Systemic mastocytosis


Authors: M. Doubek 1;  T. Kozák 2;  V. Vašků 3;  P. Szturz 1;  M;  Tichá 1;  L. Křen 4
Authors‘ workplace: Interní hematoonkologická klinika Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Jiří Mayer, CSc. 1;  Oddělení klinické hematologie FN Královské Vinohrady Praha, přednosta prim. doc. MUDr. Tomáš Kozák, CSc., MBA 2;  1. dermatovenerologická klinika Lékařské fakulty MU a FN u sv. Anny Brno, přednosta doc. MUDr. Vladimír Vašků, CSc. 3;  Ústav patologie Lékařské fakulty MU a FN Brno, pracoviště Bohunice, přednosta doc. MUDr. Josef Feit, CSc. 4
Published in: Vnitř Lék 2010; 56(Supplementum 2): 188-194
Category: Langerhans cell histiocytosis and some other Hematology rare diseases

Overview

Systemic mastocytosis is a heterogenous disorder characterized by abnormal growth and accumulation of abnormal mast cells in one or more organs. Mast cells are derived from CD34+/KIT+ pluripotent hematopoietic cells in the bone marrow. Most adult mastocytosis patients carry gain-of-function c-kit receptor mutations, most commonly D816V in the tyrosine kinase domain. The clinical phenotype of systemic mastocytosis is variable. Many of patients are suffering from urticaria pigmentosa, followed by the flushing, cramping, abdominal pain, diarrhea, bone pain and hepatosplenomegaly. Most adult patients have systemic disease (a condition generally confirmed by bone marrow biopsy). The natural history of systemic mastocytosis ranges from indolent forms to very aggressive subtypes.

Key words:
diagnostics – KIT – management – masitinib – systemic mastocytosis


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