Molecular testing in metastatic basal cell carcinoma.

A new interesting article has been published in J Am Acad Dermatol. 2019 Dec 20. pii: S0190-9622(19)33303-1. doi: 10.1016/j.jaad.2019.12.026. and titled:

Molecular testing in metastatic basal cell carcinoma.

Authors of this article are:

Verkouteren BJA, Wakkee M, van Geel M, van Doorn R, Winnepenninckx VJ, Korpershoek E, Mooyaart AL, Reyners AKL, Terra JB, Aarts MJB, Reinders MGHC0, Mosterd K.

A summary of the article is shown below:

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: We aimed to demonstrate a clonal relationship between BCCs and their metastases and additionally, to explore which hedgehog pathway related mutations are involved in mBCC.METHODS: Genetic analysis was conducted in ten primary BCCs and their metastases. Genes relevant for BCC development were analyzed in tumor and metastasis material, either with small molecule molecular inversion probes (smMIPs) for PTCH1, PTCH2, SMO, SUFU, GLI2 and TP53, or with targeted next generation sequencing (tNGS) of the same genes and CDKN2A, CDKN2B, CIC, DAXX, DDX3X, FUBP1, NF1, NF2, PTEN, SETD2, TRAF7, and the TERT promoter.RESULTS: In eight of ten 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 and/or metastasis. All SMO mutations found, were known to cause resistance to targeted therapy with vismodegib.LIMITATIONS: In two 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.Copyright © 2019. Published by Elsevier Inc.

Check out the article’s website on Pubmed for more information:



This article is a good source of information and a good way to become familiar with topics such as: basal cell carcinoma; hedgehog pathway; metastatic; molecular genetics; targeted therapy; vismodegib.


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