Detection of EWS/FLI-1 fusion in non-Ewing soft tissue tumors.

Autor: Trancău IO; 'Foişor' Orthopedics Clinical Hospital, Bucharest, Romania ; 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania., Huică R; Immunology Department, 'Victor Babeş' National Institute of Pathology, Bucharest, Romania ; 'Carol Davila' University of Medicine and Pharmacy, Bucharest, Romania., Surcel M; Immunology Department, 'Victor Babeş' National Institute of Pathology, Bucharest, Romania., Munteanu A; Immunology Department, 'Victor Babeş' National Institute of Pathology, Bucharest, Romania., Ursaciuc C; Immunology Department, 'Victor Babeş' National Institute of Pathology, Bucharest, Romania.
Jazyk: angličtina
Zdroj: Journal of medicine and life [J Med Life] 2015 Jan-Mar; Vol. 8 (1), pp. 85-9.
Abstrakt: Objectives: EWS/FLI-1 fusion mainly appears in Ewing's sarcoma or the primitive neuroectodermal tumors and represents a genomic marker for these tumors. However, it can appear with lower frequency in other soft tissue tumors. The paper investigates the presence of EWS/FLI-1 fusion in clinically diagnosed sarcoma belonging to different non-Ewing connective tissue tumors in order to search for a possible new biomarker valuable for investigators.
Methodology: 20 patients with soft tissue tumors, who underwent surgery, were tested. Intra-operative samples of normal and tumor tissue were collected for histopathological diagnosis and genetics determinations. The patients' RNA from tumor and normal peritumoral tissue was extracted and EWS/FLI-1 fusion screened by quantitative real-time PCR. The relative expression of the fusion in the tumor sample was compared to the similar expression in normal tissue.
Results: The amplification in the threshold zone was shown by 5 samples (25%): 2 clear cell sarcoma, 1 fibrosarcoma, 1 malignant tumor of nerve sheath, 1 metastatic adenocarcinoma. We differentiated between the unspecific amplification and concluded that these are weak positive results.
Conclusions: Genomic investigation may establish the tumor malignancy and its possible affiliation earlier than histopathology. It can support the screening of EWS/FLI-1 fusion in a larger variety of clinically diagnosed soft tissue tumors.
Databáze: MEDLINE
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