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

作者：Cüyan Demirkesen, Ayça Erşen Danyeli, Pelin Yıldız, Sümeyre Seda Ertekin, Berkhan Yılmaz, Süleyman İzzet Karahan, Armita Bahrami · 发表于：Journal of Cutaneous Pathology · 年份：2023 · DOI：10.1111/cup.14526 · 被引用次数：10 · 研究领域：Sarcoma Diagnosis and Treatment、Bone Tumor Diagnosis and Treatments、Soft tissue tumor case studies

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.