摘要
目的 探讨检测免疫球蛋白重链 (immunoglobulinsheavy chain ,IgH)基因重排及bcl 2 /JH融合基因在眼眶淋巴细胞增生性疾病诊断中的意义。方法 对 1994年 1月至 1999年 12月我院通过手术或活检取得的 4 8例眼眶淋巴细胞增生性疾病患者眼眶组织的石蜡标本行光镜、免疫组织化学检查及聚合酶链反应 (PCR)扩增IgH可变区第三框架区 (thirdframeworkregion ,FR3)基因重排及bcl 2 /JH融合基因检测分析。结果 FR3重排的PCR扩增显示 2 2例标本为淋巴细胞单克隆增生。恶性淋巴瘤、良性反应性淋巴细胞增生及淋巴细胞性炎性假瘤的阳性率分别为 75 0 %、4 0 0 %及 16 7%。bcl 2 /JH融合基因的PCR扩增示恶性淋巴瘤的阳性率为 30 0 % ,良性反应性淋巴细胞增生及淋巴细胞性炎性假瘤患者检查结果均为阴性。结论 PCR扩增的FR3基因重排检测对诊断眼眶淋巴细胞增生性疾病有重要价值 ;bcl 2 /JH 融合基因检测阳性率偏低 。
Objective To determine whether polymerase chain reaction (PCR) for the assay of B cell gene rearrangement in patients with orbital lymphoproliferative disorders could be useful in the diagnosis of lymphoma, especially in differentiating a benign lesion from a malignant one. Methods In addition to clinical, pathological and immunohistochemical evaluations, 48 cases of orbital lymphoproliferative disorders were examined for immunoglobulin heavy chain (IgH) gene rearrangement and bcl 2/J H fuse gene rearrangement by means of PCR to amplify the third frame work region (FR3) and bcl 2/J H fuse gene with formalin fixed and paraffin embedded tissues. Results The PCR using primer FR3A showed that 22 cases had discrete single products, which were within the molecular weight range of 100 to 120 bp, and were therefore interpreted as monoclonal. The positive rates of FR3 region of IgH gene rearrangement in patients with malignant lymphoma, benign reactive lymphoid hyperplasia and lymphocytic inflammatory pseudotumor were 75 0% (15/20), 40 0% (4/10) and 16 7% (3/18) respectively. The four patients with simultaneously bilateral ocular adnexal lymphoid neoplasm exhibited identical clonal IgH gene rearrangement patterns. A faint smear pattern or no band at all was demonstrated in the remaining 26 cases, representing polyclonal populations of lymphoid cells. The PCR using bcl 2 primer showed that 6 cases had discrete single products that were within the molecular weight range of 100 to 300 bp, and were interpreted as having bcl 2/J H fuse gene. They were 2 cases of follicular B cell lymphomas, 1 case of diffuse mixed large and small cell B lymphoma and 3 cases of diffuse small cell B lymphoma. A faint smear pattern or no band at all was demonstrated in the remaining 17 cases of lymphomas, lymphocytic inflammatory pseudotumor and benign reactive lymphoid hyperplasia. The positive rates of bcl 2/J H fuse gene rearrangement in patients with malignant lymphoma, benign reactive lymphoid hyperplasia and lymphocytic inflammatory pseudotumor were 30 0% (6/20), 0% (0/10), and 0% (0/18), respectively. Conclusions Molecular genetic analysis by PCR using the FR3A primer is helpful in the diagnosis of orbital lymphoproliferative disorders, especially those in which the diagnosis can not be made by routine histopathological finding and immunohistochemistry evaluation. However, the rate of bcl 2/J H fuse gene rearrangement is too low to be suitable for clinical diagnosis of orbital lymphoproliferative disorders.
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2002年第7期388-391,I007-001,共5页
Chinese Journal of Ophthalmology
关键词
免疫球蛋白重链
眶疾病
淋巴组织增殖性疾病
基因重排
BCL-2
Orbital diseases
Lymphoproliferative disorders
Immunoglobulins, heavy chain
Gene rearrangement
Genes, bcl 2
