【摘要】 目的：探讨以组织病理为基础，以骨髓或外周血标本检测为重要补充的多种检测方法在套细胞淋巴瘤（MCL）综合诊断中的价值。方法：回顾性分析2009年5月至2022年9月就诊于本院血液科的153例初诊套细胞淋巴瘤患者临床及实验室资料。结果：149例初发时行骨髓或外周血IGH/CCND1间期FISH检查的MCL患者中144例（96.6%）检测阳性，其中36例（24.2%）表现为低比例阳性。115例行流式细胞免疫分型检查，免疫表型符合MCL者89例（77.4%），初步诊断为B淋巴细胞增殖性疾病（B-LPD）23例（20.0%）。75例行骨髓病理检查，50例（66.7%）形态及组化特点符合MCL,15例（20.0%）归为B-LPD，另有10例未见明显异常。77例行组织病理检查，73例（94.8%）符合MCL典型特点，包括2例CCND1阴性MCL,2例多形性MCL,5例MCL母细胞变异型，4例诊断为其它淋巴瘤白血病。153例MCL中，128例为经典MCL(cMCL),25例（16.3%）诊断为白血病性非淋巴结型MCL(lnnMCL)。IGHV突变、TP53突变、CD23阳性3项指标在cMCL与lnnMCL中的发生率具有显著性差异（P<0.05）。结论：组织病理检查仍是cMCL诊断的主要标准，以基于骨髓或外周血标本的检测是lnnMCL诊断的重要手段。单一标志物或检查均会造成一定比例的漏诊或误诊，MCL的精准诊断依赖多种检测手段的组合。更多还原

【Abstract】 Objective:To explore the value of multiple detection methods based on histopathology and supplemented by bone marrow or peripheral blood sample detections in the comprehensive diagnosis of mantle cell lymphoma(MCL).Methods:The clinical,immunophenotypic,pathologic,cytogenetic and molecular features of153newly diagnosed MCL patients admitted to the hematology department of our hospital from May2009to September2022were analyzed.Results: 144(96.6%)of the149MCL patients who underwent marrow or peripheral blood IGH/CCND1 FISH detection at initial diagnosis were positive,of which36cases( 24.2%)had a low proportion positive. The immunophenotypes in115patients were analyzed by flow cytometry(FCM), 89cases(77.4%)conformed to MCL while23cases(20.0%)were initially diagnosed as B-cell lymphoproliferative disorders(B-LPD). Of the75cases who performed bone marrow biopsy, 50cases(66.7%)had morphological and immunophenotypic characteristics consistent with MCL, 15cases(20.0%)were classified as B-LPD,and10cases with no obvious abnormality.77patients underwent histopathology examination,of which73cases(94.8%)had typical clinicopathological features of MCL,including2CCND1 negative MCL, 2pleomorphic variants, 5pleomorphic variants and4cases diagnosed as other leukemia or lymphoma. Among153cases of MCL, 128cases were classic MCL(cMCL),and another25cases(16. 3%)were diagnosed as leukemic non-lymph node MCL(lnnMCL). The incidence of IGHV mutation,TP53mutation and CD23expression positive were significantly different between cMCL and lnnMCL. Conclusion:Histopathology is still the main standard for the diagnosis of cMCL,and detection based on bone marrow or peripheral blood samples is an important means for the diagnosis of lnnMCL. Single marker or examination can cause a certain proportion of misdiagnosis. The accurate diagnosis of MCL depends on a combination of multiple detection methods.更多还原