Associated Papers
Recurrent PDGFRB Mutations in Pulmonary Microcystic Fibromyxoma : A Clinicopathologic and Molecular Analysis of 3 Cases.
Zhao M et al.
The American Journal of Surgical Pathology, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatment.
Cristea I et al.
European Journal of Human Genetics : Ejhg, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Infantile myofibromatosis and capillary malformation of the skin due to PDGFRB mosaicism.
Pudig L et al.
Molecular and Cellular Pediatrics, 2025
Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.
Vasquez YA et al.
Npj Precision Oncology, 2025
Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases.
Dundr P et al.
Virchows Archiv : an International Journal of Pathology, 2025
Genomic Characterization of Chondrosarcoma Reveals Potential Therapeutic Targets.
Wagner MJ et al.
Jco Precision Oncology, 2025
Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.
Jokinen V et al.
Bjc Reports, 2025
A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.
Boulouadnine B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling.
Gladkauskas T et al.
Human Mutation, 2025
High-Grade Progression, Sarcomatous Transformation, and/or Metastasis of Pituitary Neuroendocrine Neoplasms (PitNENs): The UCSF Experience.
Terry M et al.
Endocrine Pathology, 2024
Late Relapse in Genetically Determined Infantile Myofibromatosis. A Case Report and Brief Focus on Recurrences.
Conte A et al.
Journal of Pediatric Hematology/oncology, 2024
Therapeutic advances of targeting receptor tyrosine kinases in cancer.
Tomuleasa C et al.
Signal Transduction and Targeted Therapy, 2024
A computational workflow for analysis of missense mutations in precision oncology.
Khan RT et al.
Journal of Cheminformatics, 2024
Somatic PDGFRB activating variants promote smooth muscle cell phenotype modulation in intracranial fusiform aneurysm.
Hao L et al.
Journal of Biomedical Science, 2024
Genetic landscape and PD-L1 expression in Epstein-Barr virus-associated gastric cancer according to the histological pattern.
Park JH et al.
Scientific Reports, 2023
Network-based prediction approach for cancer-specific driver missense mutations using a graph neural network.
Hatano N et al.
Bmc Bioinformatics, 2023
Prenatal genetic diagnosis of disseminated infantile myofibromatosis: a case report and literature review.
Lü Y et al.
Bmc Medical Genomics, 2023
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Shima Y et al.
Science Translational Medicine, 2023
Genomic profiling informs diagnoses and treatment in vascular anomalies.
Li D et al.
Nature Medicine, 2023
High-Grade Sarcomas with Myogenic Differentiation Harboring Hotspot PDGFRB Mutations.
Dermawan JK et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
PDGFRB and NOTCH3 Mutations are Detectable in a Wider Range of Pericytic Tumors, Including Myopericytomas, Angioleiomyomas, Glomus Tumors, and Their Combined Tumors.
Iwamura R et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
An integrative approach for exploring the nature of fibroepithelial neoplasms.
Yun J et al.
British Journal of Cancer, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Myopericytoma of the Parotid and Molecular Profiling: Report of a Rare Case and Review of the Literature.
Roig NJ et al.
International Journal of Surgical Pathology, 2022
Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.
Nédélec A et al.
Journal of Cellular and Molecular Medicine, 2022
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Gounder MM et al.
Nature Communications, 2022
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
Iznardo H et al.
American Journal of Medical Genetics. Part A, 2022
Avoidance of surgery for head and neck infantile myofibromatosis using imatinib monotherapy.
Pattisapu P et al.
Clinical Case Reports, 2022
Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.
Li P et al.
Frontiers in Oncology, 2022
Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.
Hettmer S et al.
Familial Cancer, 2021
Cutaneous acral myofibroma with PDGFRB mutation in a patient with linear morphea en coup de sabre.
Pepper MA et al.
Journal of Cutaneous Pathology, 2021
A germline mutation in the platelet-derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis.
Onoufriadis A et al.
The British Journal of Dermatology, 2021
Novel COL4A1-VEGFD gene fusion in myofibroma.
Dachy G et al.
Journal of Cellular and Molecular Medicine, 2021
PDGF receptor mutations in human diseases.
Guérit E et al.
Cellular and Molecular Life Sciences : Cmls, 2021
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Bredrup C et al.
Human Molecular Genetics, 2021
Major response to imatinib and chemotherapy in a newborn patient prenatally diagnosed with generalized infantile myofibromatosis.
Proust S et al.
Pediatric Blood & Cancer, 2021
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Scheipl S et al.
Therapeutic Advances in Medical Oncology, 2021
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL et al.
American Journal of Medical Genetics. Part A, 2020
Odontogenic myxomas lack PDGFRB mutations reported in myofibromas.
de Siqueira EC et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020
Novel PDGFRB rearrangement in multifocal infantile myofibromatosis is tumorigenic and sensitive to imatinib.
Hassan M et al.
Cold Spring Harbor Molecular Case Studies, 2019
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Guimier A et al.
American Journal of Medical Genetics. Part A, 2019
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.
Bredrup C et al.
European Journal of Human Genetics : Ejhg, 2019