نتایج جستجو برای: pdgfra
تعداد نتایج: 1003 فیلتر نتایج به سال:
Emerging evidence has shown that microRNAs have key roles in regulating various normal physiological processes, whereas their deregulated expression is correlated with various diseases. The miR-146 family includes miR-146a and miR-146b, with a distinct expression spectrum in different hematopoietic cells. Recent work indicated that miR-146a has a close relationship with inflammation and autoimm...
Objetivo: describir el caso de un paciente con síndrome hipereosinofílico primario rearreglo genético PDGFRA/FIP1L1, infiltración miocárdica y su respuesta al manejo inhibidores tirosina quinasa. Materiales métodos: descripción interés basado en registros historia clínica paraclínicos. Revisión literatura basada búsqueda bibliográfica PubMed ScienceDirect. Resultados: (SHE) es una condición poc...
The author herein reports a large cell neuroendocrine carcinoma (LCNEC) of the lung diagnosed in an axillary lymph node without clinical data, with an emphasis of KIT and PDGFRA. A 64-year-old woman presented with axillary and cervical lymph nodes swelling. An excisional biopsy of an axillary lymph node was performed under the clinical diagnosis of malignant lymphoma. The HE section showed a pr...
PURPOSE To explore the molecular bases of potential new pharmacologic targets in aggressive fibromatosis (desmoid tumor). EXPERIMENTAL DESIGN Tumor specimens from 14 patients surgically treated for aggressive fibromatosis (6 familial adenomatous polyposis and 8 sporadic cases), analyzed for adenomatous polyposis coli (APC) and CTNNB1 (beta-catenin) mutations, were further investigated for bet...
Sorafenib has substantial clinical activity as thirdor fourth-line treatment of imatiniband sunitinibresistant gastrointestinal stromal tumors (GIST). Because sorafenib targets both angiogenesis-related kinases (VEGFR) and the pathogenetic kinases found in GIST (KIT or PDGFRA), the molecular basis for sorafenib efficacy in this setting remains unknown. We sought to determine the spectrum of act...
AIM To assess KIT and PDGFRA mutations frequencies in a Portuguese series of gastrointestinal stromal tumours (GISTs). METHODS 78 GISTs were evaluated for CD117 expression and screened for mutations in KIT (exons 9, 11, 13, 14 and 17) and PDGFRA (exons 12, 14 and 18) genes. RESULTS KIT activating mutations were identified in 44 (56%) of the 78 GISTs. Forty cases (91%) presented a mutation i...
BACKGROUND A small subset (10-15%) of gastrointestinal stromal tumours (GISTs) lack mutations in KIT and PDGFRA (wild-type GIST). Recently, a novel BRAF exon 15 mutation (V600E) was detected in imatinib-naive wild-type high-risk intestinal GISTs (4%). However, the frequency and distribution of BRAF mutations within the spectrum of GISTs, and whether they might represent secondary events acquire...
The microsatellite instability (MSI) phenotype may constitute an important biomarker for patient response to immunotherapy, particularly to anti-programmed death-1 inhibitors. MSI is a type of genomic instability caused by a defect in DNA mismatch repair (MMR) proteins, which is present mainly in colorectal cancer and its hereditary form, hereditary nonpolyposis colorectal cancer. Gastrointesti...
PURPOSE Platelet-derived growth factor receptor-alpha (PDGFRA) mutations are found in approximately 5% to 7% of advanced gastrointestinal stromal tumors (GIST). We sought to extensively assess the activity of imatinib in this subgroup. EXPERIMENTAL DESIGN We conducted an international survey among GIST referral centers to collect clinical data on patients with advanced PDGFRA-mutant GISTs tre...
RATIONALE Mutations in desmosome proteins cause arrhythmogenic cardiomyopathy (AC), a disease characterized by excess myocardial fibroadipocytes. Cellular origin(s) of fibroadipocytes in AC is unknown. OBJECTIVE To identify the cellular origin of adipocytes in AC. METHODS AND RESULTS Human and mouse cardiac cells were depleted from myocytes and flow sorted to isolate cells expressing platel...
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