^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    BIOMARKER:

    PDGFRA mutation

    i
    Other names: Platelet Derived Growth Factor Receptor Alpha, Platelet-Derived Growth Factor Receptor Alpha Polypeptide, Alpha-Type Platelet-Derived Growth Factor Receptor, CD140 Antigen-Like Family Member A, CD140a Antigen, PDGF-R-Alpha, PDGFR-2, PDGFR2, Alpha Platelet-Derived Growth Factor Receptor, Platelet-Derived Growth Factor Alpha Receptor, PDGFR-Alpha, RHEPDGFRA, CD140A
    Entrez ID:
    5156
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    4d
    Primary Gliosarcoma With Mesenchymal Differentiation Resembling Follicular Dendritic Cell Sarcoma. (PubMed, Neuropathology)
    This case represents the first documented instance of primary gliosarcoma with FDCS differentiation, thereby expanding its known differentiation spectrum. Furthermore, it demonstrates the necessity of separately analyzing each histological component in the diagnosis of challenging cases.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • KDR (Kinase insert domain receptor) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • CR1 (Complement C3b/C4b Receptor 1) • FCER2 (Fc Fragment Of IgE Receptor II) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
    |
    EGFR mutation • EGFR amplification • PTEN mutation • KIT mutation • MGMT promoter methylation • PDGFRA mutation
    9d
    StrateGIST 1: First-in-human Study of IDRX-42 in Participants With Metastatic and/or Unresectable Gastrointestinal Stromal Tumors (clinicaltrials.gov)
    P1, N=278, Recruiting, IDRX, Inc., a wholly owned subsidiary of GSK, LLC | Trial completion date: Nov 2027 --> Jun 2028 | Trial primary completion date: Nov 2027 --> Mar 2027
    Trial completion date • Trial primary completion date • First-in-human
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    KIT mutation • PDGFRA mutation • PDGFRA exon 18 mutation
    |
    sunitinib • velzatinib (GSK6042981)
    9d
    Small bowel GIST harboring concurrent KIT exon 9 duplication and SDHC mutation: A case report. (PubMed, Oncotarget)
    Activating mutations in KIT or PDGFRA characterize most GISTs and confer sensitivity to imatinib, whereas succinate dehydrogenase (SDH)–deficient GISTs lack these mutations and are typically imatinib resistant...Pathology demonstrated spindle cell GIST with significant treatment effect and retained SDHB expression. This case suggests that oncogenic KIT signaling may remain the dominant driver of GIST behavior despite the presence of a germline SDHC mutation and highlights the importance of integrated molecular interpretation in GIST management.
    Journal
    |
    PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • SDHC (Succinate Dehydrogenase Complex Subunit C)
    |
    KIT mutation • KIT exon 9 mutation • PDGFRA mutation
    |
    imatinib
    9d
    Targeting the Unmet Need in Gastrointestinal Stromal Tumors: A Contemporary Review of Investigational Clinical Trials and Therapeutic Landscape. (PubMed, Pharmaceuticals (Basel))
    Although tyrosine kinase inhibitors (TKIs), particularly imatinib, have substantially improved outcomes, most patients with advanced disease eventually develop resistance, resulting in disease progression...Molecular stratification and personalized approaches dominate ongoing research, but evidence generation remains limited by small sample sizes and slow recruitment. Future trials integrating innovative therapeutic platforms and patient-centered outcomes are essential to improve long-term disease control and quality of life.
    Review • Journal • IO biomarker
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    KIT mutation • PDGFRA mutation
    |
    imatinib
    12d
    Analysis of Somatic Mutations and Immunotherapy Biomarkers in Chinese Patients With Non-Small Cell Lung Cancer During 2019-2024: A Retrospective Study. (PubMed, Health Sci Rep)
    TP53 mutations were more prevalent in males (p = 0.03) and associated with squamous cell carcinomas (p = 0.007), whereas EGFR mutations were more common in females (p < 0.001) and associated with lung adenocarcinomas (p = 0.029). Our findings suggest that a high TMB combined with a heterozygous HLA-I genotype serves as an effective biomarker for predicting the efficacy of immunotherapy in Chinese patients with NSCLC.
    Retrospective data • Journal • Tumor mutational burden • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PI3K (Phosphoinositide 3-kinases)
    |
    TP53 mutation • EGFR mutation • TMB-H • NRAS mutation • PTEN mutation • TMB-L • MET mutation • PDGFRA mutation
    13d
    Multi-Omic Landscape of Gastrointestinal Stromal Tumors in a Real-World Patient Cohort of 1,427 Cases. (PubMed, Clin Cancer Res)
    This molecular landscape provides a broader molecular understanding of GIST and supports a widespread use of genetic profiling for patients' clinical management.
