Premium
PDGRFB mutation‐associated myofibromatosis: Response to targeted therapy with imatinib
Author(s) -
Weller Johannes M.,
Keil Vera C.,
Gielen Gerrit H.,
Herrlinger Ulrich,
Schäfer Niklas
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61283
Subject(s) - pdgfrb , imatinib , medicine , mutation , pdgfb , cancer research , oncology , platelet derived growth factor receptor , genetics , biology , receptor , growth factor , gene , myeloid leukemia
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.