ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.Journal of molecular neuroscience : MN · 2020Pooled it
- Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.European journal of human genetics : EJHG · 2026Review
- Novel NOTCH3 alteration expanding the molecular spectrum of pericytic tumours: report of two cases.Histopathology · 2026Article
- Molecular Characterization of a ComplexJCO precision oncology · 2026Article
- Endoscopic resection of adult sphenoid sinus myofibroma: a rare case report with narrative review.Frontiers in oncology · 2026Article
- Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.European journal of human genetics : EJHG · 2025Article
- Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.Italian journal of pediatrics · 2025Article
- Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666Human mutation · 2025Article
- A computational workflow for analysis of missense mutations in precision oncology.Journal of cheminformatics · 2024Article
- Corneal Vascularization Associated With a Novel PDGFRB Variant.Investigative ophthalmology & visual science · 2023Article
- Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.Journal of cellular and molecular medicine · 2022Article
- Giant intracranial infantile myofibromatosis of the skull base: report of two cases.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2022Article
- Somatic Mosaicism of a PDGFRB Activating Variant in Aneurysms of the Intracranial, Coronary, Aortic, and Radial Artery Vascular Beds.Journal of the American Heart Association · 2022Article
- Kosaki Overgrowth Syndrome: Report of a Family with a NovelMolecular syndromology · 2022Article
- Current progress in clinical, molecular, and genetic aspects of adult fibromuscular dysplasia.Cardiovascular research · 2022Review
- Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.Familial cancer · 2021Article
- Aggressive infantile myofibromatosis with intestinal involvement.Molecular and cellular pediatrics · 2021Article
- Novel COL4A1-VEGFD gene fusion in myofibroma.Journal of cellular and molecular medicine · 2021Article
- Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.Human molecular genetics · 2021Article
- Carpal tunnel syndrome in paediatric patients: A novel association with Kosaki overgrowth syndrome.JPRAS open · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeHeterozygous germ-line activating mutations in PDGFRB cause Kosaki and Penttinen syndromes and myofibromatosis. We describe a 10-year-old child with a germ-line PDGFRB p.N666H mutation who responded to the tyrosine kinase inhibitor imatinib by inhibition of PDGFRB.MethodsThe impact of p.N666H on PDGFRB function and sensitivity to imatinib was studied in cell culture.ResultsCells expressing the p.N666H mutation showed constitutive PDGFRB tyrosine phosphorylation. PDGF-independent proliferation was abolished by imatinib at 1 μM concentration. Patient fibroblasts showed constitutive receptor tyrosine phosphorylation that was also abrogated by imatinib with reduced proliferation of treated cells.This led to patient treatment with imatinib at 400 mg daily (340 mg/m
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.