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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy

5 Jun 2020

Abstract excerpt

More than 50 individuals with activating variants in the receptor tyrosine kinase PDGFRB have been reported, separated based on clinical features into solitary myofibromas, infantile myofibromatosis, Penttinen syndrome with premature aging and osteopenia, Kosaki overgrowth syndrome, and fusiform aneurysms. Despite their descriptions as distinct clinical entities, review of previous reports demonstrates...

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PMID: 32500973
DOI: 10.1002/ajmg.a.61615

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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyPMID 32500973Read ↗

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).Semantic proximity Read ↗

Association of PDGFRB Mutations With Pediatric Myofibroma and MyofibromatosisSemantic proximity Read ↗

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.Semantic proximity Read ↗

Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signallingSemantic proximity Read ↗

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.Semantic proximity Read ↗

PDGF receptor mutations in human diseases.Semantic proximity Read ↗

Kosaki overgrowth syndrome: A novel pathogenic variant in PDGFRB and expansion of the phenotype including cerebrovascular complications.Semantic proximity Read ↗

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms.Semantic proximity Read ↗

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working GroupSemantic proximity Read ↗

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.Semantic proximity Read ↗

PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.Semantic proximity Read ↗

Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.Semantic proximity Read ↗

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