用比较基因组杂交技术(CGH)检测肾癌染色体畸变

目的应用比较基因组杂交技术(CGH)分析原发性肾癌肿瘤组织中染色体异常变化,探讨肾癌细胞遗传物质的改变,揭示肾癌发生发展的内在本质及其与临床特征之间的关系。方法采用CGH技术对12例肾癌组织提取的全基因组DNA进行检测,以了解肾癌全基因组的变化。结果CGH技术检测的12例肾癌标本中均有染色体的畸变(扩增和/或缺失),常见的扩增区是1p、4p、5q、7p、9p、16p,常见的缺失区是3q、4q、6q、9q、14q、18q。结论原发性肾癌存在广泛的遗传物质不平衡现象,肾癌细胞染色体扩增和/或缺失可能是肾癌发生发展的基础。     

间变性大细胞淋巴瘤的阵列比较基因组杂交分析

目的 利用阵列比较基因组杂交(aCGH)技术探讨间变性大细胞淋巴瘤(ALCL)的分子遗传学异常.方法 采用免疫组织化学EnVision法及荧光原位杂交技术对25例ALCL进行间变性淋巴瘤激酶(ALK)蛋白及基因分子遗传学异常的检测;利用aCGH技术进行全基因组遗传学检测,并对检测结果与ALCL的ALK蛋白表达进行相关性分析.结果 25例ALCL中均有染色体片段的扩增/缺失,且扩增多于缺失.其中＞50％病例中存在染色体区域5p13.2、3q1.1、2q21.3、3p25.1、14q32.33、17q21.2的获得;30％ ～ 50％病例中存在染色体区域4q27、6p22.1、20p11.21、2q22.3、4q35.1、1p36.22、8p23.1、8p12、11q14.1、12q13.13、19p13.3的获得;36.0％ (9/25)及24.0％ (6/25)的ALCL病例中存在3q26.1及3q26.31染色体区域的缺失.染色体区域2q21.3、6p22.1及3p25.1的获得在ALK阳性与ALK阴性ALCL病例中差异有统计学意义(P＜0.05).结论 ALCL存在着较为复杂的分子遗传学变化,即遗传学不平衡性.其中,染色体片段的扩增多于缺失.位于2q21.3、6p22.1及3p25.1的遗传学不平衡在ALK阳性和ALK阴性ALCL之间存在显著差异,表明ALK阳性和阴性ALCL所涉及的遗传学异常不同,可能涉及不同的信号转导通路.     

恶性髓系血液病-7/7q-异常的分子细胞遗传学分析

目的 分析染色体-7／7q-在骨髓增生异常综合征(myelodysplastic syndrome，MDS)和急性髓细胞白血病(acute myeloblastic leukemia，AMI，)中的发生频率；探讨荧光原位杂交技术(fluorescence in situ hybridization，FISH)在检测和鉴定-7／7q-异常中的价值。方法 回顾性分析所有接受细胞遗传学分析(conventional cytogenetic analysis，CCA)的MDS／AML患者的核型特征，其中70份进行FISH分析。应用双色荧光直接标记的7号着丝粒探针(CEP7，光谱绿)和7q31基因序列探针(D7S486，光谱桔红)，15份正常样本作为对照。结果 -7／7q-在AML和MDS中出现频率分别为4．5l％(31／687例)和5．7l％(28／490例)，分别占异常核型病例的5．68％和l0．29％。7q-常见的缺失区域为7q21—22(10例)和7q31—35(10例)。FISH证实伴有克隆性-7／7q-异常，但在随机性-7／7q-异常或正常核型中未检出-7／7q-异常。在核型分析出现7q-异常的病例中，FISH检出7／11例可同时伴有-7克隆的出现，而且7q-异常的细胞数显著高于-7异常细胞数(42．5％vs8．4％，P=0．025)。1例核型为del(7)(q22)患者FISH证实为染色体易位；1例7q 患者FISH显示dup(7q)；1例复杂异常核型，FISH确定其累及7q。结论 FISH是鉴定或确定7q结构异常的强有力工具，能精确地评价-7／7q-。7q-异常通常与-7异常在同一个样本中共存，且7q-细胞数显著增高，推测-7克隆衍生于7q-的丢失。     

