[Detection and application of bcl-2/IgH gene translocation and immunoglobulin gene rearrangement in follicular lymphoma]

Zhonghua Bing Li Xue Za Zhi. 2018 Jun 8;47(6):423-426. doi: 10.3760/cma.j.issn.0529-5807.2018.06.007.
[Article in Chinese]

Abstract

Objective: 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 χ(2) 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.

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χ(2)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(r(p)=-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。.

Keywords: Gene rearrangement; In situ hybridization, fluorescence; Lymphoma, follicular.

MeSH terms

  • Chromosome Aberrations
  • Gene Rearrangement*
  • Genes, Immunoglobulin / genetics*
  • Genes, Immunoglobulin Heavy Chain / genetics
  • Genes, Immunoglobulin Light Chain / genetics
  • Humans
  • Lymphoma, Follicular / genetics*
  • Oncogene Proteins, Fusion / genetics
  • Polymerase Chain Reaction
  • Translocation, Genetic*

Substances

  • BCL2-IgH fusion protein, human
  • Oncogene Proteins, Fusion