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Ref Type Journal Article
PMID (36201717)
Authors Elsbernd A, Boulouadnine B, Ahmed A, Farooqi M, Sandritter T, Shakhnovich V, Blanding D, Demoulin JB, Thompson J
Title Novel Oncogenic PDGFRB Variant in Severe Infantile Myofibromatosis With Response to Imatinib Using Therapeutic Drug Monitoring.
Journal Vol Issue Date Pages Journal Short Title
JCO precision oncology 6 2022 Oct e2200250 JCO Precis Oncol
URL
Abstract Text

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
PDGFRB I535_A540delinsVPSWP indel gain of function PDGFRB I535_A540delinsVPSWP results in a deletion of six amino acids in the cytoplasmic domain of the Pdgfrb protein from amino acids 535 to 540, combined with the insertion of five amino acids at the same site (UniProt.org). I535_A540delinsVPSWP confers a gain of function to the Pdgfrb protein as indicated by constitutive phosphorylation of Pdgfrb and phosphorylation of Stat3 in cultured cells, and activation of the Stat and Mapk pathways in the absence of ligand in a reporter assay (PMID: 36201717).
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PDGFRB I535_A540delinsVPSWP infantile myofibromatosis predicted - sensitive Imatinib Case Reports/Case Series Actionable In a clinical case study, Gleevec (imatinib) treatment resulted in improvement in the small bowel obstruction and gastric myofibromas after 6 weeks in a patient with multicentric infantile myofibromatosis harboring PDGFRB I535_A540delinsVPSWP, and in a preclinical analysis, Gleevec (imatinib) inhibited STAT and MAPK pathway activity in cells expressing PDGFRB I535_A540delinsVPSWP in a luciferase assay (PMID: 36201717). 36201717