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伴有髓外化生的骨髓纤维化中细胞遗传学异常的预后差异。

Prognostic diversity among cytogenetic abnormalities in myelofibrosis with myeloid metaplasia.

作者信息

Tefferi Ayalew, Dingli David, Li Chin-Yang, Dewald Gordon W

机构信息

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.

出版信息

Cancer. 2005 Oct 15;104(8):1656-60. doi: 10.1002/cncr.21358.

Abstract

BACKGROUND

Approximately 30-50% of patients with myelofibrosis with myeloid metaplasia (MMM) demonstrate detectable cytogenetic abnormalities, the prognostic value of which has not been completely defined by previous retrospective studies. The current prospective study addresses this issue in the context of currently accepted independent prognostic variables.

METHODS

The current study is a single institution study in which patients with MMM were accrued between January 2000 and August 2001 and followed in a prospective fashion. All study patients underwent bone marrow examination with cytogenetic studies as well as comprehensive clinical and laboratory evaluation at the time of karyotype analysis.

RESULTS

Among the study cohort of 81 patients (with a median age of 61 years; 54 males), the cytogenetic findings were normal in 44 patients (54%; Group 1). The remaining 37 patients (46%) demonstrated either interstitial deletions involving the long arm of chromosome 13 or 20 (9 patients; Group 2) or other abnormalities (28 patients; Group 3). All study patients were followed prospectively for a minimum of 40 months (range, 40-55 months). Survival from the time of karyotypic analysis was found to be similar between Groups 1 and 2 but was significantly worse in Group 3. Furthermore, none of the patients in Group 2 experienced leukemic transformation, whereas five patients each from the other two groups did. Multivariate analysis identified an unfavorable cytogenetic profile (Group 3), > or = 1% circulating blasts, a hemoglobin level of <10 g/dL, and constitutional symptoms as adverse prognostic features for overall survival.

CONCLUSIONS

Specific cytogenetic lesions in patients with MMM might carry an independent prognostic effect for both survival and the risk of leukemic transformation. Such information should assist in decision making when considering aggressive treatment approaches.

摘要

背景

约30%-50%的骨髓纤维化伴髓外化生(MMM)患者存在可检测到的细胞遗传学异常,既往回顾性研究尚未完全明确其预后价值。本前瞻性研究在当前公认的独立预后变量背景下探讨了这一问题。

方法

本研究为单中心研究,于2000年1月至2001年8月纳入MMM患者并进行前瞻性随访。所有研究患者在进行核型分析时均接受了骨髓细胞遗传学检查以及全面的临床和实验室评估。

结果

在81例研究队列患者中(中位年龄61岁;男性54例),44例患者(54%)细胞遗传学结果正常(第1组)。其余37例患者(46%)表现为涉及13号或20号染色体长臂的间质缺失(9例;第2组)或其他异常(28例;第3组)。所有研究患者均接受了至少40个月(范围40-55个月)的前瞻性随访。发现第1组和第2组从核型分析时起的生存率相似,但第3组明显较差。此外,第2组患者均未发生白血病转化,而其他两组各有5例患者发生。多因素分析确定不良细胞遗传学特征(第3组)、循环原始细胞≥1%、血红蛋白水平<10 g/dL以及全身症状是总生存的不良预后特征。

结论

MMM患者的特定细胞遗传学病变可能对生存和白血病转化风险具有独立的预后影响。这些信息在考虑积极治疗方案时应有助于决策。

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