PDGFRA I843DEL

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。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. In imatinib resistant cell lines, a number of other therapeutics have demonstrated efficacy. These include; crenolanib, sirolimus, and midostaurin (PKC412).

别名

DELI843
Allele Registry ID:CA645526434
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
45515209555152097ATCT
Transcript
ENST00000257290.5

基因序列

NC_000004.11:g.55152095_55152097del
ENST00000257290.5:c.2527_2529delATC