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尽管外周血中无毛细胞但通过流式细胞术诊断的毛细胞白血病:一例报告

Hairy Cell Leukemia Diagnosed by Flow Cytometry Despite Absence of Hairy Cells in Peripheral Blood: A Case Report.

作者信息

Nakano Kotaro, Fukatsu Yusuke, Oka Shinichiro, Takahashi Takumi

机构信息

Hematology, Iwata City Hospital, Iwata, JPN.

出版信息

Cureus. 2025 Jul 22;17(7):e88536. doi: 10.7759/cureus.88536. eCollection 2025 Jul.

DOI:10.7759/cureus.88536
PMID:40851693
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12370212/
Abstract

Hairy cell leukemia (HCL) is a rare disease, and detecting hairy cells in peripheral blood is an essential initial step in its diagnosis. Flow cytometry (FCM) is a convenient and effective tool for assessing the immunophenotype, even without distinctive morphological features. We describe a case of HCL; primary myelofibrosis was initially suspected, but FCM findings ultimately led to the diagnosis of HCL. A 47-year-old male patient was admitted to the hospital with progression of pancytopenia, and splenomegaly was noted. The initial pathology report on bone marrow biopsy noted only MF-1 fibrosis. FCM examination showed positivity for CD19, CD20, CD11c, and CD25, and light-chain restriction. Bone marrow biopsy images showed fried egg-like cells, and V600E mutation was also positive, leading to the diagnosis of HCL. The patient was treated with cladribine and rituximab and achieved hematological recovery. This case highlights the usefulness of FCM for the diagnosis of HCL in the presence of splenomegaly, pancytopenia, and myelofibrosis, even though hairy cells may be absent in peripheral blood.

摘要

毛细胞白血病(HCL)是一种罕见疾病,在外周血中检测毛细胞是其诊断的重要初始步骤。流式细胞术(FCM)是评估免疫表型的便捷有效工具,即使没有明显的形态学特征也适用。我们描述了一例HCL病例;最初怀疑为原发性骨髓纤维化,但FCM结果最终确诊为HCL。一名47岁男性患者因全血细胞减少进展及脾肿大入院。骨髓活检的初步病理报告仅显示MF-1纤维化。FCM检查显示CD19、CD20、CD11c和CD25呈阳性,且存在轻链限制。骨髓活检图像显示有煎蛋样细胞,V600E突变也呈阳性,从而确诊为HCL。该患者接受了克拉屈滨和利妥昔单抗治疗并实现血液学缓解。该病例突出了FCM在存在脾肿大、全血细胞减少和骨髓纤维化情况下对HCL诊断的有用性,即便外周血中可能不存在毛细胞。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/a62b87a7b3ca/cureus-0017-00000088536-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/fa0bfd7850da/cureus-0017-00000088536-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/540598232539/cureus-0017-00000088536-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/a62b87a7b3ca/cureus-0017-00000088536-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/fa0bfd7850da/cureus-0017-00000088536-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/540598232539/cureus-0017-00000088536-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4df3/12370212/a62b87a7b3ca/cureus-0017-00000088536-i03.jpg

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