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PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib
Johannes M Weller1, Vera C Keil2, Gerrit H Gielen3
1Division of Clinical Neurooncology, Department of Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn, Germany.
Abstract:
Heterozygous activating mutations in platelet-derived growth factor receptor B (PDGFRB) have been recently identified as a cause of autosomal-dominant infantile myofibromatosis. We describe a 36-year-old man with PDGFRB c.1681C>T (p.R561C) mutation. Upon progressive disease, the patient received treatment with imatinib and showed a remarkable response with remission of multiple lesions after 12 months. This is the first report of an adult patient with PDGFRB c.1681C>T mutation treated with imatinib.
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