Genetic characterization of bone and soft tissue tumors.

Abstract

21 During the last 20 years, genetic analyses of bone and soft tissue tumors (BSTT) have revealed that most histopathologic entities investigated in sufficient detail are characterized by acquired, clonal chromosome aberrations. Many of these rearrangements are nonrandom and several of them are strongly associated with specific histo pathologic tumor subtypes. Cytogenetic studies using chromosome banding techniques have been an important first mapping step that has guided further efforts to identify mutations at the gene level by fluorescence in situ hybridization (FISH), reverse-transcriptase polymerase chain reaction (RT-PCR) and other molecular techniques. Chromosomal comparative genomic hybridization (CGH), and more recently CGH microarray techniques, have revealed many specific ampli cons in various sarcomas. The strong association between chromosome or gene rearrangements and tumor subtype has more and more been exploited to aid the diagnostic work. Less conclusive data are available as regards the role of genetic aberrations for disease progression, but there are reports indicating that some genetic changes may provide prognostically important information. Even less is known about the origin of chromosome mutations and the relation between genetic aberrations and abnormal cellular processes associated with tumorigenesis.