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Vismodegib-resistant basal cell carcinomas in basal cell nevus syndrome: Clinical approach and genetic analysis
- Source :
- JAAD Case Reports, 4(5), 408-11. Elsevier Inc., JAAD Case Reports
- Publication Year :
- 2018
- Publisher :
- Elsevier BV, 2018.
-
Abstract
- Basal cell nevus syndrome (BCNS, Gorlin syndrome) is a rare inherited disorder characterized by the development of multiple basal cell carcinomas (BCCs), odontogenic keratocysts, and palmar pits.1 BCC development is caused by sonic hedgehog pathway (SHH) activation caused by mutations in tumor suppressor gene patched 1 (PTCH1) or activating mutations in the oncogene smoothened (SMO).2 Because patients with BCNS carry a germ-line mutation in PTCH1, one additional somatic mutation (second hit) results in BCC development at a young age. In 2012, the US Food and Drug Administration approved vismodegib for treatment of locally advanced BCC (laBCC) or metastatic BCC (mBCC). Vismodegib prevents activation of the SHH pathway by binding and inhibiting the SMO protein.3 Vismodegib resistance, mainly caused by SMO mutations, is an important problem seen in laBCC or mBCC in patients with and without BCNS.4, 5 Vismodegib resistance in smaller BCCs, which are far more frequent in BCNS patients, is only described once.6 Here, vismodegib resistance of those smaller BCCs in a BCNS patient is genetically explained, and a clinical treatment approach is given.
- Subjects :
- 0301 basic medicine
Patched
SHH, sonic hedgehog pathway
Basal Cell Nevus Syndrome
Vismodegib
Case Report
Dermatology
smMIP, single-molecule molecular inversion probes
03 medical and health sciences
hedgehog pathway
0302 clinical medicine
Germline mutation
basal cell carcinoma
vismodegib
medicine
Basal cell carcinoma
laBCC, locally advanced BCC
basal cell nevus syndrome
BCC, basal cell carcinoma
business.industry
mBCC, metastatic BCC
medicine.disease
tumor resistance
Hedgehog signaling pathway
030104 developmental biology
PTCH1
030220 oncology & carcinogenesis
Cancer research
business
Smoothened
BCNS, basal cell nevus syndrome
medicine.drug
Subjects
Details
- ISSN :
- 23525126
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- JAAD Case Reports
- Accession number :
- edsair.doi.dedup.....17a9e4ff75fb9b9aa0e5b64c564ad5bd