伴骨髓侵犯弥漫大B细胞淋巴瘤的细胞遗传学异常及其与预后的关系  

Characteristics and Prognostic Significance of Cytogenetic Abnormalities in Diffuse Large B-Cell Lymphoma Patients with Bone Marrow Involvement

作　　者：刘薇 吕瑞 黄文阳 李承文 刘宏 李健 邹德慧 邱录贵 易树华 

机构地区：[1]中国医学科学院血液病医院淋巴瘤诊疗中心,天津300020 [2]中国医学科学院血液病医院病理检测中心染色体组,天津300020

出　　处：《中国实验血液学杂志》2017年第3期761-765,共5页Journal of Experimental Hematology

基　　金：国家自然科学基金(81200395;81370632);国家科技支撑计划项目(2014BAI09B12)

摘　　要：目的:探讨伴有骨髓侵犯的弥慢大B细胞淋巴瘤(DLBCL)患者的常见细胞遗传学异常,以及这些遗传学异常对患者预后的影响。方法:回顾性分析本院具有完整细胞遗传学资料的47例伴骨髓侵犯DLBCL患者的骨髓染色体核型结果,分析其特征以及与预后的关系。结果:47例患者中25例检测出核型异常(53%),以复杂核型异常(≥3种异常)为主(19例,占40%)。异常核型最常累及的染色体为1和18号染色体(均为26%),其次分别为3号染色体(23%),6号染色体(19%),7、8和14号染色体(3者均为13%)。染色体异常的类型方面,最常见的数量异常为+3(13%),其次为+5、+7、+12、+18和-21(均6%),最常见的结构异常为1q+(17%),其次为1p+、2p21-p23异常、6q-、8q+、14q+、18p+和18q+(均6%)。预后影响分析发现IPI≥3分(P=0.03)和染色体核型异常(P=0.005)对无进展生存(PFS)有显著不利影响,IPI≥3分(P=0.024)、LDH高于3倍正常上限(P=0.027)和染色体核型异常(P=0.001)对总生存(OS)有显著不利影响。多因素分析显示,仅染色体核型异常是PFS(P=0.037,HR 2.323)和OS(P=0.015,HR 2.833)的独立不良预后因素。进一步分析核型异常的类型对预后的影响结果发现,1q+,8q+,+12,12q+,18p+和2p21-23异常对PFS有显著不良影响,1q+,+3,+5,+7,8q+,+12,12q+和2p21-23异常对OS有显著不利影响。综合临床特征及上述核型异常类型进行多因素分析结果表明,8q+(P=0.022,HR 2.701)和IPI≥3分(P=0.043,HR 2.949)对PFS有显著不利影响,1q+(P=0.032,HR 2.973)对OS有显著不利影响。结论:骨髓受累的DLBCL患者中,合并细胞遗传学异常的患者生存期更短,是其独立的不良预后因素,其中8q+和1q+分别是PFS和OS的独立不良预后因素。Objective： To investigate the cytogenetic abnormalitis in patients with diffuse large B-cell lymphoma （DLBCL） patients with bone marrow involvement and their influence on prognosis. Methods： Conventional karyotyping was performed on bone marrow specimens in 47 DLBCL patients with histologically confirmed bone marrow involvement （BMI）. The karyotyping results of bone marrow, the characteristics and clinical effect of chromosomal abnormalities were analysed. Results： In 47 DLBCL cases with BMI, the chromosomal abnormalities were detected in 25 （53%） ca- ses. Among them, complex karyotype was more frequent, being noted in 19（40% ） patients. The most frequently in- volved chromosomes were chromosome 1 and 18（both 26% ）, others were chromosome 3（23% ）, 6（ 19% ）, 7, 8 and 14（ 13% ）. Among all karyotype changes, the most common numerical aberrations, in decreasing order of incidence, were trisomy 3 （ 13 % ）, trisomy 5, trisomy 7, trisomy 12, wisomy 18 and loss of 21 （6 %, each）, and the most predomi- nant structural aberrations, in decreasing order of incidence, were lq ＋ （ 17% ）, lp ＋, 6q-, 8q ＋, 14q ＋, 18p ＋, 18q ＋and aberrations involving band 2p21-p23 （6% ,each）. The prognostic impact analysis of both clinical features and cyto- genetic aberrations revealed that IPI I〉 3 （ P = 0.03 ） or the presence of chromosomal abnormalities （ P = 0. 005 ） were sig- nificantly related with poor progression free survival （ PFS）, and IPI t〉 3 （ P = 0. 024 ）, lactate dehydrogenase （LDH） I〉 three times of the upper limit of normal （ P = 0. 027 ） and the presence of chromosomal abnormalities （ P = 0. 001 ） pre- dominantly related with poor overall survival（OS）. In multivariate analysis, the presence of chromosomal abnormalities was the only independently adverse factor for PFS （ P = 0. 037, HR 2. 323 ） and OS （ P = 0.015, HR 2. 833 ）. The analy- sis of prognostic effects of specific chromosomal aberrations showed that patien

关 键 词：弥漫大B细胞淋巴瘤 骨髓侵犯 细胞遗传学异常 

分 类 号：R733.1[医药卫生—肿瘤]