Distinguishing hairy cell leukemia variant from hairy cell leukemia: development and validation of diagnostic criteria.

Distinguishing hairy cell leukemia variant from hairy cell leukemia: development and validation of diagnostic criteria.
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区分毛状细胞白血病与毛状细胞白血病:诊断标准的发展和验证。

DOI:
10.1016/j.leukres.2012.11.021
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发表时间:
2013-04
期刊:
影响因子:
2.7
通讯作者:
Yuan CM
Yuan CM
中科院分区:
医学3区
文献类型:
--
作者:
Shao H;Calvo KR;Grönborg M;Tembhare PR;Kreitman RJ;Stetler-Stevenson M;Yuan CM

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毛细胞白血病(HCL)和毛细胞白血病变异型(HCL-v)是具有重叠临床病理特征的罕见疾病。我们对 213 例病例(169 例 HCL、35 例 HCL-v、9 例脾边缘区淋巴瘤 (SMZL))进行了流式细胞术分析 (FCM),将结果与现有的相应临床和形态学数据相关联。 FCM 仅根据四种抗原(CD11c、CD25、CD103、CD123)结合 B 细胞标记物(CD19、CD20、CD22)的表达将 HCL-v 与 HCL 和 SMZL 区分开来。 HCL-v表达明亮的CD20、明亮的CD22、CD11c(100%)、CD103(100%)、暗淡(40%)或阴性(60%)CD123,并且一致缺乏CD25(100%)。 HCL表达明亮的CD20、明亮的CD22、明亮的CD11c、明亮的CD25、CD103和明亮的同质CD123(100%)。 HCL/HCL-v中分别观察到CD5(2%/3%)、CD10(12%/3%)、CD23(21%/11%)、CD38(14%/0%)、CD2(2%/9%)、CD4(0.5%/0%)和CD13(0.5%/3%)的异常表达。 SMZL 病例除 1 例 CD123 暗淡外,均为 CD103(−) 和 CD123(−)。 HCL 显示出比 HCL-v 显着更大的骨髓浸润。在大多数 HCL-v 中观察到突出的核仁,但在 HCL 中很少观察到。三分之一的 HCL 和 HCL-v 骨髓细胞减少或表现为再生障碍。在部分病例中检测 BRAFV600E 突变和膜联蛋白 A1,以进一步验证 FCM 诊断标准。 HCL-v 的膜联蛋白 A1 (100%) 和 BRAFV600E 突变 (100%) 均为阴性,而 HCL 则相反(膜联蛋白 A1 74% 阳性;BRAFV600E 突变 76% 阳性)。 HCL-v 对传统 HCL 疗法具有抵抗力,因此准确诊断势在必行。我们已经定义了用于区分 HCL-v 与 HCL 和 SMZL 的 FCM 标准。
Hairy cell leukemia (HCL) and hairy cell leukemia-variant (HCL-v) are rare diseases with overlapping clinico-pathological features. We performed flow cytometry analysis (FCM) of 213 cases (169 HCL, 35 HCL-v, 9 splenic marginal zone lymphoma (SMZL)), correlating results with available corresponding clinical and morphological data. FCM distinguished HCL-v from HCL and SMZL based solely upon expression of four antigens (CD11c, CD25, CD103, CD123) combined with B-cell markers (CD19, CD20, CD22). HCL-v expressed bright CD20, bright CD22, CD11c(100%), CD103(100%), dim(40%) or negative(60%) CD123, and uniformly lacked CD25(100%). HCL expressed bright CD20, bright CD22, bright CD11c, bright CD25, CD103, and bright homogeneous CD123(100%). Aberrant expression of CD5(2%/3%), CD10(12%/3%), CD23(21%/11%), CD38(14%/0%), CD2(2%/9%), CD4(0.5%/0%) and CD13(0.5%/3%), was observed in HCL/HCL-v, respectively. SMZL cases were CD103(−) and CD123(−) except for one case with dim CD123. HCL showed significantly greater marrow infiltration over HCL-v. Prominent nucleoli were observed in most HCL-v but rarely in HCL. A third of HCL and HCL-v marrows were hypocellular or aplastic-appearing. Detection of BRAFV600E mutation and annexin A1 were examined in a subset of cases to further validate FCM diagnostic criteria. HCL-v was negative for both annexin A1 (100%) and BRAFV600E mutation (100%), in contrast to HCL (74% positive for annexin A1; 76% positive for BRAFV600E mutation). HCL-v is resistant to traditional HCL therapy, making accurate diagnosis imperative. We have defined FCM criteria for differentiation of HCL-v from HCL and SMZL.
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