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our Premium Content: News alerts, weekly reports and conference plannersBIOMARKER:
PDGFRB mutation
i
Other names: PDGFRB, Platelet Derived Growth Factor Receptor Beta, Platelet-Derived Growth Factor Receptor, Beta Polypeptide, Beta-Type Platelet-Derived Growth Factor Receptor, Platelet-Derived Growth Factor Receptor Beta, Platelet-Derived Growth Factor Receptor 1, CD140 Antigen-Like Family Member B, PDGF-R-Beta, PDGFR-Beta, PDGFR-1, PDGFR1,Beta Platelet-Derived Growth Factor Receptor, Activated Tyrosine Kinase PDGFRB, CD140b Antigen, NDEL1-PDGFRB , CD140B, IBGC4, JTK12, PENTT, IMF1 , KOGS
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Entrez ID:
11ms
Complex Genetic Evolution and Treatment Challenges in Myeloid Neoplasms: A Case of Persistent t(2;3)(p15~23;q26)/MECOM Rearrangement, SF3B1 Mutation, and Transient TNIP1::PDGFRB Chimera. (PubMed, Cancer Genomics Proteomics)
This case highlights the complexity of MDS and the importance of genetic abnormalities in treatment planning. Persistent MECOM rearrangement and the TNIP1::PDGFRB chimera emphasize the need for further research into resistance mechanisms.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • SF3B1 (Splicing Factor 3b Subunit 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • MECOM (MDS1 And EVI1 Complex Locus)
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FLT3 mutation • SF3B1 mutation • MECOM rearrangement • PDGFRB mutation
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imatinib • cytarabine • azacitidine • hydroxyurea • mercaptopurine
12ms
Cancer-type somatic mutations in saccular cerebral aneurysms. (PubMed, Eur J Hum Genet)
A p.Tyr562Asp somatic mutation was detected in the PDGFRB gene; somatic mutations at the same codon have been reported in fusiform cerebral aneurysms. These results widen the concept on the role of somatic mutations in cerebral aneurysms, indicating their possible role in the more common saccular aneurysm, similarly to the rarer fusiform aneurysm.
Journal
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PDGFRB (Platelet Derived Growth Factor Receptor Beta)
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PDGFRB mutation
1year
Uterine sarcoma with KAT6B/A::KANSL1 fusion: a molecular and clinicopathological study on 9 cases. (PubMed, Virchows Arch)
Of the 8 patients with available follow-up, two died of disease, 3 are currently alive with disease, and 3 have no evidence of disease. The correct recognition of tumors with the KAT6B/A::KANSL1 fusion is essential because despite the bland morphological features of most cases, these tumors have a propensity for aggressive behavior.
Journal
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TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • TSC1 (TSC complex subunit 1) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • FANCD2 (FA Complementation Group D2) • KAT6B (Lysine Acetyltransferase 6B)
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TP53 mutation • ATM mutation • PTEN mutation • NF1 mutation • TSC1 mutation • PDGFRB mutation
1year
High-Grade Progression, Sarcomatous Transformation, and/or Metastasis of Pituitary Neuroendocrine Neoplasms (PitNENs): The UCSF Experience. (PubMed, Endocr Pathol)
We conclude that metastatic PitNET is not the only high-grade form of pituitary NEN. If further confirmed, these histopathologic and/or molecular features could provide advanced warning of biological aggressiveness and be applied towards a future grading scheme.
Journal
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ATRX (ATRX Chromatin Remodeler)
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TP53 mutation • PIK3CA mutation • PTEN mutation • CDKN2A deletion • TP53 expression • PDGFRB mutation
1year
Gene therapy for intracranial aneurysms: systemic review. (PubMed, J Neurointerv Surg)
In particular, mutations in the PDGFRB gene lead to constitutively activated ERK and nuclear factor κB signaling pathways, which can be targeted with tyrosine kinase inhibitors. In this review, we describe how low frequency somatic variants in oncogenic and other genes affect the pathogenesis of aneurysm development, with a focus on gene therapy applications, such as endovascular in situ delivery of chemotherapeutics.
Review • Journal • Gene therapy
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PDGFRB (Platelet Derived Growth Factor Receptor Beta)
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PDGFRB mutation
1year
Recurrent CLTC::SYK fusions and CSF1R mutations in juvenile xanthogranuloma of soft tissue. (PubMed, Blood)
Finally, a TPM3::NTRK1 fusion or MAP2K1 deletion were detected in 2 children with systemic JXG who experienced spontaneous disease regression. This study advances the molecular understanding of histiocytic neoplasms and may guide diagnostics and clinical management.
