智亚芹, 易树华, 安刚, 于珍, 徐燕, 李增军, 邹德慧, 邱录贵, 张翼鷟, 王亚非. 伴骨髓侵犯的弥漫大B细胞淋巴瘤的细胞遗传学特点分析[J]. 中国肿瘤临床, 2012, 39(10): 666-669. DOI: 10.3969/j.issn.1000-8179.2012.10.011
引用本文: 智亚芹, 易树华, 安刚, 于珍, 徐燕, 李增军, 邹德慧, 邱录贵, 张翼鷟, 王亚非. 伴骨髓侵犯的弥漫大B细胞淋巴瘤的细胞遗传学特点分析[J]. 中国肿瘤临床, 2012, 39(10): 666-669. DOI: 10.3969/j.issn.1000-8179.2012.10.011
Ya-qin ZHI, Shu-hua YI, Gang AN, Zhen YU, Yan XU, Zeng-jun LI, De-hui ZOU, Lu-gui QIU, Yi-zhuo ZHANG, Ya-fei WANG. Cytogenetic and Clinical Study on 55 Cases of DLBCL with Bone Marrow Involvement[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2012, 39(10): 666-669. DOI: 10.3969/j.issn.1000-8179.2012.10.011
Citation: Ya-qin ZHI, Shu-hua YI, Gang AN, Zhen YU, Yan XU, Zeng-jun LI, De-hui ZOU, Lu-gui QIU, Yi-zhuo ZHANG, Ya-fei WANG. Cytogenetic and Clinical Study on 55 Cases of DLBCL with Bone Marrow Involvement[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2012, 39(10): 666-669. DOI: 10.3969/j.issn.1000-8179.2012.10.011

伴骨髓侵犯的弥漫大B细胞淋巴瘤的细胞遗传学特点分析

Cytogenetic and Clinical Study on 55 Cases of DLBCL with Bone Marrow Involvement

  • 摘要:
      目的  探讨伴骨髓侵犯(bone marrow involvement, BMI)弥漫大B细胞淋巴瘤(diffuse large B-celllymphoma, DLBCL)患者的细胞遗传学特征。
      方法  采用常规细胞遗传学(conventional cytogenetic, CC)分析55例伴BMI的DLBCL患者染色体核型; 采用荧光原位杂交技术(fluorescence in situ hybridization, FISH)检测其中18例患者IgH、Rb-1、D13S25、p53、ATM、Bcl-2、Bcl-6、c-MYC基因位点; 分析其细胞遗传学特征。
      结果  55例患者中CC检测34例(61.8%)具有染色体核型异常(CA), 21例(38.2%)为复杂畸变, 14例(25.5%)高度复杂畸变。FISH检测示8例(44.4%)伴Bcl-2扩增, 2例(11.1%)伴Bcl-2易位, 7例(38.9%)伴IGH易位, 5例(27.8%)伴Bcl-6扩增, 5例(27.8%)伴p53缺失, 3例(16.7%)伴D13S25缺失, 2例(11.1%)伴Rb-1缺失及4例(22.2%)伴c-MYC扩增。3例CC正常患者经FISH检测出异常。随着骨髓侵犯程度的增加, 遗传学异常检出率增加。
      结论  伴BMI的DLBCL患者CA检出率高, 各条染色体均有累及, 且复杂畸变核型异常多见; 检测细胞遗传学异常, FISH较CC灵敏性及特异性高; 骨髓侵犯程度较轻患者的细胞遗传学异常易于漏诊。

     

    Abstract:
      Objectives  To explore the cytogenetic characteristics of diffuse large B cell lymphoma(DLBCL) with bone marrow involvement(BMI).
      Methods  The caryotype of 55 DLBCL patients with BMI were analysed using conventional cytogenetic(CC), and the gene of IgH.Rb1, D13S25, P53, ATM, Bcl-2 / IgH, Bcl-6 and c-MYC of 18 patients were detected by fluorescence in situ hybridization (FISH).The prognostic value of cytogenetic and clinical characteristics were analysed.
      Results  Chromosome aberrations(CA) were detected in 34 of 55 petionts(61.8%) by CC, including complex aberrations in 21 cases and highly complex aberrations in 15 cases.Eighteen cases were detected with FISH and 8 cases were positive for the Bcl-2 amplication by FISH.2 cases for the t(14:18) aberration, 7 cases for IgH, 5 for Bcl-6 amplication.5 for P53 deletion, 3 for D13S25 deletion.2 for Rb-1 deletion and 4 cases for c-MYC amplication.Three cases with normal caryotypes by CC had abnormal cytogenetics by FISH.The statistical analysis showed that the sensibility and specificity of FISH is obviously superior to CC(P = 0.023).The clinical characteristics of age < 60, serum albuminal < 35 g/L, more than two extranodal site involvement, moderate and severe BMl, hepotomegaly and / or splenomegaly were more prevalent in patients with abnormal cytogenetics than in those with normal ones.Univariate analysis showed that hepotomegaly, splenomegaly, serum albuminal < 35 g/L, more than two extranodal site involvement, moderate and severe BMI, abnormal cytogenetics and CA of chromosomes 1.2, 3, 6, 13, 17 and 18 were associated with shorter OS.Multiple analysis showed that splenomegaly, moderate and severe BMI and CA of chromosome 17 were independent prognostic factors of DLBCL with BMI.
      Conclusion  The detection rate of DLBL with BMI was high and every chromosome can be involved.The sensibility and specificity of FISH is obviously superior to CC.Splenomegaly, moderate and severe BMl and CA of chromosome 17 were independent prognostic factors of DLBCL with BMI.

     

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