Molecular testing in metastatic basal cell carcinoma

Babette J.A. Verkouteren*, Marlies Wakkee, Michel van Geel, Remco van Doorn, Véronique J. Winnepenninckx, Esther Korpershoek, Antien L. Mooyaart, An K.L. Reyners, Jorrit B. Terra, Maureen J.B. Aarts, Marie G.H.C. Reinders, Klara Mosterd

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)


Background: Metastatic basal cell carcinoma (mBCC) is a very rare entity, and diagnosis can be challenging. Therapeutic options are limited, and response to targeted therapy is poor. Objective: To demonstrate a clonal relationship between BCCs and their metastases and to explore which hedgehog pathway-related mutations are involved in mBCC. Methods: Genetic analysis was conducted in 10 primary BCCs and their metastases. Genes relevant for BCC development were analyzed in tumor and metastasis material with small molecule molecular inversion probes (smMIPs) for PTCH1, PTCH2, SMO, SUFU, GLI2, and TP53 or with targeted next generation sequencing of the same genes and CDKN2A, CDKN2B, CIC, DAXX, DDX3X, FUBP1, NF1, NF2, PTEN, SETD2, TRAF7, and the TERT promoter. Results: In 8 of 10 patients, identical gene mutations could be demonstrated in the primary tumors and their metastases. A broad spectrum of mutations was found. Four patients had SMO mutations in their tumor or metastasis, or both. All SMO mutations found were known to cause resistance to targeted therapy with vismodegib. Limitations: In 2 patients there was insufficient qualitative DNA available for genetic analysis. Conclusions: Molecular testing can help to identify the origin of a BCC metastasis and may be of prognostic and therapeutic value.

Original languageEnglish
Pages (from-to)1135-1142
Number of pages8
JournalJournal of the American Academy of Dermatology
Issue number5
Publication statusPublished - 1 Nov 2021

Bibliographical note

Funding Information:
Funding sources: None.

Publisher Copyright:
© 2019 American Academy of Dermatology, Inc.


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