PDGFRA D842V

pdgfra d842突变的特点是伊马替尼耐药突变。这在胃肠道间质瘤中表现最为明显,但含有这些突变的其他细胞系也表现出抗药性。a842v突变的外源性表达导致293t细胞在没有配体的情况下pdgfra的组成性酪氨酸磷酸化和IL-3依赖性Ba/F3细胞系的细胞因子依赖性增殖,这两个证据都表明这是一种激活性突变。在伊马替尼耐药细胞系中,许多其他治疗方法已证明有效。这些包括:克雷诺拉尼、西罗莫司和中龙血素(pkc412)。
PDGFRA D842 mutations are characterized broadly as imatinib resistance mutations. This is most well characterized in gastrointestinal stromal tumors, but other cell lines containing these mutations have been shown to be resistant as well. Exogenous expression of the A842V mutation resulted in constitutive tyrosine phosphorylation of PDGFRA in the absence of ligand in 293T cells and cytokine-independent proliferation of the IL-3-dependent Ba/F3 cell line, both evidence that this is an activating mutation. In imatinib resistant cell lines, a number of other therapeutics have demonstrated efficacy. These include; crenolanib, sirolimus, and midostaurin (PKC412).

别名

ASP842VAL,RS121908585
Allele Registry ID:CA123194
ClinVar ID:13543

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
45515209355152093AT
Transcript
ENST00000257290.5

基因序列

NM_006206.4:c.2525A>003eT
NP_006197.1:p.Asp842Val
ENST00000257290.5:c.2525A>003eT
NC_000004.11:g.55152093A>003eT