Y染色体AZF区域基因微缺失的细胞分子遗传学和性激素水平研究

目的 研究精索静脉曲张并发无精子症患者Y染色体的细胞分子遗传学和性激素水平的相关性，探索Y染色体AZF区域基因微缺失的来源机制和内分泌学机制。方法 采用多重聚合酶链反应技术对2例外周血染色体常规筛查核型异常、精索静脉曲张并发无精子症患者外周血有核细胞和睾丸活检精原细胞同时进行分子遗传学检测，PCR产物经DNA测序检测证实，并测定血清中性激素6项。结果 核型为45，X0／46，XY，del（Y）（q11．21）；45，X0／46，XY，del（Y）（q11．23）二位患者外周血有核细胞和睾丸活检精原细胞AZF区域15个标签位点分别只扩增出SY84和SY86；SY86，其它区域位点均未检测到。血清中性激素6项中睾酮（T）、人促卵泡激素（FSH）和人促黄体生成激素（hLH）明显低于正常人水平。结论 Y染色体AZF区域的单细胞水平缺失与外周血基因组缺失保持一致，AZF区域基因微缺失对性激素水平可能有一定的影响。     

微阵列比较基因组杂交技术在染色体异常细胞遗传学分析中的应用

目的分析染色体G显带核型异常患者基因拷贝数变异(CNVs)情况,探讨微阵列比较基因组杂交(array CGH)技术在染色体异常细胞遗传学分析中的作用。方法收集受试者外周血标本,array CGH技术分析染色体易位、标记染色体以及性染色体异常患者CNVs情况及其临床意义。结果 array CGH分析发现染色体核型为45,XY,t(18;21)(18p11;21p11),15ps+的易位患者染色体18p11.3存在缺失,17q21.31存在扩增,18号染色体与21号染色体为非平衡易位,未检测到染色体15ps+相关CNVs;核型为47,XX,15ps-,+mar患者存在Y染色体相关CNVs,其标记染色体可能来源于Y染色体;核型为45,X/46,XY的性染色体异常患者染色体15q11.2存在缺失、15q13.3和22q11.23存在扩增,未检测到性染色体数目异常相关CNVs。结论 array CGH技术在临床细胞遗传学分析中具有重要的价值,该技术应用于CNVs分析有利于筛查病理性CNVs,明确染色体易位类型,辅助了解标记染色体的来源,但可能不适用于嵌合体以及染色体随体异常的检测。     

髓母细胞瘤比较基因组杂交分析及ERBB-2异常表达的意义

目的研究髓母细胞瘤全基因组的遗传学异常,探讨癌基因的异常表达在髓母细胞瘤发病机制中的作用以及与预后的关系。方法应用比较基因组杂交（comparative genomic hybridization,CGH）技术检测14例髓母细胞瘤全基因组的遗传学改变;同时,在扩大系列的29例髓母细胞瘤中,应用荧光原位杂交（fluorescence in situ hybridization,FISH）和免疫组化染色分别检测ERBB-2在基因水平和蛋白水平的表达。结果（1）CGH结果显示,在所有14例髓母细胞瘤标本中,每一条染色体臂上都检测到了染色体的失衡（获得或丢失）,最常见的染色体异常为17q（85．7％）和7q（35．7％）的获得,以及8p（50％）、16q（28．6％）和17p（35．7％）的丢失;（2）FISH检测中,44．5％（13／29例）的肿瘤细胞有ERBB-2基因的异常表达;（3）免疫组化结果显示,37．9％（11／29例）的病例有抗体c-erbB-2的阳性表达;（4）在预后较差的16例患者中,56％（9／16例）的病例有ERBB-2的过度表达。结论CGH研究发现了髓母细胞瘤全基因组的染色体失衡。在染色体17q特异性位点上ERBB-2基因的异常改变很可能在髓母细胞瘤的发病机制中起着重要的作用,其过度表达与患者的预后密切相关。     

用比较基因组杂交鉴别T细胞NHL进展有关的遗传学改变

T细胞淋巴瘤是一组非何杰金淋巴瘤 ( NHL)的异质性疾病 ,具有高度变异。在细胞遗传学水平 ,与 1 4q1 1 ,1 4q32 ,6q2 3和 1 p36的重排有关。虽然细胞遗传学分析 ( CCT)可检出易位、严重 DNA丢失和扩增 ,但对隐匿的遗传不平衡和推定诊断及预后值仍无法检出。而新近发展起来的比较基因组杂交( CGH)则能鉴别基因组复制拷贝不平衡。CGH主要优势在于不需细胞培养获取中期细胞分裂就能进行基因组总体数量分析 ,避免微量细胞克隆检查。作者应用 CCT和 CGH检测了 2份 T细胞 NHL 期和 期复发样本 ,以鉴别其与肿瘤进展有关的遗传学改变。…     

