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.

Molecular classification of soft tissue sarcomas for adequate diagnosis: A study on the northeast population of Morocco

“…The identification of fusion transcripts not only supports the diagnosis and classification of STS, but are particularly useful in the differential diagnosis of patients with an uncertain or unspecific morphology [ 44 ]. Certain routine techniques can be an effective aid to pathologists in the diagnosis of such neoplasms [ 45 ].…”

Diagnostic challenges in the gray-zone lesions of fine-needle aspiration cytology

“…Many of the soft-tissue tumors are characterized by highly specific translocations and amplifications. [ 22 ] Molecular advances helped in the development of useful surrogate IHC markers of molecular changes. [ 23 ] ICC, FISH, and sequencing-based methods can be excellent ancillary diagnostic modalities.…”

Genomic-Destabilization-Associated Mutagenesis and Clonal Evolution of Cells with Mutations in Tumor-Suppressor Genes

“…Unlike aging-associated cancers, infantile tumors often develop with very specific chromosomal translocations but without typical genomic instabilities, unlike many aging-associated cancers [83,84,85]. These tumors usually exhibit broad alteration in epigenetic regulation status [86,87].…”