Washington University NF Center Researchers Identify New Mutation in Malignant Peripheral Nerve Sheath Tumors

January 10, 2014

Angela C. Hirbe, MD, PhD and her colleagues at the Washington University NF Center and the University of California – San Francisco have recently identified a new mutation in malignant peripheral nerve sheath tumors (MPNSTs). They discovered mutations in the BRAF gene – a gene previously implicated in skin cancer (melanoma).

In this new study, Dr. Hirbe demonstrated that BRAF mutations occured in 20% of non-NF1-associated MPNSTs and in 2.7% of MPNSTs arising in people with NF1.  This exciting finding suggests that future therapies might block BRAF activity, as has been used for other cancers.

Dr. Hirbe is a Hematology/Oncology fellow currently performing her post-doctoral research in the laboratory of Dr. David Gutmann.

Hirbe AC, Pekmezci M, Dahiya S, Apicelli AJ, VanTine, BA, Perry A, Gutmann DH. BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors.  Neuro-Oncology. (in press)