, the expression reached the highest level at 2-days and then down regulated to the lowest level at 4 months.
The TKI-R cases included seven with resistance mutations in the absence of a primary activating KIT mutation, and four with the PDGFRA
D842V mutation, which is known to be associated with TKI resistance.
5] Human genes: AKT1, v-akt murine thymoma viral oncogene homolog 1; EGFR, epidermal growth factor receptor; KRAS, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog; BRAF, v-raf murine sarcoma viral oncogene homolog B1; TP53, tumor protein p53; PDGFRA
, platelet-derived growth factor receptor, [alpha] polypeptide.
Our patient presented with TTP and was found to have a myeloid neoplasm with eosinophilia and PDGFRA
Paediatric glioma tumours that did not have the PDGFRA
alteration were nevertheless found to have associated genes switched on, suggesting that this biological pathway is a key to the development of this childhood cancer.
Christopher Corless, chief of surgical pathology at Oregon Health and Science University, Portland, and others have begun to further characterize mutations according to exons within the c-kit and PDGFRA
Here we report an unequivocal gallbladder IFP, demonstrating for the first time in this anatomic location a mutation of PDGFRA
in this type of tumor.
2005) reported the PDGFRA
gene on SSC8 (35 Mb) in a Duroc cross population, and the NME1 gene on SSC12 (25 Mb) in DurocxPietrain crosses, which were associated with shear force.
The t(4;22)(q12;q11) in atypical hronic myeloid leukaemia fuses BCR to PDGFRA
Unlike sporadic GISTs, the tumors associated with NF1 almost uniformly do not exhibit gain-of-function activation of KIT (14) or PDGFRA
Some researchers have suggested that NF1 mutations inactivate KIT-inhibitory phosphatases and thus cause over-expression of KIT or PDGFRA
, which could be significant in GIST development (14).
In the majority of GIST cases, specific mutations in cellular signaling enzymes ("kinases") called KIT or PDGFRA
cause the growth and survival signal of the cell to become permanently active, leading to cancer.