SRF Fusions Other Than With RELA Expand the Molecular Definition of SRF-fused Perivascular Tumors.

摘要: Pericytic tumors encompass several entities sharing morphologic and immunohistochemical features. A subset of perivascular myoid associated with the SRF-RELA fusion gene was previously described. Herein, we report a series 13 belonging to this group, in which have identified new genes by RNA-sequencing, thus expanding molecular spectrum entity. All patients except 1 were children infants. The tumors, frequently located head (n=8), had mean size 38 mm (range 10 150 mm) mostly (n=9) well-circumscribed. Exploration follow-up data (ranging from 3 68 mo) confirmed benign behavior these tumors. These neoplasms presented morphologies, ranging patterns appearance. Tumor cells mitotic figures but without marked atypia. Some could mimic sarcoma. profiles pericytic differentiation expression smooth muscle actin h-caldesmon, as well frequent positivity for pan-cytokeratin. analysis expected gene, addition other genetic alterations, all involving SRF fused CITED1, CITED2, NFKBIE, or NCOA2. detection SRF-NCOA2 fusions spindle cell rhabdomyosarcoma infant has been described, representing risk misdiagnosis, although cases reported herein did not express MyoD1. Finally, clustering analyses that group SRF-fused forms distinct entity, different rhabdomyosarcomas infant,