Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies
نویسندگان
چکیده
منابع مشابه
Absence of PDGFRA mutations in primary melanoma.
TO THE EDITOR The mitogen-activated protein kinase signaling pathway plays an important role in cell proliferation, differentiation and survival and is frequently altered in cancer. Genetic mechanisms that activate the mitogen-activated proteinkinase pathway vary among subtypes of melanoma when tumors are classified according to a combination of sun exposure and anatomic site (Maldonado et al.,...
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Gene rearrangement in the form of an intragenic deletion is the primary mechanism of oncogenic mutation of the epidermal growth factor receptor (EGFR) gene in gliomas. However, the incidence of platelet-derived growth factor receptor-α (PDGFRA) gene rearrangement in these tumors is unknown. We investigated the PDGFRA locus in PDGFRA-amplified gliomas and identified two rearrangements, including...
متن کاملNovel oncogenic PDGFRA mutations in pediatric high-grade gliomas.
The outcome for children with high-grade gliomas (HGG) remains dismal, with a 2-year survival rate of only 10% to 30%. Diffuse intrinsic pontine glioma (DIPG) comprise a subset of HGG that arise in the brainstem almost exclusively in children. Genome-wide analyses of copy number imbalances previously showed that platelet-derived growth factor receptor α (PDGFRA) is the most frequent target of f...
متن کاملIntratumoral KIT mutational heterogeneity and recurrent KIT/ PDGFRA mutations in KIT/PDGFRA wild-type gastrointestinal stromal tumors
OBJECTIVE Gastrointestinal stromal tumors (GISTs) with no mutations in exons 9, 11, 13, and 17 of the KIT gene and exons 12, and 18 of the PDGFRA gene were defined as KIT/PDGFRA wild-type and they accounted for ~15-20% of GISTs. However, some KIT/PDGFRA wild-type GISTs with KIT mutations in other exons were occasionally reported. We therefore assessed GISTs to understand the whole genomic genot...
متن کاملConcomitant KIT/BRAF and PDGFRA/BRAF mutations are rare events in gastrointestinal stromal tumors
AIM The BRAF mutation is a rare pathogenetic alternative to KIT/PDGFRA mutation in GIST and causes Imatinib resistance. A recent description of KIT and BRAF mutations co-occurring in an untreated GIST has challenged the concept of their being mutually exclusive and may account for ab initio resistance to Imatinib, even in the presence of Imatinib-sensitive KIT mutations. BRAF sequencing is gene...
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ژورنال
عنوان ژورنال: Nature Communications
سال: 2018
ISSN: 2041-1723
DOI: 10.1038/s41467-018-06949-w