"In many patients, we observed a dramatic reduction in the size of the lesions within one to two months," said Dr. Bickers.
BCNS, also called Gorlin syndrome, encompasses multiple defects that involve the skin, nervous system, eyes, endocrine glands, and bones. The hallmark of BCNS is the appearance of basal cell carcinomas, a slow-growing form of skin cancer, at or around puberty.
BCNS has been linked to mutations in a gene called PTCH1. PTCH1 is the primary inhibitor of a signaling pathway called sonic hedgehog, which helps ensure proper segmentation of the developing embryo. At birth, PTCH1 activity causes most sonic hedgehog signaling to cease. When PTCH1 is mutated, however, sonic hedgehog signaling continues postnatally. The result can be abnormal cell growth and proliferation, setting the stage for tumor formation.
Vismodegib was designed specifically to achieve targeted inhibition of the sonic hedgehog pathway, which is implicated in many types of cancer. The drug is manufactured by Genentech, Inc., of South San Francisco, CA.
Earlier clinical trials found vismodegib to be an effective treatment for metastatic and recurrent locally advanced basal cell skin cancer. On January 30, 2012, the Food and Drug Administration approved vismodegib for use in adults with these conditions who cannot be treated with surgery or radiation.
"Vismodegib is a new treatment option for those with extensive disease, particularly those whose lives may be devastated by the disease and the need for repeated treatment," Dr. Bickers said. However he would not recommend vismodegib for all BCNS patients. The side effects, whic
|Contact: Elizabeth Streich|
Columbia University Medical Center