Identification of SRF-E2F1 fusion transcript in EWSR-negative myoepithelioma of the soft tissue

Milena Urbini, Annalisa Astolfi, Valentina Indio, Giuseppe Tarantino, Salvatore Serravalle, Maristella Saponara, Margherita Nannini, Alessandro Gronchi, Marco Fiore, Roberta Maestro, Monica Brenca, Angelo Paolo Dei Tos, Gian Paolo Dagrada, Tiziana Negri, Silvana Pilotti, Paolo Giovanni Casali, Guido Biasco, Andrea Pession, Silvia Stacchiotti, Maria Abbondanza Pantaleo

Research output: Contribution to journalArticlepeer-review

Abstract

Myoepithelial neoplasms (MN) are rare and not well-circumstanced entities displaying a heterogeneous spectrum of genetic abnormalities, including EWSR1, FUS and PLAG1 rearrangements. However, in the remaining MN no other fusion gene has been described and knowledge concerning secondary acquired molecular alterations is still poor. Therefore, we screened 5 cases of MN of the soft tissue by RNA sequencing with the aim of identifying novel fusion transcripts. A novel SRF-E2F1 fusion was detected in two cases: one was negative for other fusions while the other showed also the presence of FUS-KLF17. The fusion was validated through independent techniques and, in both cases, SRF-E2F1 was detected only in a subclone of the tumoral mass. SRF-E2F1 maintained the coding frame, thus leading to the translation of a chimeric protein containing the DNA-binding domain of SRF and the trans-activation domain of E2F1. Moreover, ectopical expression of SRF-E2F1 demonstrated that the chimeric transcript is functionally active and could affect tumor growth. Occurrence in two cases and biological relevance of the two genes involved suggest that the SRF-E2F1 fusion might become a helpful diagnostic tool. Further biologic studies are needed to better assess its role in MN biology.

Original languageEnglish
Pages (from-to)60036-60045
Number of pages10
JournalOncotarget
Volume8
Issue number36
DOIs
Publication statusPublished - Sep 1 2017

Keywords

  • Journal Article

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