Cutaneous rhabdomyosarcoma with <i>FUS::TFCP2</i> fusion: A case report emphasizing early detection

DEMİRKESEN C., ERŞEN DANYELİ A., YILDIZ P., Ertekin S. S., YILMAZ K. B., Karahan S. I., ...Daha Fazla

JOURNAL OF CUTANEOUS PATHOLOGY, cilt.50, sa.12, ss.1059-1064, 2023 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 12
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1111/cup.14526
  • Dergi Adı: JOURNAL OF CUTANEOUS PATHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Veterinary Science Database
  • Sayfa Sayıları: ss.1059-1064
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

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.