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Molecular testing in metastatic basal cell carcinoma
Babette J A Verkouteren1, Marlies Wakkee2, Michel van Geel3
1Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands; GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, the Netherlands.
Genetic analysis confirmed a clonal relationship between primary basal cell carcinoma (BCC) and its metastases in most patients. Specific SMO mutations were identified, potentially explaining poor response to targeted therapies in metastatic BCC (mBCC).
Area of Science:
- Oncology
- Genetics
- Dermatology
Background:
- Metastatic basal cell carcinoma (mBCC) is rare and challenging to diagnose.
- Limited therapeutic options and poor response to targeted therapy characterize mBCC.
Purpose of the Study:
- To establish a clonal link between primary BCCs and their metastases.
- To identify hedgehog pathway-related mutations in mBCC.
Main Methods:
- Genetic analysis of 10 primary BCCs and their metastases.
- Utilized small molecule molecular inversion probes (smMIPs) and targeted next-generation sequencing.
- Analyzed genes including PTCH1, SMO, TP53, and TERT promoter.
Main Results:
- Identical gene mutations found in primary tumors and metastases in 80% of patients.
- Identified various mutations, including SMO mutations in four patients.
- All identified SMO mutations are associated with vismodegib resistance.
Conclusions:
- Molecular testing can determine the origin of BCC metastases.
- Genetic profiling may offer prognostic and therapeutic insights for mBCC.
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