Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors
Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors
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DOI：
10.1182/blood-2009-02-205237
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发表时间：
2009-06-04
期刊：
影响因子：
20.3
通讯作者：
Pardanani, Animesh
中科院分区：
文献类型：
--
作者：
Lim, Ken-Hong;Tefferi, Ayalew;Pardanani, Animesh
系统性肥大细胞增多症(SM)的临床表型具有明显的多样性，这使得治疗的选择和时机的选择和决策变得复杂。在1976年至2007年间在梅奥诊所就诊的连续342名成年SM患者的回顾性研究中，根据世界卫生组织(WHO)的建议，159例(46%)为惰性(ISM)，138例(40%)为克隆性血液性非肥大细胞系疾病(SM-AHNMD)，41例(12%)为侵袭性(ASM)，4例(1%)为肥大细胞白血病。等位基因特异性聚合酶链式反应(PCR)在165例患者的骨髓DNA中检出KITD816V占68%(ISM，78%；ASM，82%；SM-AHNMD，60%；P=0.03)；JAK2V617F在SM-AHNMD中检出4%，均为SM-AHNMD。与那些患有非惰性SM的人相比，ISM患者的预期寿命更高，并且与年龄和性别匹配的美国人口没有显著差异。此外，多变量分析确定高龄、体重减轻、贫血、血小板减少、低蛋白血症和骨髓母细胞过多是影响生存的独立不良预后因素。目前的研究证实了世卫组织SM亚类的预后相关性，并在风险分层和对临床表现和实验室结果的解释方面提供了更多有价值的信息。(血。2009；113：5727-5736)
Clinical phenotype in systemic mastocytosis (SM) is markedly variable, which complicates prognostication and decision making regarding the choice and timing of therapy. In a retrospective study of 342 consecutive adult patients with SM seen at the Mayo Clinic between 1976 and 2007, disease subdesignation according to the World Health Organization ( WHO) proposal was indolent ( ISM) in 159 (46%), with associated clonal hematologic nonmast cell lineage disease (SM-AHNMD) in 138 (40%), aggressive (ASM) in 41 (12%), and mast cell leukemia in 4 (1%). KITD816V was detected in bone marrow-derived DNA by allele-specific polymerase chain reaction (PCR) in 68% of 165 patients evaluated ( ISM, 78%; ASM, 82%; SM-AHNMD, 60%; P = .03); JAK2V617F was detected in 4%, all in SM-AHNMD. Compared with those with nonindolent SM, life expectancy in ISM was superior and not significantly different from that of the age- and sex-matched US population. In addition, multivariable analysis identified advanced age, weight loss, anemia, thrombocytopenia, hypoalbuminemia, and excess bone marrow blasts as independent adverse prognostic factors for survival. The current study validates the prognostic relevance of the WHO subclassification of SM and provides additional information of value in terms of both risk stratification and interpretation of clinical presentation and laboratory results. (Blood. 2009; 113: 5727-5736)