29例伴del(20q)骨髓增生异常综合征的细胞遗传学和临床特征

目的 分析伴del(20q)的骨髓增生异常综合征(myelodysplastic syndrome，MDS)患者的细胞遗传学和临床特征。方法 对29例伴del(20q)MDS的细胞遗传学改变、临床表现、实验室检查特点及病程转归进行总结分析。结果 (1)29例del(20q)的MDS中，11例(37．9％)混合正常核型，难治性贫血(refractory anemia，RA)／伴环形铁粒幼细胞增多的难治性贫血(RA with ringed sideroblasts，RAS)组有9例，而原始细胞增多的RA(RA with excess blasts，RAEB)／转变中的RAEB(RAEB in transformation，RAEB-T)组2例；RA／RAS组中缺失以del(20q)(q11)多见(63．2%)，而RAEB／RAEB-T组中以del(20q)(q12)多见(70．0％)；RA／RAS组的附加核型改变和复杂核型改变发生率为26．3％、5．3％，均低于RAEB／RAEB-T组的50．0％和30．0％；(2)伴del(20q)的MDS多表现为两系或3系血细胞减少，几乎全部患者有红系和粒系病态造血，而58．6%的患者有巨核细胞病态造血，13例(44．8％)患者为两系病态造血，14例(48．3％)患者为3系病态造血，另2例为单纯红系病态造血；62．5％患者的有核红细胞糖原染色阳性和中性粒细胞碱性磷酸酶积分减低；81．8％患者有淋巴细胞的免疫学标记表达；(3)2例患者转化为急性非淋巴细胞性白血病(acute nonlymphocytic leukemia，ANLL)M2a型。结论 del(20q)可能是血液肿瘤中一种早期和初步的细胞遗传学异常，伴del(20q)的MDS以两系和3系血细胞减少及病态造血常见，可表达淋巴细胞标记，随病情进展正常核型减少而附加和复杂核型增加。     

联合应用多种细胞及分子细胞遗传学技术确诊额外标记染色体

目的应用比较基因组杂交技术（comparative genomic hybridization，CGH）、荧光原位杂交（fluorescence in situ hybridization，FISH）和传统细胞遗传学技术分析1例额外标记染色体（supernumerary marker chromosome，SMC），探讨这些技术的联合使用在识别新发生的标记染色体方面的临床应用。方法1例智力低下患儿，通过常规G显带技术分析其染色体核型。针对发现的SMC，通过CGH分析其起源，通过FISH技术证实。同时应用N带和C带技术分析SMC的随体组成和着丝粒组成。结合已有的文献报道，分析该SMC的表型效应。结果染色体G带分析显示患者为携带SMC的嵌合体，核型描述为mos．47，XX，＋may[31]／48，XX，＋2mar[29]。CGH分析显示患儿基因组中有15q11→q14片段重复，以15q探针与患者中期分裂相进行FISH检测证实SMC来源于15号染色体。应用检测缺失型Prader-wiUi综合征／Angelman综合征的UBE3A探针与患者中期分裂相检测显示SMC有两个UBE3A杂交信号，对照的PML位点没有信号。N带显示SMC携带双随体，c带分析SMC为双着丝粒。综合上述结果，患者核型为：mos．47，xx，＋der（15）（pter＋q14：：q14→pter）[31]／48，XX，＋2der（15）（pter→q14：：q14→pter）[29]．ish der（15）（WCPl5＋，UBE3A＋＋，PML-）。结论CGH对于检测出不平衡染色体结构重排具有提示作用，结合FISH和传统的细胞遗传学技术，为确定SMC的结构组成提供了可信的技术平台，为分析这类异常核型个体的表型、预后和复发风险提供了依据。     

