Format

Send to

Choose Destination
Mol Immunol. 2015 Jan;63(1):55-60. doi: 10.1016/j.molimm.2014.03.013. Epub 2014 Apr 24.

Molecular basis of mast cell disease.

Author information

1
Inserm U1068, Centre de Recherche en Cancérologie de Marseille, Signalisation, Hématopoïèse et Mécanismes de l'Oncogenèse, Centre de Référence des Mastocytoses, Institut Paoli-Calmettes, Aix-Marseille Université UM 105, CNRS, UMR7258, Marseille, France. Electronic address: erinn.soucie@inserm.fr.
2
Inserm U1068, Centre de Recherche en Cancérologie de Marseille, Signalisation, Hématopoïèse et Mécanismes de l'Oncogenèse, Centre de Référence des Mastocytoses, Institut Paoli-Calmettes, Aix-Marseille Université UM 105, CNRS, UMR7258, Marseille, France.
3
Inserm U1068, Centre de Recherche en Cancérologie de Marseille, Signalisation, Hématopoïèse et Mécanismes de l'Oncogenèse, Centre de Référence des Mastocytoses, Institut Paoli-Calmettes, Aix-Marseille Université UM 105, CNRS, UMR7258, Marseille, France. Electronic address: patrice.dubreuil@inserm.fr.

Abstract

Mastocytosis is an incurable and sometimes fatal haematological disorder grossly described as the accumulation of abnormal mast cells in the bone marrow and other organs causing tissue and organ damage. The clinical manifestations of this disease are extremely variable; disease phenotypes range from indolent to aggressive, and often present with associated non-mast cell haematological disorders (AHNMD), mainly myeloproliferative neoplasm and myelodysplastic syndromes. Recent efforts to genetically dissect the mechanisms that define aggressive and non-aggressive mastocytosis have generated a list of recurrent somatic mutations in mastocytosis patients that are associated with and may predict the evolution towards aggressive disease phenotypes. Here we review these mutations and discuss the molecular mechanisms associated with these mutations in an effort to better understand the biology of this disease and to predict its onset and evolution, with the ultimate goal of devising new and improved treatment strategies.

KEYWORDS:

Epigenetic; Mast cells; Mastocytosis; Mutations; Splicing

PMID:
24768320
DOI:
10.1016/j.molimm.2014.03.013
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center