ArticleAmerican journal of human genetics2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 1 of them a synthesis that pooled it.
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Who cites it
62 citing papers in PubMed, 1 synthesis or guideline pooled it, 167 citations in OpenAlex.
- The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.Journal of molecular neuroscience : MN · 2020Pooled it
- Regulation of PDGF-BB signaling in placental pericytes by soluble PDGFRβ isoforms: implications for fetoplacental vascular development.Angiogenesis · 2026Article
- Solitary infantile myofibromatosis of the extremities: a multicenter case series with descriptive analysis of recurrence and β-catenin expression.Orphanet journal of rare diseases · 2026Article
- Long-Read Haplotype Phasing Resolves Allelic Configuration as a Missing Layer of Precision Oncology.medRxiv : the preprint server for health sciences · 2026Article
- Molecular Characterization of a ComplexJCO precision oncology · 2026Article
- Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.European journal of human genetics : EJHG · 2025Article
- Dermatomyofibromas harbor PDGFRB mutations - another tyrosine kinase-driven neoplasm.Virchows Archiv : an international journal of pathology · 2025Article
- Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.Italian journal of pediatrics · 2025Article
- PDGFRα/β heterodimer activation negatively affects downstream ERK1/2 signaling and cellular proliferation.Nature communications · 2025Article
- Infantile myofibromatosis: Small bumps pose big problems.Journal of neonatal-perinatal medicine · 2025Article
- Whole-exome sequencing identifies distinct genomic aberrations in eccrine porocarcinomas and poromas.Orphanet journal of rare diseases · 2025Article
- Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666Human mutation · 2025Article
- Article
- Therapeutic advances of targeting receptor tyrosine kinases in cancer.Signal transduction and targeted therapy · 2024Review
- Isolated infantile myofibroma of the calvarium: Report of a case with a literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- 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
- Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene.Journal of human genetics · 2023Article
- Non-familial paediatric oral myofibroma - A masquerade. Case report with a brief literature review.Journal of oral and maxillofacial pathology : JOMFP · 2023Article
- Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.Journal of cellular and molecular medicine · 2022Article
2 more citing papers are in PubMed but not listed here.
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25 authors at 11 institutions in 4 countries.
Funding
Abstract
Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c.1681C>T (p.Arg561Cys) in platelet-derived growth factor receptor β (PDGFRB) in all 11 affected individuals with familial IM, although none of the five individuals with nonfamilial IM had mutations in this gene. We further identified a second heterozygous mutation in PDGFRB in two myofibromas from one of the affected familial cases, indicative of a potential second hit in this gene in the tumor. PDGFR-β promotes growth of mesenchymal cells, including blood vessels and smooth muscles, which are affected in IM. Our findings indicate p.Arg561Cys substitution in PDGFR-β as a cause of the dominant form of this disease. They provide a rationale for further investigations of this specific mutation and gene to assess the benefits of targeted therapies against PDGFR-β in aggressive life-threatening familial forms of the disease.
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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.