无精子症患者Y染色体微缺失及细胞遗传学研究

目的探讨导致男性无精子症的遗传学原因。方法收集132例无精症患者和60例精液参数正常生育男性的外周血,通过多重PCR技术进行Y染色体微缺失的分子遗传学检测,同时采用外周血淋巴细胞培养G显带方法进行细胞遗传学分析。结果132例无精症患者中,11例Y染色体微缺失,微缺失的发生率为8.33％（11／132）;细胞遗传学研究检测到21例染色体核型异常,异常核型频率为15.91％（21／132）。与精液正常组比较均有统计学差异（P〈0.05）。结论无精子症患者染色体核型异常及Y染色体微缺失的发生率较高,Y染色体微缺失及细胞遗传学检测可为不育患者提供治疗前的遗传咨询,避免遗传缺陷垂直传递给后代。     

Comparison of chromosomal aberrations between primary tumors and their synchronous lymph-node metastases in intestinal-type gastric carcinoma

Lymph-node metastasis is a main factor causing poor prognosis of patients with gastric cancer (GC). In order to determine the genes involved in lymph-node metastasis, we compared primary tumors with their synchronous lymph-node metastases for DNA sequence copy number aberrations (DSCNAs) in 20 patients diagnosed as having intestinal-type GC using comparative genomic hybridization (CGH). The results showed that some DSCNAs (gains at 8q, 13q, 5p, 7 and X, and losses at 1p, 17p, 19, 21q and 22q) were frequently found in both primary tumors and their metastases. However, metastases often contained DSCNAs that were not found in corresponding primary tumors, and gain at 20q12–13 and losses at 21qcen-21, 4q and 14q22-ter were significantly more frequently observed in metastatic lesions than in their primary tumors (10:2, 9:0, 6:0, and 7:0 between metastases and corresponding primary tumors, respectively). Our data indicate that gain at 20q12–13 and losses at 21qcen-21, 4q, and 14q22-ter are involved in lymph-node metastases, and that these chromosomal regions may contain the genes related to lymph-node metastases in intestinal-type GC.     

Frequent gain of copy number on the long arm of chromosome 3 in human cervical adenocarcinoma.

We analyzed genomic aberrations in 20 cervical adenocarcinomas by comparative genomic hybridization (CGH). Most tissue samples (85%) showed DNA copy number changes; gains were more common than losses. The most consistent region of chromosomal gain was mapped to chromosome arm 3q, found in 70% of the cases, with a minimal common region of 3q28-ter. Other recurrent amplifications of genetic material were detected on 17q (45%), 1p (30%), 1q (25%), and 11q (20%). High-level copy number increases were found in chromosomal regions 3q27-ter and 9pter-13. DNA losses were seldom observed, occurring primarily in underrepresented regions of chromosome arms 4q, 13q, and 18q. The presence of high-risk human papilloma virus genomes in the cervical adenocarcinoma samples was detected in 90% of the cases. However, there was no correlation between human papilloma virus type and the pattern of genomic changes. This study is the first report of CGH analysis in human cervical adenocarcinoma. Among the major genomic alterations, our results demonstrate the importance of DNA copy increases of chromosome arm 3q in the development of cervical adenocarcinoma and identify other amplified chromosomal regions that are also associated with cervical carcinogenesis.     

Chromosomal imbalances revealed in primary renal cell carcinomas by comparative genomic hybridization

Renal cell carcinoma (RCC) accounts for approximately 3% of all new cancer cases. Although the classification of RCC is based mainly on histology, this method is not always accurate. We applied comparative genomic hybridization (CGH) to determine genomic alterations in 46 cases of different RCC histological subtypes [10 cases of clear cell RCC (CCRCC), 13 cases of papillary RCC (PRCC), 12 cases of chromophobe RCC (CRCC), 9 cases of Xp11.2 translocation RCC (Xp11.2RCC), 2 cases of undifferentiated RCC (unRCC)], and investigated the relationships between clinical parameters and genomic aberrations. Changes involving one or more regions of the genome were seen in all RCC patients; DNA sequence gains were most frequently (>30%) seen in chromosomes 7q, 16p, and 20q; losses from 1p, 3p, 13q, 14q, and 8p. We conclude CGH is a useful complementary method for differential diagnosis of RCC. Loss of 3p21-25, 15q, and gain of 16p11-13 are relatively particular to CCRCC vs. other types of RCC. Gain of 7p13-22, 8q21-24, and loss of 18q12-ter, 14q13-24, and Xp11-q13/Y are more apparent in PRCC, and gain of 8q21-24 is characteristic of type 2 PRCC vs. type 1 PRCC. Loss of 2q12-32, 10p12-15, and 11p11-15, 13p are characteristic of CRCC, and gain of 3p and loss of 11p11-15 and 13p are significant differentiators between common CRCC and CRCC accompanied by sarcomatous change groups. Gain of Xp11-12 is characteristic of the Xp11.2RCC group. Based on Multivariate Cox regression analysis, aberration in 5 chromosome regions were poor prognostic markers of RCC, and include the gain of chromosome 12p12-ter (P = 0.034, RR = 3.502, 95% CI 1.097-11.182), 12q14-ter (P = 0.002, RR = 5.115, 95% CI 1.847-14.170), 16q21-24 (P = 0.044, RR = 2.629, 95% CI 1.027-6.731), 17p12-ter (P = 0.017, RR = 3.643, 95% CI 1.262-10.512) and the loss of 18q12-23 (P = 0.049, RR = 2.911, 95% CI 1.006-8.425), which may provide clues of new genes involved in RCC tumorigenesis.     

