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Molecular detection and targeting of EWSR1 fusion transcripts in soft tissue tumors
The Medical Oncology, 2013, 30(1): 412.
Molecular detection and targeting of EWSR1 fusion transcripts in soft tissue tumors
Authors: Cantile M, Marra L, Franco R, et al.
PMID: 23329308
PMID: 23329308
Abstract
Soft tissue tumors are a heterogeneous group of tumors, traditionally classified according to morphology and histogenesis. Molecularclassification divides sarcomas into two main categories: (a) sarcomas with specific genetic alterations and (b) sarcomas showing multiple complex karyotypic abnormalities without any specific pattern. Most chromosomal alterations are represented by translocations which are increasingly detected. The identification of fusion transcripts, in fact, not only support the diagnosis but also provides the basis for the development of new therapeutic strategies aimed at blocking aberrant activity of the chimeric proteins. One of the genes most susceptible to breakage/translocation in soft tissue tumors is represented by Ewing sarcoma breakpoint region 1 (EWSR1). This gene has a large number of fusion partners, mainly associated with the pathogenesis of Ewing's sarcoma but with other soft tissue tumors too. In this review, we illustrate the characteristics of this gene/protein, both in normal cellular physiology and in carcinogenesis. We describe the different fusionpartners of EWSR1, the molecular pathways in which is involved and the main molecular biology techniques for the identification of fusiontranscripts and for their inhibition.