Systemic Mastocytosis

Chronic Myelomonocytic Leukemia: History, Pathobiology, Diagnostic Controversies, and Evolving Classification.

Chronic myelomonocytic leukemia (CMML) is a clonal myelodysplastic/myeloproliferative neoplasm characterized by sustained monocytosis, recurrent gene mutations, and a risk of transformation to acute myeloid leukemia (AML). This review examines the historical evolution of CMML as a diagnostic entity,…

Co-occurring systemic mastocytosis and T-lymphoblastic lymphoma driven by a novel cryptic JAKMIP2::PDGFRB rearrangement.

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Bone fragility in mastocytosis: Clinical insights from a 5-patient retrospective case series.

ObjectiveThis retrospective case series aimed to describe 36-month skeletal, biochemical, safety, and patient-reported outcomes in five postmenopausal women with mastocytosis treated with denosumab.MethodsA technical expert panel (TEP) retrospectively evaluated five consecutive eligible patients wit…

Subtype-specific outcome after allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis: a registry study of the European competence network on mastocytosis.

Advanced systemic mastocytosis (AdvSM), comprising aggressive systemic mastocytosis, mast cell leukemia, and systemic mastocytosis with an associated hematological neoplasm, is a heterogeneous myeloid neoplasm with poor prognosis. Allogeneic hematopoietic cell transplantation (allo-HCT) remains the…

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

Objective Sleep Assessment in Systemic Mastocytosis: Polysomnographic Findings from a Single-Center Observational Study.

Background/Objectives: Systemic mastocytosis (SM) is a rare clonal mast cell disorder associated with mediator-related symptoms and a broad range of neurocognitive and sleep-related complaints. Fatigue, insomnia, and brain fog are frequently reported in clinical practice, but objective polysomnograp…

Development of a High-Sensitivity Multiplex mRNA-Based KIT D816V Droplet Digital PCR Assay and Correlation with Tumor Load in Systemic Mastocytosis.

Detecting a KIT D816V mutation in patients with systemic mastocytosis (SM) needs a high-sensitivity assay. Additionally, high mutant KIT transcriptional activity and multilineage involvement are strong unfavorable prognostic parameters in SM. The current frequently used quantitative PCR-based KIT D8…

Germline EZH2 mutation cooperates with somatic KIT D816V to drive early pediatric advanced systemic mastocytosis.