Cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion: A case report emphasizing early detection

Cuyan Demirkesen,Ayca Ersen Danyeli, Pelin Yildiz, Suemeyre Seda Ertekin, Berkhan Yilmaz, Suleyman Izzet Karahan,Armita Bahrami

Journal of cutaneous pathology(2023)

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摘要
Rhabdomyosarcoma with TFCP2 rearrangement is a recently identified malignant neoplasm characterized by immunohistochemical evidence of rhabdomyoblastic differentiation, keratin expression, upregulation of ALK, and an aggressive clinical course. This neoplasm has a tendency to affect craniofacial bones, with only a few reported cases of extra-osseous tumors. Here, we present a case of cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 35-year-old female. Notably, the tumor exhibited a pathologic spectrum, initially resembling sclerosing dermatitis at presentation but progressing into a high-grade malignant tumor within 8 months. The distinctive immunoprofile of this neoplasm highlights the importance of early molecular studies for diagnosis, even in the presence of low-grade cytomorphology. Early detection may offer an opportunity for timely resection before the tumor becomes unresectable.
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cutaneous rhabdomyosarcoma, epithelioid and spindle cell rhabdomyosarcoma, FUS-TFCP2, TCFP2
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