As shown in Figure 2A, PDGFRA
is highly expressed in the surrounding cells of the spermatic basement membrane (including Sertoli cells and spermatogonial stem cells) in 2-days testicular tissues.
An interesting aspect in the management of PDGFRA
rearrangement of HES was the variability of the imatinib dosage.
gene carries instructions for making a protein found on the cell surface, which is part of a pathway that helps control cell growth, proliferation and survival - processes that are commonly disrupted in cancer.
And exon 18 mutations in the PDGFRA
gene, seen in tumors arising in the stomach and omentum, appear to be 100% resistant to Gleevec--at least in vivo--which makes these patients potential candidates for sunitinib, which has been approved for salvage therapy and is marketed as Sutent.
For immunohistochemistry the following antibodies were used: CD34 (1:50; Novocastra, Newcastle, United Kingdom), CD117 and S100 (rabbit polyclonal), and smooth muscle actin (SMA), calponin, and anaplastic lymphoma kinase-1 (ALK-1) (mouse monoclonal) 1:400, 1:800, 1:100, 1:50, and undiluted, respectively; DAKO, Glostrup, Denmark); DOG1 (rabbit polyclonal, 1:100; Spring Bioscience, Pleasanton, California); and PDGFRA
(rabbit polyclonal, 1:400; sc-338, Santa Cruz Biotechnology, Inc, Santa Cruz, California).
However, Lee and colleagues reported a favorable response to IM in a 65-year-old woman with NF1-associated GISTs who did not have mutations in the KIT or PDGFRA
12) In such cases mutational analysis for KIT and PDGFRA
genes (13) can also be used to identify GIST as compared to a microcystic/reticular schwannoma.
Chronic eosinophilic leukemia (CEL), a rare entity, is classified by the WHO as 2 groups of patients with neoplastic eosinophils: those that have a myeloid or lymphoid neoplasm with eosinophilia, and abnormalities in PDGFRA
, PDGFRB, or FGFR1 genes, and those integrated in a subchapter as MPN that have chronic eosinophilic leukemia, not otherwise specified (1-3).
Myeloid Neoplasms Associated With Eosinophilia and Abnormalities of PDGFRA
In 30 percent of tumors, the pathway included extra copies of the PDGFRA
gene, making it the most commonly amplified gene.
OncoMap Genes and Mutations (a) Gene Mutations ABL1 16 AKT1 1 AKT2 2 APC 13 BRAF 50 CDK4 1 CDKN2A 11 CSF1R 7 CTNNB1 33 EGFR 51 ERBB2 8 FGFR1 2 FGFR2 6 FGFR3 8 FLT3 9 GNA11 2 GNAQ 3 GNAS 3 HRAS 16 IDH1 3 IDH2 2 JAK2 1 JAK3 3 KIT 27 KRAS 24 MAP2K1 7 MET 6 MLH1 1 MYC 6 NPM1 3 NRAS 22 PDGFRA
20 PIK3CA 23 PIK3R1 14 PTEN 15 RB1 11 RET 14 SRC 1 STK11 12 TP53 7 VHL 7 (a) OncoMap 4 consists of 439 assays designed to interrogate 471 unique mutations in 41 cancer genes.
Researchers reported similar gene-expression patterns associated with high levels of PDGFRA
were also found in childhood tumors without extra copies of the gene.