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Case Report/Case Series |

Patient With Gorlin Syndrome and Metastatic Basal Cell Carcinoma Refractory to Smoothened Inhibitors

Gefei A. Zhu, BS1; Angela S. Li, BS1; Anne Lynn S. Chang, MD1
[+] Author Affiliations
1Department of Dermatology, Stanford University School of Medicine, Redwood City, California
JAMA Dermatol. 2014;150(8):877-879. doi:10.1001/jamadermatol.2013.8744.
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Importance  Basal cell carcinomas (BCCs) in patients with Gorlin syndrome have been reported to be extremely sensitive to Smoothened (SMO) inhibitors, a novel targeted therapy against the Hedgehog pathway, because of characteristic mutations in these patients. A few cases of disease refractory to oral therapy with SMO inhibitors have been reported in patients with Gorlin syndrome and nonmetastatic BCCs, but refractory disease in distantly metastatic tumors has not been documented in this high-risk group.

Observations  A man with Gorlin syndrome and innumerable cutaneous BCCs presented with biopsy-proven BCC in his lungs. After SMO inhibitor therapy, almost all of his cutaneous tumors shrank, but his lung metastases did not. These lung metastases remained refractory to treatment despite institution of a second SMO inhibitor.

Conclusions and Relevance  We report a case of Gorlin syndrome in a patient with metastatic BCC refractory to SMO inhibitors. Furthermore, clinical responses in this patient’s cutaneous tumors did not parallel the responses in the distant site. However, serial imaging after diagnosis of metastatic disease can be critical to monitor for response to therapy.

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Figure 1.
Histopathologic Analysis of the Lung Core Biopsy Specimen

A, Sections of the lung biopsy tissue revealed cribriform glands lined by bland basaloid cells without mitotic activity. This finding was consistent with adenoid basal cell carcinoma, which can be seen in patients with Gorlin syndrome (hematoxylin-eosin, original magnification ×200). B, The lung tissue stained positive for BCL-2, supporting the diagnosis of basal cell carcinoma (hematoxylin-eosin, original magnification ×100).

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Figure 2.
Computed Tomograph of the Patient’s Lungs

The scans reveal growth of existing basal cell carcinomas (A) and development of new nodules (B, arrow) in the left apical lung while undergoing Smoothened inhibition therapy.

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