Junction: Systemic Mastocytosis

genetic testing

Novel Genetic Profile Identified in Case of Systemic Mastocytosis

A novel genotype was identified in a patient with systemic mastocytosis (SM) and published in a case report in Cancer Genetics. “This case provides evidence that MCL [mast cell leukemia] can have wide spectrum of genetic abnormalities as well as accumulation of mutations in various genes including BRAF,” the authors said. The study demonstrated coexistent…

group

People With Rare Diseases Report Facing Stigma, Poor Quality of Life

People with rare diseases who live in the United States have a poor health-related quality of life and experience significant stigma, according to a study published in the Orphanet Journal of Rare Diseases. A rare disease in the United States can be defined as any disease in which the prevalence is less than 200,000 cases.…

chart data visualization

Bezuclastinib for Advanced SM: Phase 2 Data Coming Soon

Cogent Biosciences announced an upcoming presentation of initial data from the phase 2 APEX trial on bezuclastinib for patients with advanced systemic mastocytosis (SM). The presentation, announced via news release, will occur at the European Hematology Association (EHA) Annual Congress on June 10, 2022. “There is a significant unmet need for novel, safe, and effective treatment…

microscope

Mast Cell Metabolites Link to Systemic Mastocytosis Symptoms

Patients with systemic mastocytosis (SM) tend to have elevated urinary levels of mast cell metabolites and their symptoms mitigate with mastocyte control drugs, according to a new study published in the Journal of Allergy and Clinical Immunology. In contrast, patients with hereditary alpha-tryptasemia, despite showing mast cell activation symptoms, do not have mast cell metabolites in…

blood research

FcεRI Expression in Mast Cells Regulated By External Stimuli

Researchers have proposed a possible explanation for the variation in FcεRI expression during the development of mast cells, suggesting that external stimuli regulate the FcεRI expression of mast cell progenitors, Many diseases, such as asthma and systemic mastocytosis, are driven by mast cells. The current understanding is that mast cell progenitors exhibit low FcεRI expression,…

Pathologist

Basic Morphology, Immunohistochemical Panel Can Be Used to Diagnose SM

It is possible to diagnose systemic mastocytosis through basic morphology and a restricted immunohistochemical panel, according to a new study published in the journal Human Pathology.  “Of note, pathologist(s) should recognize the different morphological variants of the disease and include the adequate markers when requesting immunohistochemical studies,” the authors of the study wrote. It is…

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