Division of Clinical Neurooncology, Department of Neurology, University Hospital Bonn, Venusberg-Campus 1, Bonn, Germany.
Department of Radiology, University Hospital Bonn, Venusberg-Campus 1, Bonn, Germany.
Am J Med Genet A. 2019 Sep;179(9):1895-1897. doi: 10.1002/ajmg.a.61283. Epub 2019 Jul 10.
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.
血小板衍生生长因子受体 B (PDGFRB) 的杂合激活突变最近被确定为常染色体显性婴儿肌纤维瘤病的病因。我们描述了一名 36 岁的男性患者，其 PDGFRB c.1681C>T (p.R561C) 突变。随着病情的进展，患者接受了伊马替尼治疗，并在 12 个月后显示出多个病变显著缓解的显著反应。这是首例报告 PDGFRB c.1681C>T 突变的成年患者接受伊马替尼治疗。
