Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature.
Epithelioid soft tissue neoplasm
Hedgehog signaling pathway
Oral cavity
PTCH1-GLI1 gene fusion
S100 protein
Soft palate
Journal
Head and neck pathology
ISSN: 1936-0568
Titre abrégé: Head Neck Pathol
Pays: United States
ID NLM: 101304010
Informations de publication
Date de publication:
Jun 2022
Jun 2022
Historique:
received:
04
08
2021
accepted:
06
10
2021
pubmed:
17
10
2021
medline:
15
6
2022
entrez:
16
10
2021
Statut:
ppublish
Résumé
GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid morphology and frequent S100 positivity. Typically, these multilobulated tumors consist of uniform epithelioid cells with bland nuclei and are organized into distinct nests and cords with conspicuously rich vasculature. We herein expand earlier findings by reporting a case of a 34-year-old female with an epithelioid mesenchymal tumor of the palate. The neoplastic cells stained positive for S100 protein and D2-40, whereas multiple other markers were negative. Genetic alterations were investigated by targeted RNA sequencing, and a PTCH1-GLI1 fusion was detected. Epithelioid mesenchymal tumors harboring a PTCH1-GLI1 fusion are vanishingly rare with only three cases reported so far. Due to the unique location in the mucosa of the soft palate adjacent to minor salivary glands, multilobulated growth, nested epithelioid morphology, focal clearing of the cytoplasm, and immunopositivity for S100 protein and D2-40, the differential diagnoses include primary salivary gland epithelial tumors, in particular myoepithelioma and myoepithelial carcinoma. Another differential diagnostic possibility is the ectomesenchymal chondromyxoid tumor. Useful diagnostic clues for tumors with a GLI1 rearrangement include a rich vascular network between the nests of neoplastic cells, tumor tissue bulging into vascular spaces, and absence of SOX10, GFAP and cytokeratin immunopositivity. Identifying areas with features of GLI1-rearranged tumors should trigger subsequent molecular confirmation. This is important for appropriate treatment measures as PTCH1-GLI1 positive mesenchymal epithelioid neoplasms have a propensity for locoregional lymph node and distant lung metastases.
Identifiants
pubmed: 34655412
doi: 10.1007/s12105-021-01388-4
pii: 10.1007/s12105-021-01388-4
pmc: PMC9187807
doi:
Substances chimiques
Biomarkers, Tumor
0
GLI1 protein, human
0
S100 Proteins
0
Zinc Finger Protein GLI1
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
621-630Subventions
Organisme : ministerstvo školství, mládeže a tělovýchovy
ID : SVV 22639
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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