Hematopathology and Laboratory Medicine, H Lee Moffitt Cancer Center and Research Institute, Tampa, FL, USA.
Hematology Section, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA.
Leuk Res. 2013 Apr;37(4):401-409. doi: 10.1016/j.leukres.2012.11.021. Epub 2013 Jan 22.
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.
毛细胞白血病（HCL）和毛细胞白血病变异型（HCL-v）是两种罕见疾病，具有重叠的临床和病理特征。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），将结果与可获得的相应临床和形态学数据进行了关联。FCM 基于联合 B 细胞标志物（CD19、CD20、CD22）表达的四种抗原（CD11c、CD25、CD103、CD123），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，并且均匀缺乏 CD25（100%）。HCL 表达明亮的 CD20、明亮的 CD22、明亮的 CD11c、明亮的 CD25、CD103 和明亮均匀的 CD123（100%）。在 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 CD103（-）和 CD123（-），除了一个病例呈暗淡的 CD123。HCL 骨髓浸润明显大于 HCL-v。大多数 HCL-v 中观察到明显的核仁，但在 HCL 中很少见。三分之一的 HCL 和 HCL-v 骨髓呈低细胞或发育不良样。在一部分病例中检测了 BRAFV600E 突变和膜联蛋白 A1，以进一步验证 FCM 诊断标准。HCL-v 对膜联蛋白 A1（100%）和 BRAFV600E 突变（100%）均呈阴性，而 HCL 则呈阳性（膜联蛋白 A1 阳性率为 74%；BRAFV600E 突变阳性率为 76%）。HCL-v 对传统的 HCL 治疗具有耐药性，因此准确诊断至关重要。我们已经定义了用于区分 HCL-v 与 HCL 和 SMZL 的 FCM 标准。
