Cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion: A case report emphasizing early detection.
FUS-TFCP2
TCFP2
cutaneous rhabdomyosarcoma
epithelioid and spindle cell rhabdomyosarcoma
Journal
Journal of cutaneous pathology
ISSN: 1600-0560
Titre abrégé: J Cutan Pathol
Pays: United States
ID NLM: 0425124
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
revised:
13
08
2023
received:
25
03
2023
accepted:
21
08
2023
medline:
10
11
2023
pubmed:
6
9
2023
entrez:
5
9
2023
Statut:
ppublish
Résumé
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.
Substances chimiques
Transcription Factors
0
Biomarkers, Tumor
0
TFCP2 protein, human
0
DNA-Binding Proteins
0
FUS protein, human
0
RNA-Binding Protein FUS
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1059-1064Informations de copyright
© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
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