نتایج جستجو برای: pdgfra

تعداد نتایج: 1003  

2007
Katherine A. Janeway Bernadette Liegl Amy Harlow Claudia Le Antonio Perez-Atayde Harry Kozakewich Christopher L. Corless Michael C. Heinrich Jonathan A. Fletcher

Fewer than 15% of gastrointestinal stromal tumors (GIST) in pediatric patients harbor KIT or platelet-derived growth factor receptor A (PDGFRA) mutations in contrast to a mutation rate of 80% in adult GISTs. However, some therapeutic inhibitors of KIT have efficacy in pediatric GIST, suggesting that KIT may, nevertheless, play an important role in oncogenesis. In adult GIST, characteristic cyto...

2003
Animesh Pardanani Rhett P. Ketterling Stephanie R. Brockman Heather C. Flynn Sarah F. Paternoster Brandon M. Shearer Terra L. Reeder Chin-Yang Li Nicholas C. P. Cross Jan Cools D. Gary Gilliland Gordon W. Dewald Ayalew Tefferi

Imatinib mesylate is effective in the treatment of hematologic malignancies that are characterized by either ablor PDGFR activating mutations. The drug is also active in a subset of patients with eosinophilic disorders and systemic mast cell disease (SMCD). Recently, a novel tyrosine kinase that is generated from fusion of the Fip1-like 1 (FIP1L1) and PDGFR (PDGFRA) genes has been identified as...

2011
Tadashi Terada

Although several clinicopathological studies of malignant melanoma of the nasal cavity have been reported, there are no studies of the expression and gene mutation of KIT and platelet derived growth factor receptor-α (PDGFRA) in melanoma of the nasal cavity. A 92-year-old Japanese woman consulted to our hospital because of right nasal obstruction and epistaxis. Physical examination and imaging ...

2016
Sabrina Rossi Marta Sbaraglia Marta Campo Dell'Orto Daniela Gasparotto Matilde Cacciatore Elena Boscato Valentina Carraro Luisa Toffolatti Giovanna Gallina Monia Niero Emanuela Pilozzi Alessandra Mandolesi Fausto Sessa Aurelio Sonzogni Cristina Mancini Guido Mazzoleni Salvatore Romeo Roberta Maestro Angelo P. Dei Tos

AIM The BRAF mutation is a rare pathogenetic alternative to KIT/PDGFRA mutation in GIST and causes Imatinib resistance. A recent description of KIT and BRAF mutations co-occurring in an untreated GIST has challenged the concept of their being mutually exclusive and may account for ab initio resistance to Imatinib, even in the presence of Imatinib-sensitive KIT mutations. BRAF sequencing is gene...

Journal: :Human molecular genetics 2002
E Joanna Baxter Andreas Hochhaus Pascual Bolufer Andreas Reiter José M Fernandez Leonor Senent José Cervera Federico Moscardo Miguel A Sanz Nicholas C P Cross

Chronic myeloid leukaemia (CML) is characterized by the presence of the BCR-ABL fusion gene, usually in association with the t(9;22)(q34;q11) translocation. We report here the identification and cloning of a rare variant translocation, t(4;22)(q12;q11), in two patients with a CML-like myeloproliferative disease (MPD). RT-PCR indicated that both patients were negative for BCR-ABL, but FISH analy...

2014
Jonathan Boyd Jun Zhang Ramya Pinnamaneni Ridas Juskevicius

Since its discovery 10 years ago, the FIP1L1-PDGFRA mutation has been associated with a wide spectrum of hematopoietic neoplasms which range from T-lymphoblastic leukemia/lymphoma, chronic eosinophilic leukemia, chronic myeloid leukemia, acute myeloid leukemia, myeloid sarcoma and systemic mastocytosis. Common between these neoplasms was eosinophila and sensitivity to imatinib and other tyrosin...

2012
Tadashi Terada

Although many clinicopathological studies of malignant melanoma of the conjunctiva have been reported, there have been no studies of the expression and gene mutations of KIT and PDGFRA in melanoma of the conjunctiva. A 69-year-old Japanese woman consulted our hospital because of black mass (0.7 × 0.7 × 0.6 cm) in the conjunctiva. A biopsy was taken. The biopsy showed malignant epithelioid cells...

Journal: :Carcinogenesis 2006
Nikola Holtkamp Ali Fuat Okuducu Jana Mucha Anastasia Afanasieva Christian Hartmann Isis Atallah Lope Estevez-Schwarz Christian Mawrin Reinhard E Friedrich Victor-F Mautner Andreas von Deimling

Platelet-derived growth factor receptor alpha (PDGFRalpha) and c-Kit are receptor tyrosine kinases. Both are targets of the tyrosine kinase inhibitor imatinib mesylate which is approved for treatment of some cancers. In order to assess the role of PDGFRalpha and c-Kit in malignant peripheral nerve sheath tumours (MPNST) we examined human tumours for structural alterations, protein and ligand ex...

Journal: :Clinical cancer research : an official journal of the American Association for Cancer Research 2008
Narasimhan P Agaram Michael P Laquaglia Berrin Ustun Tianhua Guo Grace C Wong Nicholas D Socci Robert G Maki Ronald P DeMatteo Peter Besmer Cristina R Antonescu

PURPOSE Pediatric gastrointestinal stromal tumors (GIST) are rare and occur preferentially in females as multifocal gastric tumors, typically lacking mutations in KIT and PDGFRA. As KIT oncoprotein is consistently overexpressed in pediatric GIST, we sought to investigate the activation of KIT downstream targets and alterations of KIT/PDGFRA gene copy number, mine novel therapeutic targets by ge...

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