REGULAR ARTICLEStructure, Organization, and Transcription Units of the Human α-Platelet-Derived Growth Factor Receptor Gene, PDGFRA
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BCR-PDGFRA fusion in a T lymphoblastic leukemia/lymphoma
2015, Cancer GeneticsCitation Excerpt :Molecular structure analysis of the PDGFRA gene shows 23 exons spanning approximately 65 kb. The first non-coding exon is followed by a large intron of approximately 23 kb (17,18). In the 5′BCR-3′PDGFRA gene fusion, fusion of BCR exons 7, 12, or 17 with PDGFRA exon 12 occurs (19).
Exome Sequencing of Bilateral Testicular Germ Cell Tumors Suggests Independent Development Lineages
2015, Neoplasia (United States)Citation Excerpt :Only base level somatic mutations in KIT, not PDGFRA, have so far been identified in TGCT [25]. In our study, the two somatic non-synonymous mutations in PDGFRA were identified in exons 21 and 22, encoding the end fragment of the intracellular tyrosine kinase and the fragment next to the carboxy-terminal part, respectively [44]. PDGFRA has been identified as a cancer driver in several cancer diseases with no particular mutational hotspot region [6].
ETV6 fusion genes in hematological malignancies: A review
2012, Leukemia ResearchCitation Excerpt :2) that was found to generate an in-frame fusion gene between ETV6 exon 6 and PDGFRA exon 11 [44]. The PDGFRA gene contains several domains of interest, among which a transmembrane domain, an inhibitory juxtamembrane WW-like domain and a tyrosine kinase domain [45,46]. Dimerization, through homodimerization and/or heterodimerization with PDGFRB, induces kinase domain activation, leading to the activation of intracellular signaling pathways.
A Rare PDGFRA Exon 15 Germline Mutation Identified in a Patient With Phenotypic Manifestations Concerning for GIST-Plus Syndrome: A Case Report and Review of Literature
2023, International Journal of Surgical Pathology