Prognosis in adult indolent systemic mastocytosis: A long-term study of the Spanish Network on Mastocytosis in a series of 145 patients
Prognosis in adult indolent systemic mastocytosis: A long-term study of the Spanish Network on Mastocytosis in a series of 145 patients
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DOI：
10.1016/j.jaci.2009.05.003
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发表时间：
2009-09-01
影响因子：
14.2
通讯作者：
Orfao, Alberto
中科院分区：
文献类型：
--
作者：
Escribano, Luis;Alvarez-Twose, Ivan;Orfao, Alberto
背景：惰性系统性肥大细胞增多症是一组罕见疾病，其进展和结果仍缺乏可靠的预测因子。目的：我们在此研究采用保守治疗随访的惰性系统性肥大细胞增多症成人患者的临床、生物学、表型、组织病理学和分子疾病特征对预后的影响。方法：1983 年 1 月至 2008 年 7 月期间对 145 名连续患者进行前瞻性随访；此外，还对 1967 年至 1983 年期间的 20 名患者进行了回顾性研究。结果：多变量分析表明，血清 β2-微球蛋白 (P = .003) 以及肥大细胞以及骨髓和淋巴造血谱系中肥大/干细胞生长因子受体基因 (KIT) 突变的存在 (P = .02) 是预测疾病进展的独立参数的最佳组合（疾病进展的累积概率） 5-10 年为 1.7% +/- 1.2%，20-25 年为 8.4% +/- 5.0%）。关于总体生存率，最佳预测模型包括年龄 >60 岁 (P = .005) 和相关克隆性血液学非肥大细胞疾病 (P = .03) 的发展，5 岁时的累积死亡概率为 2.2% +/- 1.3%，25 岁时的累积死亡概率为 11% +/- 5.9%。结论：成人惰性系统性肥大细胞增多症的疾病进展率较低，大多数患者具有正常的预期寿命，所有造血谱系中都存在 KIT 突变，并且血清 β2-微球蛋白增加是预测疾病转变为更具侵袭性形式的最有力的独立参数。 （过敏临床免疫杂志 2009 年；124：514-21。）
Background: Indolent systemic mastocytosis is a group of rare diseases for which reliable predictors of progression and outcome are still lacking.Objective: Here we investigate the prognostic impact of the clinical, biological, phenotypic, histopathological, and molecular disease characteristics in adults with indolent systemic mastocytosis, who were followed using conservative therapy.Methods: A total of 145 consecutive patients were prospectively followed between January 1983 and July 2008; in addition, from 1967 to 1983, 20 patients were retrospectively studied.Results: Multivariate analysis showed that serum beta 2-microglobulin (P = .003) together with the presence of mast/stem cell growth factor receptor gene (KIT) mutation in mast cells plus myeloid and lymphoid hematopoietic lineages (P = .02) was the best combination of independent parameters for predicting disease progression (cumulative probability of disease progression of 1.7% +/- 1.2% at 5-10 years and of 8.4% +/- 5.0% at 20-25 years). Regarding overall survival, the best predictive model included age >60 years (P = .005) and development of an associated clonal hematological non-mast cell disorder (P = .03) with a cumulative probability of death of 2.2% +/- 1.3% at 5 years and of 11% +/- 5.9% at 25 years.Conclusions: Indolent systemic mastocytosis in adults has a low disease progression rate, and the great majority of patients have a normal life expectancy, with the presence of KIT mutation in all hematopoietic lineages and increased serum beta 2-microglobulin the most powerful independent parameters for predicting transformation into a more aggressive form of the disease. (J Allergy Clin Immunol 2009;124:514-21.)