Journal
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NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • CCND1 (Cyclin D1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CD163 (CD163 Molecule) • TPM3 (Tropomyosin 3) • MAPK1 (Mitogen-activated protein kinase 1) • SYK (Spleen tyrosine kinase) • CLTC (Clathrin Heavy Chain) • CSF1R (Colony stimulating factor 1 receptor) • MRC1 (Mannose Receptor C-Type 1)
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BRAF V600E • BRAF V600 • NTRK1 fusion • TPM3-NTRK1 fusion • CCND1 expression • CSF1R fusion • PDGFRB fusion • PDGFRB mutation
almost2years
Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB. (PubMed, Ophthalmol Sci)
Imatinib sensitivity in vitro suggests perspectives for targeted therapy preventing recurrences in the future. Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
Journal
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PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • NOTCH3 (Notch Receptor 3) • CD34 (CD34 molecule)
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PDGFRB mutation
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imatinib
almost2years
Comprehensive genomic profiling on metastatic Melanoma: results from a network screening from 7 Italian Cancer Centres. (PubMed, J Transl Med)
The results presented in this study show the value and the challenge of a genomics-driven network trial. The data can be also a valuable resource as a validation cohort for Immunotherapy and Target therapy genomic biomarker research.
Journal • Tumor mutational burden • IO Companion diagnostic • IO biomarker • Metastases
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BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • NOTCH3 (Notch Receptor 3) • NOTCH4 (Notch 4)
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BRAF mutation • RET mutation • NOTCH3 mutation • PDGFRB mutation
2years
GENE FUSIONS ARE A PUTATIVE MECHANISM THAT DIMINISHES SENSITIVITY TO VENETOCLAX-HYPOMETHYLATING AGENTS COMBINATION IN ACUTE MYELOID LEUKEMIA (SIE 2023)
Appealing patterns of resistance emerged from genomic analysis: the “activating like� signature may help define a specific target among tyrosine kinase inhibitors, while “self-renewal like� patients may benefit from histone deacetylase inhibitors (as we previously published). HOXA genes overexpression open a novel therapeutic options for selected patients.
FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR1 (Fibroblast growth factor receptor 1) • JAK2 (Janus kinase 2) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • CSF3R (Colony Stimulating Factor 3 Receptor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • MECOM (MDS1 And EVI1 Complex Locus) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • BAX (BCL2-associated X protein) • LTBP1 (Latent-transforming growth factor beta-binding protein 1) • CCND2 (Cyclin D2) • DDX5 (DEAD-Box Helicase 5) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • PER1 (Period Circadian Clock 1) • TBL1XR1 (TBL1X Receptor 1)
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NRAS mutation • CBL mutation • MECOM rearrangement • PDGFRB mutation
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TruSight RNA Pan-Cancer Panel
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Venclexta (venetoclax)
2years
Novel Mechanisms of Venetoclax Resistance in Acute Myeloid Leukemia Based on Genomic Rearrangements (ASH 2023)
Through deep transcriptomic characterization combined with conventional diagnostics, this analysis uncovered novel mechanisms of VEN resistance while confirming established ones. The distinct gene expression patterns may help tailor targeted therapies, with patients showing the "activating-like" signature potentially benefiting from tyrosine kinase inhibitors and those with the "self-renewal like" signature possibly responding well to histone deacetylase inhibitors. Furthermore, HOXA gene overexpression presents an exciting therapeutic opportunity for selected patients.
IO biomarker
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR (Fibroblast Growth Factor Receptor) • JAK2 (Janus kinase 2) • MCL1 (Myeloid cell leukemia 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ETV6 (ETS Variant Transcription Factor 6) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • CSF3R (Colony Stimulating Factor 3 Receptor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • MECOM (MDS1 And EVI1 Complex Locus) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • BAX (BCL2-associated X protein) • LTBP1 (Latent-transforming growth factor beta-binding protein 1) • CCND2 (Cyclin D2) • DDX5 (DEAD-Box Helicase 5) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • PER1 (Period Circadian Clock 1) • GSDMC (Gasdermin C) • TBL1XR1 (TBL1X Receptor 1)
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NRAS mutation • CBL mutation • MCL1 expression • NRAS G13 • MECOM rearrangement • PDGFRB mutation
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TruSight RNA Pan-Cancer Panel
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Venclexta (venetoclax)
2years
Concurrent PTEN and PDGFRB Alterations Characterize Storiform Collagenoma. (PubMed, Am J Surg Pathol)
In addition, we report missense alterations in the juxtamembrane domain of PDGFRB in 4 of 5 (80%) sporadic cases, including mutations that have been previously described in sporadic myofibroma and myopericytoma. Therefore, we confirm the neoplastic nature of storiform collagenoma, we expand the spectrum of reported PDGFRB alterations in mesenchymal tumors and we suggest a possible collaborative role for PTEN and PDGFRB in the pathogenesis of storiform collagenoma.
Journal
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PTEN (Phosphatase and tensin homolog) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CD34 (CD34 molecule)
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CD34 positive • PDGFRB mutation
2years
Whole-exome sequencing reveals the genomic profile and IL6ST mutations as a prognostic biomarker of paraneoplastic pemphigus associated unicentric Castleman disease. (PubMed, J Invest Dermatol)
Finally, we classified PNP-associated UCD into four genomic subgroups: IL6ST, PDGFRB, IL6ST-PDGFRB, and an unknown subgroup. In summary, we defined the molecular profile of PNP-associated UCD and identified a potential molecular biomarker for predicting prognosis, which may provide therapeutic targets for treating this severe disorder.
Journal
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PDGFRB (Platelet Derived Growth Factor Receptor Beta) • MUC4 (Mucin 4, Cell Surface Associated) • IL6ST (Interleukin 6 Signal Transducer)
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PDGFRB mutation
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