Molecular pathology of soft tissue and bone tumors

Abstract

This chapter presents cytogenetic and molecular pathology of sarcomas, with emphasis on recurrent abnormalities that are characteristic features of individual cancer types. General concepts concerning biology, pathology, diagnostic techniques, and molecular diagnostic applications of cancers are presented in the beginning of the chapter. The second portion presents each of the major sarcoma types, in alphabetical order, with a specific structure: basic pathology, clinical features, molecular genetic pathology, and molecular diagnosis. Most of the tumors presented herein are soft tissue sarcomas, as few recurrent abnormalities have been established to have biologic and diagnostic significance in bone tumors. In contrast to other diseases and cancers presented in this textbook, sarcomas are more commonly associated with cytogenetic changes, as opposed to molecular changes. Nevertheless, a variety of approaches (e.g., classical cytogenetic analysis, fluorescence in situ hybridization, reverse-transcriptase polymerase chain reaction, immunohistochemistry) are presented, with strengths and weaknesses of each for clinical application in each tumor type, as appropriate.