variety of tumor phenotypes and their relative rarity. In this respect, novel technical approaches such as real-time RT-PCR, and multiplex RT-PCR reactions for the detection of fusion products specific for different tumor types offer practical and cost-effective methods for complementing histological diagnosis.

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