Systemic Mastocytosis

A 25-year evolution of systemic mastocytosis to mast cell leukemia: Cutaneous clues.

Extended multisystem manifestations of hereditary α-tryptasemia in an allergy center cohort.

Hereditary α-tryptasemia (HαT) is a common autosomal-dominant trait caused by additional copies of the gene TPSAB1 encoding for α-tryptase. This inheritance is the most common etiology for elevated basal serum tryptase (BST), occurring almost exclusively at BST ≥ 8 μg/…

Hidden in Plain Sight: Systemic Mastocytosis Manifesting as Isolated Hepatosplenomegaly in the Absence of Cutaneous and Classical Manifestations-A Case Report and Literature Review.

Systemic mastocytosis (SM) is a rare clonal myeloproliferative neoplasm typically characterized by cutaneous lesions and mediator-release symptoms. Presentations dominated by visceral organ involvement without skin findings are uncommon and pose a significant diagnostic challenge, often mimicking he…

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…

Psychometric evaluation of the Mastocytosis Symptom Severity Daily Diary (MS2D2) in adults with nonadvanced systemic mastocytosis (NonAdvSM).

This study evaluated the measurement properties and ability to detect clinically meaningful change of the Mastocytosis Symptom Severity Daily Diary (MS2D2), a patient-reported outcome instrument designed to measure symptom severity in adults with nonadvanced systemic mastocytosis (NonAdvSM). Psychom…

Unmasking Indolent Systemic Mastocytosis in Patients with Unexplained or Treatment-Refractory Osteoporosis: A Case Series with Diagnostic and Therapeutic Implications.

Indolent systemic mastocytosis (ISM) is an under-recognised cause of secondary osteoporosis, and skeletal fragility may be the only presenting feature, delaying diagnosis. We describe four adults referred to a tertiary endocrinology service for unexplained osteoporosis or low-trauma fractures, in wh…

Unresponsive Systemic Mastocytosis in a Young AML With RUNX1::RUNX1T1 Fusion With Rare KIT c.1255_1257delGAC Mutation: A Clinical Deadlock.

Systemic mastocytosis (SM) with associated acute myeloid leukemia (AML) is a rare malignancy usually linked to KIT p.D816V mutations. We report a 17-year-old female with RUNX1::RUNX1T1-positive AML and florid mast cell proliferation harboring a rare KIT exon 8 deletion (p.Asp419del). Diagnosis requi…