ArticleOncogene2016
PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib.
Article in Oncogene, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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36 citing papers in PubMed, 91 citations in OpenAlex.
- Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature review.European journal of human genetics : EJHG · 2026Review
- Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.European journal of human genetics : EJHG · 2025Article
- Therapeutic advances of targeting receptor tyrosine kinases in cancer.Signal transduction and targeted therapy · 2024Review
- Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.Journal of biomedical science · 2024Article
- PDGFRA K385 mutants in myxoid glioneuronal tumors promote receptor dimerization and oncogenic signaling.Scientific reports · 2024Article
- Case report: Navigating treatment pathways for cardiac intimal sarcoma withFrontiers in oncology · 2024Article
- Corneal Vascularization Associated With a Novel PDGFRB Variant.Investigative ophthalmology & visual science · 2023Article
- Understanding cancer drug resistance withiScience · 2023Article
- Pathogenic mutation hotspots in protein kinase domain structure.Protein science : a publication of the Protein Society · 2023Article
- Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.BMC medical genomics · 2023Review
- High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2023Article
- An integrative approach for exploring the nature of fibroepithelial neoplasms.British journal of cancer · 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
- Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.Clinical case reports · 2022Article
- 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
- PDGF receptor mutations in human diseases.Cellular and molecular life sciences : CMLS · 2021Review
- Identification of Early Diagnostic and Prognostic BiomarkersFrontiers in oncology · 2021Article
- Solitary adult orbital myofibroma: Report of a case and review of the literature.American journal of ophthalmology case reports · 2020Article
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recently, germline and somatic heterozygous mutations in the platelet-derived growth factor receptor β (PDGFRB) have been associated with familial infantile myofibromatosis (IM), which is characterized by soft tissue tumors, and overgrowth syndrome, a disease that predisposes to cancer. These mutations have not been functionally characterized. In the present study, the activity of three PDGFRB mutants associated with familial IM (R561C, P660T and N666K) and one PDGFRB mutant found in patients with overgrowth syndrome (P584R) was tested in various models. The P660T mutant showed no difference with the wild-type receptor, suggesting that it might represent a polymorphic variant unrelated to the disease. By contrast, the three other mutants were constitutively active and able to transform NIH3T3 and Ba/F3 cells to different extents. In particular, the germline mutant identified in overgrowth syndrome, P584R, was a stronger oncogene than the germline R561C mutant associated with myofibromatosis. The distinct phenotypes associated with these two mutations could be related to this difference of potency. Importantly, all activated mutants were sensitive to tyrosine kinase inhibitors such as imatinib, nilotinib and ponatinib. In conclusion, the PDGFRB mutations previously identified in familial IM and overgrowth syndrome activate the receptor in the absence of ligand, supporting the hypothesis that these mutations cause the diseases. Moreover, imatinib seems to be a promising treatment for patients carrying these mutations. To our knowledge, these are the first confirmed gain-of-function point mutations of PDGFRB in human cancer.
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