To the best of our knowledge, this manuscript describes clinical and pathologic findings of the first case of acute mast cell leukemia harboring t(4;5)(q21;q33), compatible with fusion of the PDGFRB gene to a rare partner, PRKG2. Translocation involving the PDGFRB gene is confirmed by fluorescence in situ hybridization study. This case presented a relatively fulminant clinical course with acute mast cell leukemia and "C" findings (cytopenia, hepatosplenomegaly, and weight loss), mast cell sarcoma, and severe basophilia. Despite aggressive presentation initially, the patient responded well to tyrosine kinase inhibitor treatment and is currently in complete remission 33 months after diagnosis. This case significantly extends the disease spectrum associated with PRKG2/PDGFRB fusion gene. Recognizing the whole spectrum of diseases associated with this fusion is critical because tyrosine kinase inhibitor treatment has been exceedingly effective in these patients.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.humpath.2017.03.014 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Unveiling the Effect of Age and IgE Level on Alopecia Areata: Insights from Comparative RNAseq Analysis.
Clin Cosmet Investig Dermatol
January 2025
Department of Dermatology, Dermatology Hospital, Southern Medical University, Guangzhou, 510091, People's Republic of China.
Background: Alopecia areata (AA) is a common autoimmune disease, causes sudden hair loss on the scalp, face, and sometimes other areas of the body. Previous studies have suggested more severe manifestations and higher recurrence rates in children than in adults. Moreover, pediatric AA patients with atopic predisposition often exhibit elevated IgE levels, early onset, and a poor prognosis.
View Article and Find Full Text PDFAsthma Biologics Across the T2 Spectrum of Inflammation in Severe Asthma: Biomarkers and Mechanism of Action.
J Asthma Allergy
January 2025
Amgen Inc., Thousand Oaks, CA, USA.
Airway inflammation, a hallmark feature of asthma, drives many canonical features of the disease, including airflow limitation, mucus plugging, airway remodeling, and hyperresponsiveness. The T2 inflammatory paradigm is firmly established as the dominant mechanism of asthma pathogenesis, largely due to the success of inhaled corticosteroids and biologic therapies targeting components of the T2 pathway, including IL-4, IL-5, IL-13, and thymic stromal lymphopoietin (TSLP). However, up to 30% of patients may lack signatures of meaningful T2 inflammation (ie, T2 low).
View Article and Find Full Text PDFElevated MS4A2 and IgE interaction in nasal polyps contributing to poor postoperative prognosis in patients with eosinophilic chronic rhinosinusitis.
Allergol Int
January 2025
Department of Otorhinolaryngology, Toho University Graduate School of Medicine, Tokyo, Japan; Department of Otorhinolaryngology, Toho University Ohashi Medical Center, Tokyo, Japan.
Background: Chronic rhinosinusitis (CRS) is a persistent inflammatory disease of various endotypes, including eosinophilic CRS (eCRS), which is characterized by marked eosinophilic infiltration and high refractory rates despite treatment. Recent findings suggest the interaction between local IgE and mast cells in nasal polyps (NPs) is key to eCRS pathogenesis; however, the details remain unclear. This study investigated the involvement of MS4A2, a component of the IgE receptor, in the pathogenesis of refractory eCRS.
View Article and Find Full Text PDFPerfluorooctane sulfonate attenuates IgE/Ag-stimulated mast cell activation and anaphylactic responses via activating SHP-1 pathway.
Chemosphere
January 2025
Department of Pharmacology/Toxicology, School of Medicine, Daegu Catholic University, Daegu, Republic of Korea. Electronic address:
Perfluorooctane sulfonate (PFOS), a widely distributed and persistent organic pollutant, is known to cause immune dysfunction. In a previous study, we reported that PFOS modestly increases mast cell activation. However, its effects on FcεRI (a high-affinity IgE receptor)-mediated mast cell activation, a pivotal process in inflammatory allergic reactions and innate immunity, have not been clearly demonstrated.
View Article and Find Full Text PDFRole of mast cell in locally advanced rectal cancer treated with neoadjuvant chemoradiotherapy.
BMC Cancer
January 2025
Department of Surgery, Tokushima University, 3-18-15 Kuramoto-Cho, Tokushima, 770-8503, Japan.
The pro-tumor effects of mast cell (MC) in the tumor microenvironment (TME) are becoming increasingly clear. Recently, MC were shown to contribute to tumor malignancy by supporting the migration of tumor-associated macrophages (TAMs), suggesting a relationship with tumor immunity. In the current study, we aimed to examine the correlation between MC infiltration and neoadjuvant chemoradiotherapy (nCRT) response for locally advanced rectal cancer (LARC).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!