Gorlin syndrome with metastatic basocelular carcinoma in treatment with vismodegib
Keywords:
Gorlin syndrome, molecular targeted therapy, basal cell carcinoma, lung metastasis.Abstract
The Gorlin-Goltz syndrome or basal cell nevoid carcinoma syndrome is a rare autosomal dominant disorder characterized by odontogenic keratocysts of the jaw, plantar or palmar pits and multiple basal cell carcinomas (BCC). There can be also other malignancies such as medulloblastoma, meningioma or rhabdomyosarcoma. This disorder is explained by loss of the inhibition normally exerted by the membrane protein PTCH (Drosophila patched gene Human Analogue) over SMO (Smoothened) which promotes cell proliferation and invasion. Identification of this oncogen addicted pathway has generated targeted therapies such as Vismodegib, a SMO inhibitor. The BCC is an indolent disease, but in Gorlin syndrome, it is aggressive and has risk of local recurrence and metastases, with minimal treatment options. A patient with Gorlin syndrome and pulmonary metastatic BCC is described, who after 6 cycles of treatment with Vismodegib had partial response with minimal toxicity.
Author Biographies
Diego Mauricio González
Médico Internista en entrenamiento en Oncología Clínica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia. Universidad El Bosque, Bogotá D.C., Colombia
Juan Carlos Velásquez
Médico Internista en entrenamiento en Oncología Clínica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia. Universidad El Bosque, Bogotá D.C., Colombia
Luisa Alejandra Galvis
Médico Internista en entrenamiento en Oncología Clínica, Instituto Nacional de Cancerología, Bogotá D.C., Colombia. Universidad El Bosque, Bogotá D.C., Colombia
Leonardo Pulido
Médico Especialista en Dermatología , Instituto Nacional de Cancerología, Bogotá D.C., Colombia. Especialista.
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