Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes
Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes
复制标题
DOI：
10.1016/j.jaci.2009.10.020
复制
发表时间：
2010-03-01
影响因子：
14.2
通讯作者：
Orfao, Alberto
中科院分区：
文献类型：
--
作者：
Teodosio, Cristina;Garcia-Montero, Andres C.;Orfao, Alberto
背景：系统性肥大细胞增多症（SM）是一组具有不同临床和生物学行为的异质性疾病。尽管如此，对SM不同诊断类别的免疫表型特征知之甚少。目的：分析不同亚型SM的骨髓（BM）肥大细胞（MCs）的免疫表型特征。方法：采用流式细胞术分析123例不同亚型SM患者和92例对照者的骨髓标本的广泛免疫表型标志物。三个明显不同的成熟相关的免疫表型配置文件中发现骨髓基质细胞SM。这些不同的谱与疾病的遗传标记及其临床行为相关。来自SM（侵袭性SM和MC白血病）的预后不良类别的BMMC通常表现出不成熟表型，其通过D816 V干细胞生长因子受体基因（KIT）突变克隆性地涉及所有髓系。反过来，在预后良好的SM亚型患者中，通常发现成熟的激活型与静息型BMMC免疫表型，这取决于他们是否携带（惰性SM和克隆性MC活化障碍）或否（高分化SM）D816 V KIT突变。来自SM的骨髓MC显示3种不同的成熟-与疾病的遗传标记及其临床行为相关的相关免疫表型谱。（J Allergy Clin Immunol 2010;125：719-26.）
Background: Systemic mastocytosis (SM) is a heterogeneous group of disorders with distinct clinical and biological behavior. Despite this, little is known about the immunophenotypic features of the distinct diagnostic categories of SM.Objective: To analyze the immunophenotypic characteristics of bone marrow (BM) mast cells (MCs) of different subtypes of SM.Methods: Bone marrow samples from 123 patients with different subtypes of SM and 92 controls were analyzed for a broad panel of immunophenotypic markers by flow cytometry.Results: Three clearly different maturation-associated immunophenotypic profiles were found for BMMCs in SM. These different profiles were associated with both genetic markers of the disease and its clinical behavior. BMMCs from poor-prognosis categories of SM (aggressive SM and MC leukemia) typically showed an immature phenotype with clonal involvement of all myeloid lineages by the D816V stem cell growth factor receptor gene (KIT) mutation. In turn, a mature activated versus resting BMMC immunophenotype was commonly found among patients with good-prognosis subtypes of SM depending on whether they carried (indolent SM and clonal MC activation disorders) or not (well differentiated SM) the D816V KIT mutation.Conclusion: Bone marrow MCs from SM show 3 different maturation-related immunophenotypic profiles that are associated with both the genetic markers of the disease and its clinical behavior. (J Allergy Clin Immunol 2010;125:719-26.)