ArticleFamilial cancer2021
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Article in Familial cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 28 citations in OpenAlex.
- Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.Molecular and cellular pediatrics · 2025Review
- Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn: case report.Italian journal of pediatrics · 2025Article
- ROSBASE1.0: a comprehensive database of reactive oxygen species (ROS): categorization of cell organelles, proteins, taxonomy, and diseases based on ROS-related activities.Database : the journal of biological databases and curation · 2025Article
- Infantile myofibromatosis in a 1-month-old male from Pakistan: A case report.SAGE open medical case reports · 2025Article
- A Rare Case of Infantile Myofibromatosis With Intra Cranial Involvement.Global pediatric health · 2024Article
- Multicentric infantile myofibromatosis with extensive involvement limited to bone.Skeletal radiology · 2022Article
- True radial artery aneurysm in a patient with somatic mosaicism for a mutation in platelet-derived growth factor receptor β gene.Journal of vascular surgery cases and innovative techniques · 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
- Pneumothorax revealing late recurrence of infantile myofibromatosis.Annals of thoracic medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 18 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile myofibromatosis (IM), which is typically diagnosed in young children, comprises a wide clinical spectrum ranging from inconspicuous solitary soft tissue nodules to multiple disseminated tumors resulting in life-threatening complications. Familial IM follows an autosomal dominant mode of inheritance and is linked to PDGFRB germline variants. Somatic PDGFRB variants were also detected in solitary and multifocal IM lesions. PDGFRB variants associated with IM constitutively activate PDGFRB kinase activity in the absence of its ligand. Germline variants have lower activating capabilities than somatic variants and, thus, require a second cis-acting hit for full receptor activation. Typically, these mutant receptors remain sensitive to tyrosine kinase inhibitors such as imatinib. The SIOPE Host Genome Working Group, consisting of pediatric oncologists, clinical geneticists and scientists, met in January 2020 to discuss recommendations for genetic testing and surveillance for patients who are diagnosed with IM or have a family history of IM/PDGFRB germline variants. This report provides a brief review of the clinical manifestations and genetics of IM and summarizes our interdisciplinary recommendations.
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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.