肺原发性MALT型淋巴瘤API2-MALT1融合基因的检测及意义

Detection of API2-MALT1 fusion gene transcript and its diagnostic value in pulmonary MALT lymphoma

目的 探讨在MALT淋巴瘤石蜡组织中检测API2 MALT1融合基因的可行性及API2 MALT1融合基因mRNA表达在肺MALT淋巴瘤诊断中的意义。方法 收集肺MALT淋巴瘤石蜡包埋组织标本 10例 ,以慢性淋巴结炎石蜡包埋组织标本 5例作阴性对照 ,β 肌动蛋白作内对照 ,用逆转录 聚合酶链反应 (RT PCR)和巢式PCR结合 ,检测肺MALT淋巴瘤中API2 MALT1融合基因的mRNA表达。结果 10例肺MALT淋巴瘤均检出内对照β actin的mRNA表达 ,3例检出API2 MALT1融合基因的mRNA表达 ,被检出的 3例病变均局限在一侧肺组织 ,单个病灶最大径小于 5cm。其中 2例出现不同程度的呼吸道症状 ,1例为体检发现 ,所有慢性淋巴结炎病例均未检出融合基因的表达。结论通过RT PCR和PCR扩增结合的方法检测石蜡包埋组织中API2 MALT1融合基因的表达是完全可行的 ,API2

Objective To investigate the feasibility of detecting API2-MALT1 fusion gene transcript in paraffin-embedded tissue and its diagnostic value for pulmonary MALT lymphoma. Methods Ten archival cases of pulmonary MALT lymphoma were selected and reviewed. Five archival cases of chronic lymphadenitis were used as negative control. Detection of the API2-MALT1 fusion transcript was performed by RT-PCR followed by second-round PCR using nested primers. β-actin mRNA assay was utilized as an internal control in all samples. Result β-actin was detected in all samples (100%). The API2-MALT1 fusion transcript was found in 3 of 10 pulmonary MALT lymphomas (30%) and in none of the 5 chronic lymphadenitis cases. The pulmonary lesions in the fusion gene positive cases were all single tumors of less than 5.0 cm in diameter and limited to either the right or left of the lung. Conclusion Detection of API2-MALT1 fusion transcript in paraffin-embedded tissues is feasible by nested RT-PCR and is of diagnostic value. The presence of API2-MALT1 fusion gene may be correlated with a subset of pulmonary MALT lymphomas that have limited lung involvement.