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滤泡型淋巴瘤中t(14;18)染色体易位的分析及其临床意义 被引量:1

Detection of t(14;18)chromosomal translocation in paraffin-embedded tissues of follicular lvmphoma and its clinical significance
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摘要 目的探讨滤泡型淋巴瘤(FL)的分子遗传学特征及其在病理诊断中的意义。方法收集55例 FL 石蜡标本,对照组小 B 细胞淋巴瘤28例和反应性滤泡增生(RFH)10例,应用套式 PCR技术检测 FL 中,免疫球蛋白重链基因(IgH)的克隆性重排;应用标准 PCR 技术检测55例 FL 中 t(14;18)易位,以10例 RFH 做对照;采用双色荧光原位杂交(FISH)技术检测20例淋巴结 FL 中 t(14;18)易位,以4例 RFH 作为对照;并与 PCR 检测结果进行比较。结果 (1)55例 FL 中,结内49例,结外6例。男性33例,女性22例,男女比为1.5:1。发病年龄36~79岁(中位年龄57岁);FL 分级:FL1~3分别为25例、19例和11例。(2)55例中50例(90%)检出β-肌动蛋白(actin),该50例中FR3A 阳性24例(48%),FR2阳性25例(50%),其中15例(30%)呈 FR3A 和 FR2双阳性,共34例(68%)IgH 基因重排。对照组小 B 细胞淋巴瘤28例中,25例检出β-actin,其中 FR3A 阳性18例(64%),FR2阳性17例(61%),共24例(86%)可检测出克隆性 IgH 基因重排。4例 RFH 均未检出IgH 基因重排。(3)在44例结内 FL 中检出15例(34%)t(14;18)易位,其中14例在 MBR,1例在mcr。(4)20例中,有16例(80%)可检出 t(14;18)易位。结论 (1)IgH 克隆性重排在 FL 中的检测率比其他小 B 淋巴细胞低。(2)FISH 检测石蜡包埋组织中 t(14;18)易位有助于 FL 的诊断。FISH 比PCR 的敏感性更好,操作简便,可用于检测石蜡包埋组织中的分子遗传学改变。 Objective To study the genetic aberrations and their pathologic significance in follicular lymphoma (FL). Methods Paraffin-embedded tissue samples of 55 cases of FL, 28 cases of other small B-cell lymphomas and 10 cases of reactive follicular hyperplasia were retrieved. Nested polymerase chain reaction (PCR) was used to detect clonal rearrangement of immunoglobulin heavy chain gene (IgH) in FL and other small B-cell lymphomas. The translocation t (14; 18 ) was studied by PCR and dual-color fluorescence in-situ hybridization (FISH) in FL. Cases of reactive follicular hyperplasia were used as controls. Results Amongst the 55 cases studied, 49 cases were nodal and 6 cases were extranodal. There were 33 males and 22 females. The male-to-female ratio was 1.5: 1. The median age of the patients was 57 years. Twenty-five cases belonged to histologic grade 1, while 19 cases were grade 2 and 11 cases were grade 3. Beta-actin DNA was detected in 50 cases of FL. Amongst those 50 cases, clonal IgH rearrangement was present in 34(68% ). Twenty-four cases (48%) and 25 cases (50%) were positive for FR3A and FR2 respectively. Fifteen cases (30%) showed dual positivity for both FR3A and FR2. Thirty-four cases (68%) demonstrated clonal IgH rearrangement. As for other small B-cell lymphomas, 25 cases were positive for beta-actin. FR3A and FR2 were detected in 18 and 17 cases respectively. Clonal IgH rearrangement was demonstrated in 24 cases. In contrast, none of the 4 cases of reactive follicular hyperplasia showed the clonal rearrangement pattern. Amongst the 44 cases of nodal FL analyzed, t(14;18) was detected in 15 cases (with ld cases in MBR and 1 case in mcr). In general, FISH was superior to PCR in detecting t (14;18) using paraffin-embedded tissue samples. Conclusions The detection rate of clonal IgH rearrangement in FL is lower than that in other small B-cell lymphomas. Demonstration of t(14;18) in paraffin-embedded tissue samples by FISH helps in diagnosis of FL. FISH is superior to PCR, as the technique is more sensitive and less labor intensive.
出处 《中华病理学杂志》 CAS CSCD 北大核心 2007年第9期600-604,共5页 Chinese Journal of Pathology
关键词 染色体易位 滤泡型淋巴瘤 PCR技术检测 临床意义 IGH基因重排 小B细胞淋巴瘤 分子遗传学改变 免疫球蛋白重链基因 Lymphoma, mixed-cell, follicular Gene rearrangement, B-lymphocyte, heavychain Translocation, genetic
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参考文献17

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