FET (encompassing both EWSR1 and FUS) fusions with genes from the CREB family (CREB1, ATF1, and CREM) are involved in a variety of neoplasms. Recently, FET::CREB fusions were recognized in a group of malignant epithelioid neoplasm with a striking
predilection to mesothelial-lined cavities and frequent cytokeratin immunoexpression.
Herein, we report a rare mesenchymal neoplasm with epithelioid morphology and nonspecific
immunoprofile harboring a FUS::CREM fusion arising in the oral tongue of a 53-year-old man. Histology showed a well-circumscribed
tumor composed of epithelioid cells with eosinopohilic or clear cytoplasm with sparse
stroma, accompanied by peripheral lymphoplasmacytic infiltrates. Immunohistochemically,
an extensive panel revealed only patchy expression of synaptophysin and weak-to-moderate
nuclear expression of TFE3, and negativity for other markers including cytokeratins,
epithelial membrane antigen, p63/p40, vimentin, S100, smooth muscle actin, CD34, desmin,
SOX10, glial fibrillary acidic protein, melan-A, HMB45, and CD68. A FUS::CREM gene fusion was detected by next generation sequencing at an outside institution,
and subsequent fluorescence in situ hybridization analysis confirmed the presence
of FUS gene rearrangement. The identification and analysis of additional cases should help
to clarify the nosologic status and the biologic potential of this tumor.
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Article info
Publication history
Published online: December 18, 2022
Accepted:
December 13,
2022
Received in revised form:
October 27,
2022
Received:
August 17,
2022
Identification
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