Systemic mastocytosis is a heterogeneous disease characterized by the accumulation of neoplastic mast cells in the bone marrow and other organ organs/tissues. Mutations in KIT, most frequently KIT D816V, are detected in over 80% of all systemic mastocytosis patients. While most systemic mastocytosis patients suffer from an indolent disease variant, some present with more aggressive variants, co...

BACKGROUND Patients with mastocytosis and wasp venom allergy (WA) may benefit from venom immunotherapy (VIT). However, fatal insect sting reactions have been described in mastocytosis patients despite previous immunotherapy. We investigated the safety and efficacy of (rush) VIT in patients with mastocytosis and WA. OBJECTIVE To investigate the safety and efficacy of (rush) VIT in patients wit...

AHNMD: associated clonal hematologic none mast cell lineage disease CM: cutaneous mastocytosis CMML: chronic myelomonocytic leukemia MPCM: maculopapular cutaneous mastocytosis SM: systemic mastocytosis INTRODUCTION Maculopapular cutaneous mastocytosis (MPCM) is the clinical variant of cutaneous mastocytosis (CM) most frequently observed in adults, usually within the context of an indolent syste...

BACKGROUND Systemic mastocytosis with an associated hematologic non-mast cell lineage disease is a rare entity, and the majority of systemic mastocytosis cases are associated with myeloid neoplasm. Lymphoproliferative disorders are less commonly associated with systemic mastocytosis and a few cases of systemic mastocytosis associated with chronic lymphocytic leukemia have been described in the ...

Serum (or plasma) levels of total and mature tryptase measurements are recommended in the diagnostic evaluation of systemic anaphylaxis and systemic mastocytosis, but their interpretation must be considered in the context of a complete workup of each patient. Total tryptase levels generally reflect the increased burden of mast cells in patients with all forms of systemic mastocytosis (indolent ...

BMAT: bone marrow aspirate and trephine CM: cutaneous mastocytosis CT: computed tomography UP: urticaria pigmentosa SM: systemic mastocytosis TMEP: telangiectasia macularis eruptive perstans WHO: World Health Organization INTRODUCTION Diagnosis of mastocytosis is frequently delayed given the variable clinical phenotypes at presentation. Here we present a case of a 64-year-old woman diagnosed wi...

Systemic mastocytosis is characterized by bone marrow involvement, which requires a bone marrow biopsy for diagnostic work-up. We questioned whether bone marrow involvement could be predicted using biochemical markers. We selected patients with various symptoms suggestive of indolent systemic mastocytosis, of whom 63 ultimately had bone marrow involvement. Patients suspected of aggressive masto...

| 6 | haematologica | 2008; 93(1) Current classification and diagnosis of systemic mastocytosis, and its distinction from other myeloid malignancies associated with bone marrow mastocytosis, remain challenging for both clinicians and hematopathologists. In its upcoming revision, due out in 2008, the World Health Organization (WHO) classification system for myeloid malignancies considers mast ce...

Background Mastocytosis is a rare disease of bone marrow-derived hematopoietic progenitor cells, which is characterized by abnormal growth and excessive accumulation of mast cells in various tissues. Cutaneous Mastocytosis is a skin limited disease, whereas Systemic Mastocytosis usually involves bone marrow, spleen, liver, lymph nodes and gastrointestinal tract and may present with or without s...

BACKGROUND/AIMS The occurrence of myeloid leukaemia in patients with systemic mastocytosis is a well recognised phenomenon. However, the pathophysiological basis of such a coevolution has not been clarified. Recent data have shown that the c-kit mutation Asp 816 to Val is detectable in neoplastic mast cells in most patients with systemic mastocytosis, including those who have associated haemato...