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本研究报告4例大颗粒淋巴细胞白血病(LGLL)的免疫基因诊断及mTOR阻断剂西罗莫司治疗的效果,并结合国内外报道的有较完整资料的256例患者进行分析。LGLL均以外周血淋巴细胞绝对值高、粒细胞减少或(和)贫血为主要表现。除常规外周血检查和骨髓细胞形态分类外,本院患者采用了流式细胞术(FCM)分析T细胞受体β链V区(TCR BV)24家族,CD3、CD4、CD8、TCRαβ、TCRγδ等表达;RT-PCR扩增做TCR基因谱型图,分析异常细胞的克隆性;同时首次把西罗莫司(sirolimus)用于常规治疗无效的患者。结果表明,本院和文献中患者除外周血淋巴细胞绝对值高外,欧美患者以粒细胞缺乏为主,国内患者以纯红细胞再生障碍为主要表现。本院2例患者的大颗粒淋巴细胞辨别困难;FCM检测发现,淋巴细胞中以CD3+CD8+细胞为主,TCR BV呈单克隆分布;逆转录PCR扩增TCR BV 24基因家族与FCM结果一致;用西罗莫司(首剂6 mg口服,维持剂量2 mg/d)治疗1周后,血红蛋白、网织红细胞升高明显。结论:FCM检测特异性TCR BV单克隆淋巴细胞有利于LGLL确诊。西罗莫司可试用于LGLL患者治疗。
This study reports 4 cases of large granulocytic leukemia (LGLL) immune gene diagnosis and mTOR blocker effect of sirolimus treatment, combined with domestic and foreign reports of more complete data of 256 patients were analyzed. LGLL are high in absolute values of peripheral blood lymphocytes, neutropenia or (and) anemia as the main performance. In addition to routine peripheral blood tests and bone marrow cell morphological classification, flow cytometry (FCM) was used to analyze TCR BV 24 family, CD3, CD4, CD8, TCRαβ, TCRγδ, etc. The RT-PCR was used to amplify the genotype of TCR gene and analyze the clonality of abnormal cells. At the same time, sirolimus was used for the first time in patients with routine therapy failure. The results showed that in our hospital and in the literature, patients with peripheral blood lymphocytes in absolute high value, the European and American patients with agranulocytosis, the domestic patients with pure red blood cell aplasia as the main performance. FCM showed that CD3 + CD8 + cells predominated in lymphocytes, and TCR BV showed a monoclonal distribution. The TCR BV 24 gene family amplified by reverse transcription PCR was consistent with FCM results. With sirolimus (the first dose of 6 mg orally, the maintenance dose of 2 mg / d) for 1 week after treatment, hemoglobin, reticulocyte increased significantly. Conclusion: The detection of specific TCR BV monoclonal lymphocytes by FCM is favorable for the diagnosis of LGLL. Sirolimus can be tested in LGLL patients.