Chromosomal aberrations in esophageal squamous cell carcinoma among Chinese: gain of 12p predicts poor prognosis after surgery

Sixty primary esophageal squamous cell carcinomas (ESCCs) were evaluated for cytogenetic changes by comparative genomic hybridization (CGH). Recurrent chromosomal aberrations were correlated with stage and clinical outcome after esophagectomy to identify cytogenetic changes that are of prognostic significance. Chromosomal aberrations were found in 52 (86.7%) cases. The most frequently detected chromosomal gains involved 3q (67.3%), 8q (57.7%), 5p (51.9%), 7q (28.8%), 15q (28.8%), 20p (21.2%), 20q (28.8%), 1q (26.9%), 7p (26.9%), 2p (23.1%), and 12p (23.1%). Chromosome 12p was most frequently involved in high-level amplification. Six of the 12 cases with gain in 12p showed high-level amplification and the minimum overlapping region localized to 12pter-p13. The most frequently detected chromosomal loss involved 3p (46.2%), 4q (26.9%), 4p (23.1%), 3q (19.2%), 9p (17.3%), 19p (17.3%), and whole 13 (15.4%). No significant correlation was found between the recurrent chromosomal aberrations and pathological stage of ESCC. Univariate analysis demonstrated that late pathological stage (III and IV), gain in 12p, and loss in 3p are associated with poor relapse-free survival. Multivariate analysis confirmed gain in 12p as independent prognosticator for relapse-free survival after esophagectomy besides pathological stage. We conclude that chromosomal aberrations are common in ESCC. Gain in 12p is indicative of poor prognosis after esophagectomy, and combined modality therapy would be indicated in these patients.     

Genetic imbalances in primary gastric diffuse large B-cell lymphomas: comparison of comparative genomic hybridization, microsatellite, and cytogenetic analysis.

Extranodal malignant non-Hodgkin's lymphomas account for about 40% of lymphoid neoplasms, but few data are available concerning the genetic background of primary gastric diffuse large B-cell lymphoma (DLBCL). A study was performed of 27 primary gastric DLBCLs and 5 gastric DLBCLs with a concomitant low grade component of mucosa-associated lymphoid tissue-type lymphoma using comparative genomic hybridization (CGH), microsatellite studies, classic cytogenetics, and fluorescence in situ hybridization (FISH) to search for specific genetic aberrations. The most frequent aberrations were losses of material on chromosome 6q and gains of parts of chromosome 3. In three cases, a total of six high level DNA amplifications were detected, with five of them involving chromosomal regions not having been reported before in gastric DLBCL. A high overall concordance of 91.4% between microsatellite analysis and CGH was observed using DNA extracted from the same tissue block. The concordance achieved using DNA from different tissue blocks of the same patient was 85%. Microsatellite studies, CGH, FISH, and classic cytogenetics represent complementary techniques that facilitate a comprehensive view of genetic alterations in malignancies such as primary gastric DLBCL.     

