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16 novel PDGFRA mutations identified from different tumor types and identify three previously uncharacterized activating mutations that promote cell survival and proliferation, were characterized.
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Describe the development of inflammatory fibroid polyps and gastrointestinal stromal tumors in familial PDGFRA-mutation syndrome.
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PDGFRalpha has a role in in pathogenesis, progression and prognosis of NK/T-cell lymphoma
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Protein expression of tumour and/or stromal cell PDGFRalpha, PDGFRbeta and PDGF-CC was evaluated in primary tumours (N = 489), synchronous lymph node metastases (N = 135) and asynchronous recurrences (N = 39) using immunohistochemistry in a prospectively maintained cohort of primary breast cancer patients
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despite high PDGFRA expression, PDGFRalpha signaling was not essential to BCP-ALL cell survival ex vivo
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joint bioinformatics analysis was performed to identify the differentially expressed genes (DEGs) in wildtype Gastrointestinal stromal tumors (GISTs)samples compared with KIT/PDGFRA mutant GIST samples
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Hepatic stellate cells release PDGFRalpha-enriched extracellular vesicles. Alcoholic liver disease patients show an increase in PDGFRalpha enrichment in their serum extracellular vesicles.
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In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. (Meta-analysis)
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The present study showed that PDGFRA amplification could be effectively targeted by pazopanib.
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KIT and PDGFRA mutations account for 85-90% of GISTs; subsequent genetic studies have led to the identification of mutation/epimutation of additional genes, including the succinate dehydrogenase (SDH) subunit A, B, C, and D genes.
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we compared the efficacy of first-line therapy, doxorubicin (DOX), and TRAB in a platelet-derived growth factor receptor-alpha (PDGFRA)-amplified PLPS. METHODS: We used a fresh sample of PLPS tumor derived from a 68-year-old male patient diagnosed with a recurrent Pleomorphic liposarcoma
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PDGFRA D842V mutant binds imatinib with lower affinity with respect to wild-type structure, showing higher stability during the interaction with other type I TKIs (like crenolanib).
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Altered SK3 channel expression observed in PDGFRalpha(+) cells in UPJ obstruction suggests that the impairment of SK3 activity across the UPJ may perturb upper urinary tract peristalsis in this urological condition
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None of the 16 analyzable tumors showed mutations in PDGFRA. Thus, PDGFRA mutations probably do not play an important role in the development of sporadic lipomas of the intestines
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Whole transcriptome sequencing followed by pathway analysis indicated that STXBP4 is involved in functional gene networks that regulate cell growth, proliferation, cell death, and survival in cancer. Platelet-derived growth factor receptor alpha (PDGFRalpha) was a key downstream mediator of STXBP4 function. In line with this, shRNA mediated STXBP4 and PDGFRA knockdown suppressed tumor growth in soft-agar and xenograft ...
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We report a unique case of an SDH-deficient GIST case with an activating PDGFRA mutation. Oncogenic mutations in GIST are generally mutually exclusive; however documented exceptions exist which may have diagnostic and therapeutic implications.
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Case Report: concurrent development of myeloproliferative hypereosinophilic syndrome and lymphomatoid papulosis associated with FIP1L1-PDGFRA gene fusion.
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Our results suggest that PDGFRalpha overexpression in HCC is a prognostic marker independent of adjacent non-tumor site liver fibrosis status.
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PDGFRalpha/PDGFRbeta signaling balance determines progenitor commitment to beige (PDGFRalpha) or white (PDGFRbeta) adipogenesis.
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overview of primary cilia-mediated regulation of receptor tyrosine kinase (RTK- PDGFRa and PDGFRb) and transforming growth factor beta (TGF-beta) signaling [review]
