摘要
目的探讨Castleman病(CD)基因重排检测分析及其在鉴别诊断中的应用。方法对组织学形态典型的36例CD和不典型疑为CD的11例,进行免疫球蛋白(Ig)和T细胞受体(TCR)基因重排检测及结果分析。结果 36例CD病理组织学分型:透明血管型(HV)29例,浆细胞型(PC)4例及混合型(mixed/HV-PC)3例。根据临床病变累及部位分型:局限型(LCD)19例,多中心型(MCD)17例。11例可疑CD中LCD 3例,MCD 6例,未分型2例。基因重排分析结果:28例DNA质量≥300 bp,其中19例CD中1例IgH发生克隆性重排,9例可疑CD中3例IgH发生克隆性重排,1例IgH和TCRG均发生克隆性重排,另有1例TCRB和TCRG均发生克隆性重排。19例DNA质量<300bp的病例均为胚系构型。28例有效检测病例中24例具有完整随访资料,其中4例克隆性重排者和19例胚系构型者随访均生存,1例胚系构型者随访至28个月时死亡。结论基因重排分析对CD的鉴别诊断有一定帮助,Ig和/或TCR基因发生克隆性重排提示单克隆性增生具有恶性转化趋势和潜能,对推测预后有一定意义。
Objective To investigate the characters of gene rearrangement in Castleman’s disease（CD） and the application in differential diagnosis.Methods 36 definite CD with typical characters of morphology and 11 suspicious cases with atypical morphology were collected for immunoglobulin（Ig） and T-cell receptor（TCR） gene rearrangement analysis.Results Among 36 cases of CD,29 cases were hyalinovascular variants（HV-CD）,4 cases were plasma cell variants（PC-CD）,and the other 3 cases were mixed type（mixed CD）.According to clinical features,19 cases were localized Castleman’s disease（LCD）,17 cases were multicentric Castleman’s disease（MCD）.Among 11 suspicious CD cases,3 cases were LCD,6 cases were MCD and 2 cases had no clinical data.6 in 28 cases,of which DNA quality was more than 300 bp,showed positive results.1 of 19 CD cases had a clonal rearrangement of the Ig genes（1/19,5.3%）,3 of 9 suspicious CD cases had clonal rearrangements of the Ig genes,1 of 9 suspicious CD cases had both Ig and TCR gene clonal rearrangements,and 1 of 9 suspicious CD cases had TCR gene clonal rearrangement（5/9,55.6%）.19 cases with DNA quality less than 300 bp showed germline configurations.We got the complete follow-up data in all the 28 cases.Among the 24 cases,23 cases（4 cases with clonal rearrangements and 19 cases with germline configurations） survived until August 2012,when the follow-up ended.1 case with germline configuration died 28 months after surgery.Conclusions Gene rearrangement analysis of Ig and TCR is valuable in differential diagnosis of CD,and positive results of clonal rearrangement imply malignant trends.As a result,gene rearrangement analysis has significances to predict the prognosis of CD.
出处
《诊断病理学杂志》
CSCD
北大核心
2013年第7期397-400,共4页
Chinese Journal of Diagnostic Pathology
关键词
CASTLEMAN病
基因重排
鉴别诊断
Castleman’s disease
Gene clonal rearrangement
Differential diagnosis
