1. Cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion: A case report emphasizing early detection.
- Author
-
Demirkesen C, Danyeli AE, Yıldız P, Ertekin SS, Yılmaz B, Karahan Sİ, and Bahrami A
- Subjects
- Female, Humans, Adult, Early Detection of Cancer, Transcription Factors metabolism, Biomarkers, Tumor genetics, DNA-Binding Proteins, RNA-Binding Protein FUS metabolism, Rhabdomyosarcoma diagnosis, Rhabdomyosarcoma genetics, Rhabdomyosarcoma chemistry, Bone Neoplasms
- Abstract
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., (© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2023
- Full Text
- View/download PDF