单克隆IgH基因重排检测在B-NHL诊断和随访中的意义

目的　评价单克隆IgH基因重排检测在恶性淋巴瘤 (B NHL)临床中的应用价值。方法　用半巢式PCR检测单克隆IgH基因重排。病例组为B NHL ,包括 6 9例石蜡包埋组织切片、治疗前 16例骨髓和 2 9例外周血、阳性者治疗后复查骨髓和外周血 ;对照组为 10例慢性淋巴结炎、3例T NHL和 2例HD。结果　对照组均阴性。病例组 :切片中单克隆IgH基因重排阳性率为 6 3.8% (44 / 6 9) ;骨髓和外周血阳性率分别为 43 .8%(7/ 16 )和 41.4% (12 / 2 9) ,细胞形态学检查未见异常细胞者阳性率分别为 33 .3% (3/ 9)和 31.3% (5 / 16 )。 16例同时采集骨髓和外周血者 ,阳性率分别为 43 .8% (7/ 16 )和 37.5 % (6 / 16 ) ,两者无统计学差异。治疗前单克隆IgH重排阳性者 ,6例完全缓解 (CR)后转阴 ,处于持续缓解状态 ,1例临床缓解后 13个月仍阳性 ,现在继续随访中 ,另 1例CR后持续阳性者 ,6个月后复发。结论　切片、骨髓和外周血中检测单克隆IgH基因重排可以作为B NHL诊断和随访微小残留病灶的辅助手段

Semi-nested PCR analysis of IgH-gene rearrangements in the diagnosis and follow-up of B-NHL

Objective To investigate the clinical value immunoglobulin of heavy chain(IgH) gene rearrangements in the diagnosis and follow up of B NHL. Methods Seminested polymerase chain reaction (PCR) was used to detect the clonal IgH gene rearrangements. The specimens were obtained from the patients of B NHL, including 69 paraffin embedded tissue sections, 16 bone marrow and 29 peripheral blood smears before clinical treatments. The bone marrow and peripheral blood smears were reexamined after treatment for the positive cases. 10 chronic lymphadenitis, 3 T NHL and 2 HD were selected as control group. Results All control cases showed negative results. The positive rate of IgH gene rearrangement in specimens of B NHL cases was 63.8% (44/69). The positive rate of IgH gene rearrangement in bone marrow and peripheral blood smears was 43.8% (7/16) and 41.4% (12/29), respectively. Whereas in patients without showing morphological abnormalities, the positive rate was 33.3% (3/9) and 31.3% (5/16), respectively. In the patients with bone marrow and peripheral blood smears obtained simultaneously, the positive rate of IgH gene rearrangement was 43.8% (7/16) and 37.5% (6/16) respectively, however there was no statistical difference between them. In the patients with positive IgH rearrangement pre treatment, six cases of whom IgH rearrangement had became negative after CR, were still in persistent remission. In one case, IgH rearrangement was still detectable 13 months after clinical remission, he was still in follow up. Another case with positive IgH rearrangement after CR relapsed 6 months later. Conclusion The detection of IgH rearrangement can be an adjuvant tool for diagnosis of B NHL and detection of minimal residual disease.