Neurothekeoma With PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M Genetic Alterations.
Journal
The American Journal of dermatopathology
ISSN: 1533-0311
Titre abrégé: Am J Dermatopathol
Pays: United States
ID NLM: 7911005
Informations de publication
Date de publication:
01 Dec 2022
01 Dec 2022
Historique:
pubmed:
9
9
2022
medline:
22
11
2022
entrez:
8
9
2022
Statut:
ppublish
Résumé
Neurothekeoma, a lesion of possible fibrohistiocytic origin, is a rare, benign, superficial soft tissue tumor, histologically subclassified in 3 types: myxoid, cellular, or mixed. It clinically presents as a solitary, pink to brown nodule, ranging from 0.3 to 2.0 cm. Four point mutations (PI3K w552*, ALK P1469S, SMO G461S, and ERBB3 L77M) were identified by next-generation sequencing of a neurothekeoma presenting in the left inner thigh of a 53-year-old man. We highlight novel genetic alterations (SMO G461S and ERBB3 L77M) and previously known mutations (PI3KCA w552* and ALK P1469S) that play a role in other pathogenic pathways, but to the best of our knowledge, these have not yet been reported in neurothekeoma.
Identifiants
pubmed: 36075574
doi: 10.1097/DAD.0000000000002292
pii: 00000372-202212000-00019
doi:
Substances chimiques
Phosphatidylinositol 3-Kinases
EC 2.7.1.-
Receptor Protein-Tyrosine Kinases
EC 2.7.10.1
SMO protein, human
0
Smoothened Receptor
0
ERBB3 protein, human
EC 2.7.10.1
Receptor, ErbB-3
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
958-960Informations de copyright
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflicts of interest.
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