TP53 Mutated Metastatic Basal Cell Carcinoma Responsive to Sonidegib

Main Article Content

Brian Wanner
Austin Cusick
Jyoti Kapil
Stephen D'Addario

Keywords

Basal cell carcinoma, sonidegib, nonmelanoma skin cancer, TP53

Abstract

Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer (NMSC) with the potential of local invasion and distant metastasis. Our patient presented with an enlarging four-centimeter subcutaneous nodule over the right clavicle. An incisional biopsy demonstrated the unexpected findings of a nodular and infiltrative BCC. Definitive treatment was a radical neck dissection with adjuvant radiation therapy. Negative margins were confirmed on the excision and lymph node evaluation demonstrated no lymphatic spread. Surveillance chest computed tomography revealed new bilateral pulmonary nodules and a subsequent biopsy showed metastatic BCC. A genetic panel demonstrated TP53 mutations and no mutations in SMO. The patient was started on sonidegib and after ten months of therapy his disease was stabilized on repeat imaging. This case report demonstrates a rare presentation of a TP53 mutated, metastatic BCC responsive to sonidegib.

References

1. Rogers HW, Weinstock MA, Feldman SR, Coldiron BM. Incidence Estimate of Nonmelanoma Skin Cancer (Keratinocyte Carcinomas) in the US Population, 2012. JAMA Dermatol. 2015;151(10):1081-1086. doi:10.1001/jamadermatol.2015.1187

2. Piva de Freitas P, Senna CG, Tabai M, Chone CT, Altemani A. Metastatic Basal Cell Carcinoma: A Rare Manifestation of a Common Disease. Case Rep Med. 2017;2017:8929745. doi:10.1155/2017/8929745

3. Seo S-H, Shim W-H, Shin D-H, Kim Y-S, Sung H-W. Pulmonary metastasis of Basal cell carcinoma. Ann Dermatol. 2011;23(2):213-216. doi:10.5021/ad.2011.23.2.213

4. Fecher LA, Sharfman WH. Advanced basal cell carcinoma, the hedgehog pathway, and treatment options - role of smoothened inhibitors. Biologics. 2015;9:129-140. doi:10.2147/BTT.S54179

5. Morgan FC, Ruiz ES, Karia PS, Besaw RJ, Neel VA, Schmults CD. Factors Predictive of Recurrence, Metastasis, and Death from Primary Basal Cell Carcinoma 2cm or Larger in Diameter. Journal of the American Academy of Dermatology. Published online October 2019. doi:10.1016/j.jaad.2019.09.075

6. Pellegrini C, Maturo MG, Di Nardo L, Ciciarelli V, Gutiérrez García-Rodrigo C, Fargnoli MC. Understanding the Molecular Genetics of Basal Cell Carcinoma. Int J Mol Sci. 2017;18(11). doi:10.3390/ijms18112485

7. Wong C, Poblete-Lopez C, Vidimos A. Comparison of daily dosing vs. Monday through Friday dosing of vismodegib for locally advanced basal cell carcinoma and basal cell nevus syndrome: A retrospective case series. Journal of the American Academy of Dermatology. Published online February 21, 2020. doi:10.1016/j.jaad.2020.02.050