Analysis of AML with t(4; 12)(q12; p13) translocation by WGS and WTS provides detailed information that separates two subsets distinguished by distinct breakpoint cluster regions on 4q12 and PDGFRA gene expression. The clinical impact of increased PDGFRA gene expression on response to TKI and prognosis as well as the presence of additional fusion transcripts has to be evaluated in further studies.
1 year ago
Clinical • Omic analysis
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BCR (BCR Activator Of RhoGEF And GTPase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ASXL1 (ASXL Transcriptional Regulator 1) • ETV6 (ETS Variant Transcription Factor 6) • ADAMTS3 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 3) • SCFD2 (Sec1 Family Domain Containing 2)
Despite PDGF receptor expression, the GBM tumour cells, in contrast to pericytes, surprisingly displayed a lack of responses to ligand stimulation through either PDGFRα or PDGFRβ. This warrants further investigation into the signalling mechanisms behind tumour cells to better understand tumour biology.
Our results suggest that embryonic overexpression of hPDGFRA in Olig2- or GFAP-progenitors is deleterious to OPC development and leads to CNS hypomyelination.