PDGRFB mutation-associated myofibromatosis: Response to targeted therapy with imatinib.
Am J Med Genet A
; 179(9): 1895-1897, 2019 09.
Article
em En
| MEDLINE
| ID: mdl-31291054
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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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Miofibromatose
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Predisposição Genética para Doença
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Receptor beta de Fator de Crescimento Derivado de Plaquetas
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Mesilato de Imatinib
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article