Molecular strategies for detecting chromosomal translocations in soft tissue tumors (review)

Abstract

Approximately one third of soft tissue tumors are characterized by chromosomal aberrations, in particular, translocations and amplifications, which appear to be highly specific. The identification of fusion transcripts not only supports the diagnosis, but provides the basis for the development of novel therapeutic strategies aimed at blocking the aberrant activity of chimeric proteins. Molecular biology, and in particular, cytogenetic and qualitative and quantitative polymerase chain reaction technologies, allow with high efficiency and specificity, the determination of specific fusion transcripts resulting from chromosomal translocations, as well as the analysis of gene amplifications. In this review, various molecular techniques that allow the identification of translocations and consequent fusion transcripts generated are discussed in the broad spectrum of soft tissue tumors.

Figure 1

Schematic representation of soft tissue tumors, grouped on the basis of cell line differentiation, with chromosomal translocations and chimeric proteins produced.

Figure 2

Different methods for gene translocation detection: (a) fluorescence in situ hybridization (FISH) (Vysis LSI CHOP Dual Color Break-apart Rearrangement Probe in a myxoid liposarcoma sample); (b) RT-PCR (fusion transcript of 195 bp in a myxoid liposarcoma sample); (c) real-time PCR (amplification curves associated to fusion transcripts in several myxoid liposarcoma samples).