中华病理学杂志
中華病理學雜誌
중화병이학잡지
Chinese Journal of Pathology
2010年
9期
595-599
,共5页
赵菁%赵静%蔡莺莺%毛洁%杨开颜%陈国荣%周韧
趙菁%趙靜%蔡鶯鶯%毛潔%楊開顏%陳國榮%週韌
조정%조정%채앵앵%모길%양개안%진국영%주인
淋巴瘤,大细胞,弥漫型%生发中心%原癌基因蛋白质c-bcl-6%易位,遗传%突变
淋巴瘤,大細胞,瀰漫型%生髮中心%原癌基因蛋白質c-bcl-6%易位,遺傳%突變
림파류,대세포,미만형%생발중심%원암기인단백질c-bcl-6%역위,유전%돌변
Lymphoma,large-cell,diffuse%Germinal center%Proto-oncogene proteins c-bcl-6%Translocation,genetic%Mutation
目的 分析弥漫性大B细胞淋巴瘤(DLBCL)中bcl-6基因5'非编码区突变频率及与其生发中心B细胞(GCB)型的相关性.方法 对60例DLBCL行套式PCR检测t(14;l8)易位,并经免疫组织化学EnVision两步法进行GCB和非GCB分子分型.PCR扩增bcl-6主要突变区,测序检测突变位点.结果 60例中7例(11.7%)发生t(14;18)易位,为主要断裂点发生转位;联合免疫组织化学分析和t(14;18)易位检测,筛选出GCB型18例和非GCB型42例;5'非编码区总突变率为20.0%(12/60),GCB型突变率为7/18,非GCB型突变率为11.9%(5/42);+363和+469位点频繁发生突变.结论 DLBCL的bcl-65'非编码区发生突变频率较国外低,突变多发生于GCB型中.t(14;18)易位检测有助于DLBCL的分子分型.
目的 分析瀰漫性大B細胞淋巴瘤(DLBCL)中bcl-6基因5'非編碼區突變頻率及與其生髮中心B細胞(GCB)型的相關性.方法 對60例DLBCL行套式PCR檢測t(14;l8)易位,併經免疫組織化學EnVision兩步法進行GCB和非GCB分子分型.PCR擴增bcl-6主要突變區,測序檢測突變位點.結果 60例中7例(11.7%)髮生t(14;18)易位,為主要斷裂點髮生轉位;聯閤免疫組織化學分析和t(14;18)易位檢測,篩選齣GCB型18例和非GCB型42例;5'非編碼區總突變率為20.0%(12/60),GCB型突變率為7/18,非GCB型突變率為11.9%(5/42);+363和+469位點頻繁髮生突變.結論 DLBCL的bcl-65'非編碼區髮生突變頻率較國外低,突變多髮生于GCB型中.t(14;18)易位檢測有助于DLBCL的分子分型.
목적 분석미만성대B세포림파류(DLBCL)중bcl-6기인5'비편마구돌변빈솔급여기생발중심B세포(GCB)형적상관성.방법 대60례DLBCL행투식PCR검측t(14;l8)역위,병경면역조직화학EnVision량보법진행GCB화비GCB분자분형.PCR확증bcl-6주요돌변구,측서검측돌변위점.결과 60례중7례(11.7%)발생t(14;18)역위,위주요단렬점발생전위;연합면역조직화학분석화t(14;18)역위검측,사선출GCB형18례화비GCB형42례;5'비편마구총돌변솔위20.0%(12/60),GCB형돌변솔위7/18,비GCB형돌변솔위11.9%(5/42);+363화+469위점빈번발생돌변.결론 DLBCL적bcl-65'비편마구발생돌변빈솔교국외저,돌변다발생우GCB형중.t(14;18)역위검측유조우DLBCL적분자분형.
Objective To investigate the mutation of 5' non-coding region of bcl-6 gene in germinal center B-cell (GCB)subtype of diffuse large B-cell lymphoma(DLBCL). Methods t(14;18) detection and immunohistochemical staining (EnVision method) were performed in 60 cases of DLBCL, which were divided into GCB and non-GCB subtypes. Polymerase chain reaction (PCR) , single-strand conformation polymorphism and direct DNA sequencing were used to identify mutations in the 5' non-coding region of the bcl-6 gene. Results Seven of 60 cases showed t(14;18) translocation in the major breakpoint region. Using minimally acceptable criteria, 18 of 60 cases were probably to be germinal centre derived. Bcl-6 mutations were detected in 12 of 60 cases (20. 0%) of DLBCL, with a significantly higher frequency in the GCBsubgroups (7/18) than in the non-GCB subgroups (11.9%, 5/42) . Bcl-6 mutations occurred most frequently in + 363 and + 469 sites. An association of bcl-6 mutation and GCB subgroup was obtained.Conclusions The 5' regulatory region of the bcl-6 gene underwent less frequent somatic hypermutation during lymphomagenesis than the results of previous reports. Bcl-6 mutation occurred mostly in the GCBsubtype and detection of t(14 ;18) seems helpful in the classification of DLBCL.