    Journal • Real-world evidence
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    PDGFRA mutation
    14d
    Case Report: A liver metastasis 24 years after resection of a very low-risk jejunal gastrointestinal stromal tumor. (PubMed, Front Oncol)
    Adjuvant imatinib (400 mg/day) was initiated, with no recurrence at 18-month follow-up...It underscores the need for lifelong vigilance, even in low-risk patients, and emphasizes the critical roles of advanced imaging, immunohistochemistry, and molecular diagnostics in diagnosing late metastases. Individualized follow-up strategies and consideration of long-term surveillance for selected low-risk GISTs warrant reevaluation in the era of molecular-targeted therapy.
    Journal
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ANO1 (Anoctamin 1)
    |
    PDGFRA mutation
    |
    imatinib
    19d
    MegaMOST: A Study Evaluating the Activity of Anti-cancer Treatments Targeting Tumor Molecular Alterations/Characteristics in Advanced / Metastatic Tumors. (clinicaltrials.gov)
    P2, N=455, Recruiting, Centre Leon Berard | Trial completion date: Nov 2026 --> Oct 2027 | Trial primary completion date: Feb 2026 --> Oct 2026
    Trial completion date • Trial primary completion date
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • FLT3 (Fms-related tyrosine kinase 3) • MET (MET proto-oncogene, receptor tyrosine kinase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • AXL (AXL Receptor Tyrosine Kinase) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SMAD4 (SMAD family member 4) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • FLT1 (Fms-related tyrosine kinase 1) • CDK6 (Cyclin-dependent kinase 6) • CCND3 (Cyclin D3) • TYRO3 (TYRO3 Protein Tyrosine Kinase) • NTRK (Neurotrophic receptor tyrosine kinase)
    |
    BRAF mutation • NRAS mutation • BRAF V600 • KIT mutation • CDKN2A deletion • HRAS mutation • KRAS G12 • PDGFRA mutation • KRAS amplification • NRAS G12
    |
    Mekinist (trametinib) • Tafinlar (dabrafenib) • Alecensa (alectinib) • Cabometyx (cabozantinib tablet) • Stivarga (regorafenib) • Kisqali (ribociclib) • Ayvakit (avapritinib) • siremadlin (HDM201)
    20d
    Micro-GIST with BRAF mutation arising in a Leiomyoma: a rare case report and literature review. (PubMed, Z Gastroenterol)
    The patient remained in a satisfactory condition post-surgery. This case report describes the first documented micro-GIST with a BRAF mutation arising in a leiomyoma, highlighting the importance of molecular detection in the differential diagnosis of GISTs.
    Review • Journal
    |
    BRAF (B-raf proto-oncogene) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    BRAF mutation • KIT mutation • PDGFRA mutation
    21d
    Comparison of clinical outcomes between endoscopic and surgical treatments for primary duodenal gastrointestinal stromal tumors (ChiCTR2600118303)
    P=N/A, N=198, Completed, Jiangsu Province Hospital and Nanjing Medical University First Affiliated Hospital; Jiangsu Province Hospital and Nanjing Medical University First Aff
    New trial
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    PDGFRA mutation
    1m
    Targeting tumor dormancy: the next frontier in gastrointestinal stromal tumor therapy. (PubMed, Neoplasia)
    The remarkable success of tyrosine kinase inhibitors such as imatinib (IM) in treating GIST has established them as a paradigm of precision medicine in modern oncology...Emerging evidence suggests that analogous non-genetic persistence states also exist in GIST, including dormant cells and KITlow stem-like/CSC-like subpopulations. This review summarizes the fundamental regulatory mechanisms of tumor dormancy and CSC biology, discusses their candidate manifestations in GIST, and proposes innovative therapeutic strategies based on these insights.
    Review • Journal
    |
    PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    KIT mutation • PDGFRA mutation
    |
    imatinib
    1m
    A Study of Inlexisertib (DCC-3116) in Combination With Anticancer Therapies in Participants With Advanced Malignancies (clinicaltrials.gov)
    P1/2, N=94, Recruiting, Deciphera Pharmaceuticals, LLC | Not yet recruiting --> Recruiting
    Enrollment open
    |
    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    KIT mutation • PDGFRA mutation
    |
    Qinlock (ripretinib) • inlexisertib (DCC-3116)