多色流式细胞术免疫表型分析在系统性肥大细胞增多症的诊断中具有高度的敏感性和特异性，可以识别异常的肥大细胞。
Multicolor flow cytometric immunophenotyping is highly sensitive and specific in identifying aberrant mast cells in the diagnostic workup of systemic mastocytosis.
机构信息
Pathology & Laboratory Medicine Division, University of Texas MD Anderson Cancer Center, Houston, TX, US.
Department of Hematopathology, Division of Pathology-Lab Medicine Division, University of Texas MD Anderson Cancer Center, Houston, TX, US.
出版信息
Am J Clin Pathol. 2024 Jun 3;161(6):598-608. doi: 10.1093/ajcp/aqad187.
OBJECTIVES
Flow cytometric immunophenotyping (FCI) is a fast and sensitive method for characterizing hematolymphoid neoplasms. It is not widely used in the workup of systemic mastocytosis (SM), in part because of the technical challenges and in part because the utility of FCI in assessing mast cells is not well understood. The objectives of this study were to assess the diagnostic utility of FCI in establishing a diagnosis of SM and distinguishing SM from nonneoplastic mast cells and to examine the immunophenotypic findings among SM subtypes.
METHODS
We performed FCI on bone marrow samples suspicious for SM using a panel consisting of CD2, CD25, CD30, CD45, CD117, and HLA-DR.
RESULTS
The cohort included 88 SM cases: 67 without an associated hematologic neoplasm (AHN) (PureSM) and 21 with an AHN (SM-AHN). We also assessed 40 normal/reactive controls. Overall, FCI was adequate for interpretation in 87 of 88 (99%) cases and detected at least 1 immunophenotypic aberrancy in 100% of SM cases. CD2, CD25, and CD30 were positive in 78%, 98%, and 90% of SM cases vs 0%, 13%, and 13% of cases with normal/reactive mast cells (P < .0001 for all). Two or 3 abnormalities were observed in 92% of SM cases but not in normal/reactive mast cells. Among SM cases, SM-AHN showed statistically significant less CD2 (38% vs 91%, P < .0001) and less co-expression of all 3 aberrant markers (CD2, CD25, and CD30 positive in 38% vs 86% of cases; P < .0001) than PureSM. Immunohistochemical analysis showed consistently weaker or focal expression of CD2, CD25, and CD30 than FCI, with CD2 and CD30 being falsely negative in 40% and 50% cases, respectively. A KIT D816V mutation was detected in 67% of PureSM cases and 76% of SM-AHN cases.
CONCLUSIONS
Flow cytometric immunophenotyping is a quick, sensitive, high-yield tool for evaluating the immunophenotype of mast cells. An abnormal FCI finding should prompt careful histologic evaluation and sensitive KIT D816V mutation testing to address the possibility of SM. CD2, CD25, and CD30 are important markers for the detection of immunophenotypic aberrancy of mast cells, and their frequencies of aberrancy differ across SM subtypes.
目的
流式细胞免疫表型分析（FCI）是一种快速而敏感的方法，用于描述血液淋巴肿瘤。它在系统性肥大细胞增多症（SM）的检查中并未广泛应用，部分原因是技术挑战，部分原因是 FCI 评估肥大细胞的实用性尚未得到很好的理解。本研究的目的是评估 FCI 在建立 SM 诊断和区分 SM 与非肿瘤性肥大细胞方面的诊断效用，并研究 SM 亚型的免疫表型发现。
方法
我们使用包含 CD2、CD25、CD30、CD45、CD117 和 HLA-DR 的试剂盒对疑似 SM 的骨髓样本进行 FCI。
结果
该队列包括 88 例 SM 病例：67 例无相关血液肿瘤（AHN）（PureSM）和 21 例有 AHN（SM-AHN）。我们还评估了 40 例正常/反应性对照。总体而言，88 例中的 87 例（99%）可以进行充分的解释，并且 100%的 SM 病例中至少检测到 1 种免疫表型异常。CD2、CD25 和 CD30 在 SM 病例中的阳性率分别为 78%、98%和 90%，而在正常/反应性肥大细胞中为 0%、13%和 13%（所有 P<0.0001）。92%的 SM 病例中观察到 2 或 3 种异常，但在正常/反应性肥大细胞中未观察到。在 SM 病例中，SM-AHN 显示出统计学上显著更低的 CD2（38% vs. 91%，P<0.0001）和所有 3 种异常标记物的共表达（CD2、CD25 和 CD30 阳性的病例为 38% vs. 86%；P<0.0001），而 PureSM 则没有。免疫组织化学分析显示 CD2、CD25 和 CD30 的表达比 FCI 更弱或呈局灶性，CD2 和 CD30 的假阴性率分别为 40%和 50%。在 67%的 PureSM 病例和 76%的 SM-AHN 病例中检测到 KIT D816V 突变。
结论
流式细胞免疫表型分析是一种快速、敏感、高产出的工具，可用于评估肥大细胞的免疫表型。异常的 FCI 发现应促使仔细进行组织学评估和敏感的 KIT D816V 突变检测，以确定是否存在 SM。CD2、CD25 和 CD30 是检测肥大细胞免疫表型异常的重要标志物，它们的异常频率在不同的 SM 亚型中有所不同。
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