A rare disorder where mast cells accumulate in organs, causing a wide range of allergic and systemic symptoms.
✦ AI summary
Systemic mastocytosis (SM) is a disorder where mast cells grow abnormally in the bone marrow and other organs, and it's diagnosed using bone marrow findings, blood tryptase levels, mast cell markers, and a specific KIT gene mutation (KIT D816V) found in over 90% of patients [1][5]. Doctors classify SM into milder "indolent" forms versus more "advanced" forms like aggressive SM or mast cell leukemia, with advanced forms linked to worse outcomes and additional harmful mutations [5][12]. Research shows a higher amount of the KIT mutation in blood/bone marrow tends to track with overall disease burden and skin involvement, though it doesn't clearly predict things like allergic reactions, bone thinning, or gut symptoms [1]. People with SM can experience varied symptoms including abdominal pain, flushing, diarrhea, bone density changes (like unusual bone hardening), liver problems, and severe allergic-type reactions (anaphylaxis), sometimes as first clues leading to diagnosis [10][11][8][3]. Treatment approaches mentioned include drugs targeting the KIT mutation (such as avapritinib and midost
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SuperRCA assay of KIT p.D816V mutation load reveals novel correlation to clinical phenotype.
The KIT p.D816V mutation is seen in more than 90% of patients with systemic mastocytosis (SM). A high variant allele fraction (VAF) is associated with adverse outcome; however, no correlations betwen mutation burden and clinical symptoms have hitherto been established. Our aim was to quantify KIT p.…
Serum baseline tryptase levels across chronic kidney disease stages: A retrospective report.
Chronic kidney disease (CKD) has been associated with elevated serum baseline tryptase (sBT) levels, which may exceed the standard reference value of less than 11.5 ng/mL as kidney function declines. This study aimed to characterize sBT levels across different CKD stages in a United States-based coh…
Non-immunoglobulin E-mediated mechanisms of anaphylaxis.
Anaphylaxis attributable to non-immunoglobulin E (IgE)-mediated mechanisms represents an increasingly recognized and clinically challenging subset of severe hypersensitivity reactions. This review synthesizes recent advances in the understanding of IgE-independent pathways, with emphasis on literatu…
KIT mutation and AHN-associated oncogenic profiles in systemic mastocytosis with an associated hematological neoplasm.
In 5% to 15% of patients with systemic mastocytosis (SM), SM coexists with an associated hematological neoplasm (AHN). Most patients with SM-AHN harbor a KIT mutation, mainly KIT p.D816V, together with other AHN-related genetic alterations; however, limited data exist about the frequency and clinica…
Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management.
Systemic mastocytosis (SM) results from clonal proliferation of mast cells (MC) in extra-cutaneous organs. The major criterion is the presence of multifocal MC clusters in the bone marrow and/or extracutaneous organs. Minor diagnostic criteria include elevated serum tryptase level, MC CD25/CD2/CD30…
Post-Hoc Long-Read Sequencing Links Leukemic Mutation Status to Single-Cell Transcriptomes.
Single-cell RNA-sequencing-based characterization of cells that belong to the neoplastic clone is a major challenge in hematologic neoplasms, where malignant and normal cells coexist. Confident molecular profiling requires simultaneous analysis of gene expression and genetic mutations in individual…
Diffuse osteosclerosis in a patient with systemic mastocytosis.
Osteosclerosis refers to an abnormal increase in bone density resulting from excessive bone formation and/or reduced bone resorption. We present a case of a 31-year-old woman with acute-on-chronic abdominal pain, flushing, and diarrhea. Diffuse, mottled sclerosis involving the entire axial and appen…
Infantile Maculopapular Cutaneous Mastocytosis: A Case Report with an Integrative Unani Medicine Perspective.
Mastocytosis is a rare disorder characterized by abnormal mast cell proliferation, with clinical manifestations ranging from isolated cutaneous disease to systemic involvement. In children, it most often presents as cutaneous mastocytosis (CM), which is a usually benign and self-limiting condition.…