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本研究检测非霍奇金淋巴瘤(NHL)患者BCL-2/IgH基因主要断裂区重排、IgH基因重排,并探讨其对疾病的早期诊断、疗效评价等方面的意义。分别提取70例NHL(60例B-NHL、10例T-NHL)、7例淋巴结炎性肿大患者、20名正常人的骨髓单个核细胞DNA,通过PCR方法检测BCL-2/IgH、IgH基因重排,以凝胶电泳出现相应条带者为阳性,并与患者病理组织学检查进行比较,探讨此两种基因重排发生的相关因素,比较化疗后的动态变化。结果表明,①30例弥漫大B细胞淋巴瘤患者(DLBCL)中,10例骨髓BCL-2/IgH重排阳性(33.3%),与30例其它B-NHL(除外滤泡淋巴瘤FL及DLBCL)阳性率(6.7%)、20名正常人阳性率(5%)比较均有显著性差异(p均<0.05)。所有T-NHL及7例淋巴结炎性肿大患者BCL-2/IgH重排均为阴性;②对8例BCL-2/IgH基因重排阳性患者进行动态监测,经2个疗程R-CHOP治疗后BCL-2/IgH基因重排明显减少,PCR半定量结果均值由初治0.59降至0.16(p<0.05),6个疗程R-CHOP治疗后PCR半定量均值为0,BCL-2/IgH基因重排完全转阴;③BCL-2/IgH基因重排阳性患者中LDH水平升高占81.8%,在重排阴性患者中占28.6%,两组间有统计学差异(p<0.05)。然而,BCL-2/IgH基因重排与淋巴瘤分期、是否伴有全身症状、β2-MG水平、骨髓侵犯、肝脏脾脏侵犯均无显著相关性;④20例DLBCL(均为初治)骨髓单个核细胞DNA检测显示,9例IgH基因重排阳性(45%);30例其它B-NHL(均为初治或复发患者,DLBCL除外)中14例IgH基因重排阳性(46.7%),其两组间无统计学差异性(p>0.05),但对照组20名正常人、10例T细胞淋巴瘤患者及7例淋巴结炎性肿大患者均为阴性;⑤对7例IgH基因重排阳性患者进行动态监测表明,1个疗程的R-CHOP治疗就能显著减少IgH基因重排,PCR半定量结果均值由初治0.42降至0.13(p<0.05),2个疗程后PCR半定量均值为0,重排完全消除;⑥IgH基因重排阳性患者中LDH水平升高占90%,在重排阴性患者中占30%,两组间有统计学差异(p<0.05);IgH基因重排与淋巴瘤分期、是否伴有全身症状、β2-MG水平、骨髓侵犯、肝脏脾脏侵犯均无显著相关性。结论:BCL-2/IgH、IgH基因重排均可作为B-NHL早期诊断及评价疗效的特异性指标,这两种重排均与LDH水平相关;BCL-2/IgH基因重排对DLBCL特异性较高。
This study was designed to determine the major rearrangements and IgH rearrangements of BCL-2 / IgH genes in patients with non-Hodgkin’s lymphoma (NHL) and to explore their significance in early diagnosis and evaluation of the disease. Bone marrow mononuclear cells were isolated from 70 patients with NHL (60 B-NHL, 10 T-NHL), 7 patients with inflammatory lymphadenopathy and 20 normal controls. The BCL-2 / IgH and IgH Gene rearrangement, the corresponding bands appear by gel electrophoresis were positive and compared with the patients histopathological examination to explore the relevant factors in the rearrangement of these two genes to compare the dynamic changes after chemotherapy. The results showed that: (1) BCL-2 / IgH rearrangements in 10 cases (33.3%) were positive in 30 patients with diffuse large B-cell lymphoma (DLBCL) and 30 cases with other B-NHL (excluding follicular lymphoma FL and DLBCL) Positive rate (6.7%), positive rate of 20 normal subjects (5%) were significantly different (all P <0.05). BCL-2 / IgH rearrangement was negative in all patients with T-NHL and in seven cases with lymphadenitis. ② Eight patients with positive BCL-2 / IgH rearrangement were monitored dynamically. After 2 courses of R-CHOP The rearrangement of BCL-2 / IgH gene was significantly reduced, the average value of semi-quantitative PCR results was decreased from 0.59 to 0.16 (p <0.05), and the semi-quantitative PCR was 6 after 6 cycles of R-CHOP treatment. Gene rearrangement completely negative; ③BCL-2 / IgH gene rearrangement positive patients with elevated LDH levels accounted for 81.8%, 28.6% of rearrangement negative patients, there was a significant difference between the two groups (p <0.05). However, there was no significant correlation between BCL-2 / IgH gene rearrangement and lymphoma staging, with systemic symptoms, β2-MG level, bone marrow invasion and hepatic spleen invasion. (4) In 20 cases of DLBCL Cell DNA tests showed that 9 cases of IgH gene rearrangements were positive (45%); 14 cases of IgH gene rearrangements were positive (46.7%) in 30 cases of other B-NHL (all newly diagnosed or relapsed patients, except DLBCL) There was no significant difference between the two groups (p> 0.05), but 20 normal controls, 10 T-cell lymphoma patients and 7 patients with lymphadenitis were negative. (5) Seven IgH gene rearrangements were positive Dynamic monitoring of patients showed that one course of R-CHOP treatment can significantly reduce the IgH gene rearrangement, PCR semi-quantitative results from the initial treatment 0.42 to 0.13 (p <0.05), after 2 cycles of PCR semi-quantitative mean 0, complete rearrangement; ⑥IgH gene rearrangement positive patients with elevated LDH levels accounted for 90% in rearrangement negative patients accounted for 30%, there was a significant difference between the two groups (p <0.05); IgH gene rearrangement and Lymphoma staging, with systemic symptoms, β2-MG levels, bone marrow invasion, liver spleen invasion were not significantly correlated. CONCLUSION: BCL-2 / IgH and IgH gene rearrangements can be used as specific markers for the early diagnosis and evaluation of B-NHL. Both rearrangements are related to LDH level. BCL-2 / IgH rearrangement is specific to DLBCL Sex is higher.