Fine needle aspiration biopsy of epithelioid-mesenchymal neoplasm with PTCH1-GLI1 fusion: A case report.
aspiration biopsy
cytology
soft tissue sarcomas with GLI1
Journal
Diagnostic cytopathology
ISSN: 1097-0339
Titre abrégé: Diagn Cytopathol
Pays: United States
ID NLM: 8506895
Informations de publication
Date de publication:
Aug 2022
Aug 2022
Historique:
revised:
14
04
2022
received:
14
02
2022
accepted:
18
04
2022
pubmed:
7
5
2022
medline:
7
7
2022
entrez:
6
5
2022
Statut:
ppublish
Résumé
Mesenchymal tumors harboring GLI1 gene fusions are a rare new entity that typically occur in the head and neck region of young to middle aged adults, with a particular predilection for the tongue. We report herein a case of epithelioid mesenchymal tumor with PTCH1-GLI1 gene fusion of the right submental region in an 82-year-old male never smoker. Ultrasound-guided fine needle aspiration (FNA) with concomitant core needle biopsy was performed. Cytology smears revealed a hypercellular, monotonous aspirate comprised of epithelioid to plasmacytoid cells with round regular nuclei and moderate amounts of cytoplasm. There were admixed granulomata. The patient underwent surgical resection with limited neck dissection and subsequent pathologic examination with performed next generation sequencing confirmed the presence of epithelioid mesenchymal tumor with PTCH1-GLI1 gene fusion. To our knowledge, this is the first reported example of a mesenchymal tumor harboring GLI1 gene fusion initially evaluated by FNA.
Substances chimiques
GLI1 protein, human
0
Zinc Finger Protein GLI1
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
E223-E229Informations de copyright
© 2022 Wiley Periodicals LLC.
Références
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