Assessing real-world natural history of indolent systemic mastocytosis: A retrospective matched cohort study.
Indolent systemic mastocytosis (ISM) is the most common form of systemic mastocytosis, accounting for more than 80% of cases. Patients with ISM experience severe, unpredictable symptoms, including potentially life-threatening anaphylaxis. As a chronic condition, understanding its longitudinal natura…
Hereditary alpha-tryptasemia demonstrates relative basophil enrichment without signs of cellular hyperreactivity.
Hereditary alpha-tryptasemia (HαT) is an autosomal dominant trait caused by increased tryptase alpha/beta 1 (TPSAB1) copy number, resulting in elevated serum tryptase levels. Although often asymptomatic, HαT is associated with anaphylaxis, flushing, and connective tissue abnormalities. A…
Myeloid neoplasms with mutated KIT: comparative clinicopathologic analysis of D816 vs. non-D816 variants.
KIT mutations are recurrent genetic alterations in myeloid neoplasms (MNs), with the D816 hot-spot variant recognized as a poor prognostic marker in acute myeloid leukemia (AML) with RUNX1::RUNX1T1 and as a diagnostic criterion for systemic mastocytosis (SM). In contrast, the clinical and biological…
Indolent Systemic Mastocytosis Presenting with Consecutive Vertebral Fragility Fractures despite Normal Bone Mineral Density: A Case Report and Mechanistic Review.
Indolent systemic mastocytosis (ISM) is a rare clonal mast-cell disorder that may present with skeletal involvement, driven by mast-cell mediator-induced osteoclast activation. Vertebral fragility fractures can occur even in the presence of normal bone mineral density (BMD), making early diagnosis c…
CAR T-cells targeting CD117 effectively eliminate mast cells in preclinical models of advanced systemic mastocytosis.
Systemic mastocytosis (SM) is characterized by uncontrolled expansion of neoplastic mast cells (MCs) and their accumulation in various tissues and organs, ranging from indolent variants to more advanced forms (advSM). Although several MC- and SM-expressed cell surface antigens have been identified,…
Five-Year Real-World Outcomes of Hymenoptera Venom Immunotherapy: Clinical Effectiveness and Immunological Modifications.
Hymenoptera venom allergy is a cause of anaphylaxis, which significantly affects patients' daily lives due to the constant fear of accidental stings. Venom immunotherapy (VIT) is the only treatment capable of preventing severe systemic reactions (SSRs). Limited long-term real-life data are available…
Clinical Spectrum of Drug Hypersensitivity Reactions in Systemic Mastocytosis: Drug-Induced Anaphylaxis as a Unique Clinical Presentation.
Background and Objectives: Systemic mastocytosis (SM) is a clonal mast cell disorder characterized by abnormal mast cell accumulation and activation in multiple organs, leading to mediator-related symptoms, including anaphylaxis. Drug hypersensitivity reactions (DHRs) are a major clinical challenge…
Low BMD is uncommon in pediatric mastocytosis: a DEXA- based cohort study.
Mastocytosis is a disorder characterized by abnormal mast cell proliferation, leading to cutaneous mastocytosis (CM) or systemic mastocytosis (SM) when internal organs are affected. While adult mastocytosis is associated with osteoporosis, data on bone mineral density (BMD) in children are lacking.…