Systemic Mastocytosis

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…

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…

Progress in mast cell activation syndrome: the global consensus-2 diagnostic criteria at six years.

Since establishment in 2020 of the global consensus-2 diagnostic criteria for mast cell activation syndrome (MCAS), recognition of this prevalent disease, existing alongside rare cutaneous or systemic mastocytosis, has grown significantly. Despite this progress, some have continued using more restri…

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…

Comment on "Avapritinib improves cutaneous involvement in patients with indolent systemic mastocytosis: Results from the randomized, phase 2, interventional PIONEER study".

Depression in mastocytosis: A neglected dimension of a clonal mast cell disease.

Depression is a highly prevalent but underrecognized comorbidity in mastocytosis, a clonal mast cell disorder characterized by aberrant proliferation and activation of mast cells. Historically, depression in patients with mastocytosis was considered secondary to chronic illness or diagnostic delay.…

Infantile Mastocytoma: Clinical Presentation and Diagnostic Insights.

Mastocytosis is a heterogeneous group of disorders characterized by abnormal proliferation and accumulation of mast cells in one or more organs. Cutaneous mastocytosis (CM) is the most common form in children, with solitary mastocytoma representing a distinct subtype. Mastocytomas are generally beni…

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…