摘要目的 探讨bcl-2/IgH基因易位及免疫球蛋白(Ig)H/L基因重排检测在滤泡性淋巴瘤(FL)不同分级中的应用.方法 应用荧光原位杂交(FISH)法检测了广东省人民医院病理科2014年9月至2016年12月收集的32例FL bcl-2/IgH基因易位状态,同时应用聚合酶链反应(PCR)-GeneScan法检测了32例FL免疫球蛋白重链/轻链(IgH/L)基因重排,统计分析bcl-2/IgH基因易位状态与肿瘤分级、克隆性IgH/L基因重排的关系.结果 32例FL石蜡标本,bcl-2/IgH基因易位17例,其中,FL1、FL2易位的发生比例分别为12/13、3/5,而FL3易位的发生比例仅为2/14;24例IgH/L基因重排阳性,其中,FL1基因重排的检出比例为7/13,FL2、FL3重排的检出比例分别为4/5、13/14.Spearman等级相关检验和 χ2检验结果显示,bcl-2/IgH基因易位与FL的分级存在显著负相关关系(rp=-0.661),bcl-2/IgH基因易位率随着肿瘤分级的增加而降低,FL1、2和FL3中表达差异有统计学意义(P<0.05);而IgH/L基因重排在FL3中的检测率高于FL1、2,有效地弥补了单纯FISH检测bcl-2/IgH基因易位的缺陷.结论 联合FISH和PCR-GeneScan检测提高了FL分子诊断的阳性率,比单纯FISH检测染色体异常或单纯重排检测更灵敏,为FL疑难病例的诊断和鉴别诊断提供了更加准确和客观的科学依据.

abstractsObjective To evaluate the application of FISH testing of bcl-2/ IgH gene translocation and IgH/ L gene rearrangement in different stages of follicular lymphoma. Methods In 32 follicular lymphoma cases, which were collected at Guangdong General Hospital from September 2014 to December 2016, the bcl-2/ IgH gene ectopic state was detected by FISH while the IgH/ L gene rearrangement was tested using PCR-GeneScan to analyze the relationship between bcl-2/ IgH gene translocation, different stages of follicular lymphoma and clonal immunoglobulin (IgH/ L) gene rearrangements. Results From the paraffin sections of all 32 follicular lymphomas, 17 cases showed bcl-2/ IgH gene translocation, and the percentages of FL1, FL2 and FL3 translocation were 12/ 13, 3/ 5 and 2/ 14, respectively. Among the 24 cases of IgH/ L gene arrangements identified from the total sample, the occurrence rates of FL1, FL2 and FL3 gene arrangement were 7/ 13, 4/ 5 and 13/ 14, respectively. Spearman's rank correlation analysis and χ2 analysis showed that bcl-2/ IgH gene translocation was negatively correlated with follicular lymphoma stage and the association was statistically significant. In more advanced stages of follicular lymphoma, the occurrence of bcl-2/ IgH gene translocation tended to decrease with distinct FL1, FL2 and Fl3 gene expression (P<0. 05). As IgH/ L gene rearrangement in FL3 was higher than that in FL1 and FL2, its detection may be complimentary to FISH test for bcl-2/ IgH gene translocation in diagnosing follicular lymphoma. Conclusions The combined use of FISH and PCR-GeneScan increases the positive rate of follicular lymphoma diagnosis, and this combination is more sensitive than FISH or clonal analysis only to detect the chromosomal abnormality or the gene rearrangement.