BIOMED-2体系检测免疫球蛋白重链基因重排在黏膜相关淋巴组织结外边缘区B细胞淋巴瘤诊断中的应用

 【摘要】　目的　探讨BIOMED-2标准化体系检测免疫球蛋白重链（IGH）基因重排对黏膜相关淋巴组织结外边缘区B细胞淋巴瘤（MALT淋巴瘤）诊断的应用价值。方法　45例标本包括不同部位原发的MALT淋巴瘤36例、淋巴结外淋巴组织增生性病变3例、幽门螺杆菌（HP）感染相关性重度胃炎6例。用DNA提取试剂盒从石蜡包埋组织中提取所选病例的基因组DNA，通过BIOMED-2体系质控混合引物检测其质量，应用IGH VH-JH 3组引物组合进行IGH基因克隆性重排检测；比较分析该体系在MALT淋巴瘤诊断中的敏感性和特异性。结果　45例中31例（MALT淋巴瘤22例，淋巴组织增生性病变3例、重度胃炎6例）提取的基因组DNA可扩增出300 bp片段，其余14例DNA均严重降解。22例MALT淋巴瘤中，16例检测出IGH基因重排，灵敏度为72.7 %；6例严重胃炎病例未检测出IGH克隆性重排，其特异度是100 %；3例淋巴组织增生性病变中1例检测出IGH克隆性重排，2例未检测出重排。结论　在MALT淋巴瘤的诊断和淋巴组织增生性疾病的鉴别诊断中，BIOMED-2标准化体系检测IGH基因克隆性重排是一种快速可靠的方法，具有重要的临床应用价值。

Application of BIOMED-2 system for the detection of IGH gene rearrangement in extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue lymphoma diagnosis

Objective To evaluate the efficiency of BIOMED-2 system in detecting IGH gene clonal rearrangement and application in diagnosis of extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue （MALT） lymphoma. Methods Forty-five eases were collected, including 36 MALT lymphomas from different organs, 3 extranodal lymphoid tissue proliferative lesions and 6 severe gastritis associated with H pylori. DNA was extracted from the formalin fixed paraffin embedded blocks of these cases and the quality of DNA was assessed using the BIOMED-2 specimen mixed control primers. IGH gene clonal rearrangement was detected using IGH VH-JH primers. The sensitivity and specificity of BIOMED-2 PCR were analyzed. Results Adequate DNA （≥300 bp） was obtained in 31 of 45 samples （including 22 MALT lymphomas, 3 lymphoid tissue proliferative lesions and 6 severe gastritis）, and the DNA from the other 14 samples was degraded seriously. 16 of 22 MALT lymphomas were positive of IGH clonal rearrangement with the sensitivity of 72.7 %. In contrast, none of 6 severe gastritis was positive with the specificity of 100 % IGH and elonal rearrangement were detected in one of 3 lymphoid tissue proliferative lesions. Conclusion BIOMED-2 assay is an efficient and reliable method for diagnosis and differential diagnosis of MALT lymphoma which is important for clinical practical value.