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Bone Marrow Mast Cells in Systemic Mastocytosis Exhibit Aberrations in Histamine, Size and Granularity.
Clin Exp Allergy
March 2025
Department of Immunology, Allergology, Rheumatology and the Infla-Med Centre of Excellence, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.
High-sensitivity KIT D816V variation analysis by droplet digital polymerase chain reaction: The reference laboratory perspective.
Am J Clin Pathol
February 2025
Department of Pathology, University of Utah, Salt Lake City, UT, United States.
Objective: Systemic mastocytosis is a hematologic malignancy characterized by clonal expansion of neoplastic mast cells. Detection of this variation is critical for screening and diagnosis, with recent guidelines emphasizing the need for high-sensitivity assays that identify variants at a variant allele frequency below 0.05%.
View Article and Find Full Text PDFD816V KIT mutation induces mitochondrial morphologic and functional changes through BNIP3 downregulation in human myeloid cell lines ROSA and TF-1.
Exp Hematol
February 2025
Laboratory of Hematology, Department of Hematology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona/IIB Sant Pau, Spain. Electronic address:
The KIT receptor is a transmembrane protein found on the surface of many different cell types. Mutant forms of KIT are drivers of myeloid neoplasms, including systemic mastocytosis. The KIT D816V mutation is the most common, leading to constitutive activation of the receptor and its downstream targets, and it is highly resistant to c-KIT inhibitors.
View Article and Find Full Text PDFHereditary Alpha Tryptasemia: Survey of Concomitant Genetic Testing.
Int Arch Allergy Immunol
February 2025
Background Hereditary alpha tryptasemia (HαT) affects 4-6% of the general population. Inherited as a mendelian dominant, HαT has a variable phenotypic expression. Many patients have no obvious symptoms.
View Article and Find Full Text PDFFedratinib and gandotinib induce apoptosis and enhance the efficacy of tyrosine kinase inhibitors in human mast cells.
Am J Cancer Res
January 2025
Department of Biomedicine, University Hospital Basel and University of Basel Basel, Switzerland.
Mastocytosis is characterized by an abnormal accumulation of mast cells (MC) in various organs. In most patients, the disease is driven by the D816V mutation, leading to activation of the KIT receptor and subsequent downstream signaling, including the JAK/STAT pathway. In recent years, KIT-targeting tyrosine kinase inhibitors (TKI) have emerged for the treatment of systemic mastocytosis; however, the overall response rate is often not sufficient.
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