Soucie Erinn, Brenet Fabienne, Dubreuil Patrice
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.
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.
Mol Immunol. 2015 Jan;63(1):55-60. doi: 10.1016/j.molimm.2014.03.013. Epub 2014 Apr 24.
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.
肥大细胞增多症是一种无法治愈且有时致命的血液系统疾病，大致描述为骨髓和其他器官中异常肥大细胞的积累，导致组织和器官损伤。这种疾病的临床表现极具变异性；疾病表型从惰性到侵袭性不等，且常伴有相关的非肥大细胞血液系统疾病（AHNMD），主要是骨髓增殖性肿瘤和骨髓增生异常综合征。最近，为了从基因层面剖析界定侵袭性和非侵袭性肥大细胞增多症的机制，已在肥大细胞增多症患者中生成了一份复发性体细胞突变清单，这些突变与侵袭性疾病表型相关且可能预测其发展。在此，我们回顾这些突变，并讨论与这些突变相关的分子机制，以便更好地理解这种疾病的生物学特性，并预测其发病和发展，最终目标是设计出新的、更有效的治疗策略。
