PDGRFB  mutation‐associated myofibromatosis: Response to targeted therapy with imatinib | Zendy

Weller Johannes M. | Zendy; Keil Vera C. | Zendy; Gielen Gerrit H. | Zendy; Herrlinger Ulrich | Zendy; Schäfer Niklas | Zendy

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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.

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