Patched Homolog 1 (PTCH1) Mutation in a CIC-Rearranged Sarcoma: Lack of Response to the Smoothened (SMO) Vismodegib.
cic-rearranged sarcoma
ewing
ewing sarcoma family of tumors (esft)
hedgehog
next-generation sequencing
personalized medicine
ptch1
sarcoma
tyrosine kinase inhibitor
vismodegib
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
accepted:
27
01
2023
entrez:
27
2
2023
pubmed:
28
2
2023
medline:
28
2
2023
Statut:
epublish
Résumé
Next-generation sequencing (NGS) to identify potential targets is becoming a common approach to refractory tumors. We describe a patient with a CIC-DUX4 sarcoma that harbored a patched homolog 1 (PTCH1) mutation, a mutation not previously reported in so-called Ewing family tumors. PTCH1 is part of the hedgehog signaling pathway. Basal cell carcinomas (BCC) commonly have PTCH1 mutations, and those with PTCH1 mutations are often responsive to therapy with the hedgehog pathway inhibitor vismodegib. The effect of any mutation in a gene important in cell growth and division is likely dependent upon the background biochemistry of the cell. In the current case, vismodegib was not effective. This case is the first report of a PTCH1 mutation in an Ewing family tumor and demonstrates that the utility of targeting a potential mutation may depend upon many factors, including other mutations in the signaling pathway, and importantly, also the background biochemistry of the malignant cell that may prevent effective treatment targeting.
Identifiants
pubmed: 36843760
doi: 10.7759/cureus.34281
pmc: PMC9957587
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e34281Informations de copyright
Copyright © 2023, Wu et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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