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Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1.
Patients presenting with eosinophilia-associated myeloproliferative neoplasm who lack overexpression of PDGFRA or PDGFRB have been imatinib-responsive , emphasizing that it is reasonable to begin a therapeutic trial with tyrosine kinase inhibitors in symptomatic patients pending further gene fusion characterization.
For PDGFRA, the expression reached the highest level at 2-days and then down regulated to the lowest level at 4 months.
The novel marker, DOG1, is expressed ubiquitously in gastrointestinal stromal tumors irrespective of KIT or PDGFRA mutation status.
La variante mieloproliferativa se debe a una deleccion en el cromosoma 4, que genera la fusion de los genes FIP1L1 (Fip-1-like1) y PDGFRA, produciendo el gen de fusion F/P que codifica para una proteina tirosina quinasa constitutiva que estimula la proliferacion de eosinofilos y suprime, a su vez, su apoptosis (53-55).
Abbreviations CT --computed tomography GISTs --gastrointestinal stromal tumors c-KIT --CD117 antigen NF1 --neurofibromatosis type 1 MRI --magnetic resonance imaging PDGFRA --platelet derived growth factor receptor alpha
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 rearrangement.
They include information on definitions, morphologic features, special stains, immunohistochemistry and flow cytometry techniques, differential diagnosis, diagnostic features, and special issues for normal findings; myeloproliferative neoplasms; neoplasms associated with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1; myelodysplastic syndrome/myeloproliferative neoplasms; acute myeloid leukemia and related precursor neoplasms; precursor lymphoid neoplasms; mature B-cell neoplasms; mature T-cell and natural killer cell neoplasms; Hodgkin's lymphoma; histiocytic and dendritic cell neoplasms; and immunodeficiency-associated lymphoproliferative disorders.
In pediatric gliomas, a gene called PDGFRA on chromosome 4q12 was commonly amplified and there were often extra copies of chromosome 1q.
Amelanotic malignant melanoma of the esophagus: report of two cases with immunohistochemical and molecular genetic study of KIT and PDGFRA.
Further study revealed that 5%-10% of GISTs have a closely related mutation in the PDGFRA gene, while approximately 12%-15% are unrelated to these mutations and therefore characterized as "wild type" or "wild card" GISTs.
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- PDGFA-Associated Protein 1
- PDGFRA/BCR fusion
- PDH complex
- PDH complex