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 language | English |
|---|---|
| Pages (from-to) | 60036-60045 |
| Number of pages | 10 |
| Journal | Oncotarget |
| Volume | 8 |
| Issue number | 36 |
| DOIs | |
| Publication status | Published - Sep 1 2017 |
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Identification of SRF-E2F1 fusion transcript in EWSR-negative myoepithelioma of the soft tissue. / Urbini, Milena; Astolfi, Annalisa; Indio, Valentina; Tarantino, Giuseppe; Serravalle, Salvatore; Saponara, Maristella; Nannini, Margherita; Gronchi, Alessandro; Fiore, Marco; Maestro, Roberta; Brenca, Monica; Dei Tos, Angelo Paolo; Dagrada, Gian Paolo; Negri, Tiziana; Pilotti, Silvana; Casali, Paolo Giovanni; Biasco, Guido; Pession, Andrea; Stacchiotti, Silvia; Pantaleo, Maria Abbondanza.
In: Oncotarget, Vol. 8, No. 36, 01.09.2017, p. 60036-60045.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Identification of SRF-E2F1 fusion transcript in EWSR-negative myoepithelioma of the soft tissue
AU - Urbini, Milena
AU - Astolfi, Annalisa
AU - Indio, Valentina
AU - Tarantino, Giuseppe
AU - Serravalle, Salvatore
AU - Saponara, Maristella
AU - Nannini, Margherita
AU - Gronchi, Alessandro
AU - Fiore, Marco
AU - Maestro, Roberta
AU - Brenca, Monica
AU - Dei Tos, Angelo Paolo
AU - Dagrada, Gian Paolo
AU - Negri, Tiziana
AU - Pilotti, Silvana
AU - Casali, Paolo Giovanni
AU - Biasco, Guido
AU - Pession, Andrea
AU - Stacchiotti, Silvia
AU - Pantaleo, Maria Abbondanza
PY - 2017/9/1
Y1 - 2017/9/1
N2 - 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.
AB - 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.
KW - Journal Article
U2 - 10.18632/oncotarget.17958
DO - 10.18632/oncotarget.17958
M3 - Article
VL - 8
SP - 60036
EP - 60045
JO - Oncotarget
JF - Oncotarget
SN - 1949-2553
IS - 36
ER -