Chromosome DNA imbalances in human astrocytic tumors: A comparative genomic hybridization study of 63 Chinese patients

Astrocytic tumors are the most frequent primary brain neoplasms. They are clinically characterized by wide variations in histology. Analysis of chromosome DNA imbalance may help to advance diagnosis, grading, and classification, and to determine appropriate therapeutic approaches for tumors of astrocytic lineages. Comparative genomic hybridization (CGH) provides comprehensive information about chromosome DNA aberrations, and is an important technique for evaluating the differences at genomic levels among the same or different grade tumors. In this study, 63 astrocytic tumors of Chinese patients were screened by CGH, and the relationship between their chromosome DNA imbalances and the histopathological classification, grading, and clinical features was analyzed. Most tumors showed genomic copy aberrations detected by CGH. The most frequent abnormalities were regional gains in chromosome 1q and 7p; regional losses in chromosome 1p, 2q, 4q, 6p, 10q, 12q, 15q, 19q, and 22q were also frequently observed. The gain of 1q and the loss of 15q were relevant to the histological types and grades of WHO classification. The losses of 4q and 10q correlated with age in the group of anaplastic astrocytoma, which was unreported in the literature. This study confirmed that chromosomal aberrations, such as +1q, −4q, −10q, +7p, and −15q possibly contributed to the pathogenesis of these tumors. Our data was the first report on the chromosomal aberrations of astrocytic tumors of Chinese patients.     

Amplification of 2p13-16 in a case of extranodal large cell diffuse B-cell lymphoma

Comparative genomic hybridisation (CGH) allows to detect genetic abnormalities associated with poor prognosis in subset of patients with diffuse large B-cell lymphoma (DLBCL). Amplification of 2p13-16 represents an adverse genetic sign especially in extranodal DLBCL. In the present case, 2p13-16 amplification was revealed by CGH in extranodal DLBCL. It was localized in the mesentery and remained resistant to the chemotherapy (CHOP). A patient, 72-year-old female, died 10 weeks after the diagnosis had been made. Rapid lethal course of the disease confirms poor outlook for patients with 2p13-16 and supports a role of CGH as a sensitive method in prognosis for patients with DLBCL.     

A copy number gain of the 6p arm is linked with advanced hepatocellular carcinoma: an array‐based comparative genomic hybridization study

In accordance with cancer progression, genomic aberrations accumulate in cancer cells in a stepwise fashion. However, whether there are genomic changes linked with tumour progression remains unclarified. The purpose of this study is to elucidate the relationship between genomic alterations and clinical stages in hepatocellular carcinoma (HCC). A technology of array‐based CGH using DNA chips spotted with 1440 BAC clones was applied to 42 surgically removed HCCs to examine the DNA copy number aberrations. A frequent copy number gain was detected on chromosomal regions 1q, 8q and Xq. In particular, gains of 1q42.12, 1q43 and 8q24.3 were detected in more than 65% of tumours. A frequent copy number loss was detected on chromosomal regions 1p, 4q, 6q, 8p and 17p. Losses of 8p21 and 17p13 were detected in more than 55% of HCCs. However, the DNA copy number gains of clones on 6p and 8q24.12 were more frequent in stage III/IV tumours than in stage I/II tumours (p < 0.001). In particular, the gain of the whole 6p was virtually limited to advanced‐staged HCCs. The gain of the whole 6p is suggested to be a genomic marker for the late stages in HCCs. These observations therefore support the concept of genomic staging in HCC. Copyright © 2008 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.     

Cytogenetic features of de novo CD5-positive diffuse large B-cell lymphoma: chromosome aberrations affecting 8p21 and 11q13 constitute major subgroups with different overall survival

De novo CD5-positive diffuse large B-cell lymphoma (CD5(+)DLBCL) is regarded as a different clinicopathological entity from CD5-negative DLBCL (CD5(-)DLBCL) and mantle cell lymphoma (MCL). Because only a few published cytogenetic studies of de novo CD5(+)DLBCL are available, we investigated chromosomal changes in 23 Japanese patients who had de novo CD5(+)DLBCL. A characteristic of cytogenetic abnormalities in de novo CD5(+)DLBCL was a high incidence of chromosomal aberrations affecting 8p21 and 11q13. Major chromosomal breakpoints were concentrated at 8p21, 11q13, and 3q27. Patients with 8p21 aberrations showed aggressive clinical features, including advanced stage of disease, elevated serum LDH level, poor performance status, and an inferior survival curve compared with patients who had 11q13 changes (P = .043). Chromosomal abnormalities of both 8p21 and 11q13 were not observed in the same patient, and each abnormality showed different chromosomal gains and losses. These results indicate that de novo CD5(+)DLBCL may occur in previously unidentified subgroups that differ in their chromosomal abnormalities. The conflicting results of previous studies on prognosis may thus be explained in part by the differences in chromosomal changes.