癌症患者外周血染色体畸变的研究

应用TC199培养基培养外周血淋巴细胞,获取中期分裂的染色体,观察和分析了32例癌症患者及20例正常人外周血淋巴细胞染色体畸变的情况。结果表明,癌患者染色体畸变率及代表畸变率的三个参数:细胞断裂率、染色体断裂率、畸变细胞率均明显高于对照组,t检验有高度显著性差异。染色体畸变的现象说明,在体内有恶性肿瘤存在,血液淋巴细胞染色体是不稳定的,同时也表明,染色体不稳定的增高,可能导致个体对肿瘤易感性的增加。     

电子束过量照射对肿瘤患者淋巴细胞稳定性染色体畸变研究

本文用稳定性染色体分析方法,对受电子束事故照射的14例恶性肿瘤患者和4例非肿瘤患者进行了外周血淋巴细胞染色体畸变分析。结果显示,在常规放疗剂量的几倍～十几倍剂量情况下,畸变细胞率、染色体畸变率、四倍体细胞都明显高于正常对照组。事故组还出现了多畸变细胞,微小体,额外染色体大断片、额外小染色体和异常染色体（巨A和巨D）细胞,其中前2者,肿瘤组明显高于非肿瘤组;后3者仅在肿瘤组中见到。     

染色体不稳定性与乳腺癌发病的关系

目的通过对乳腺癌患者外周血淋巴细胞染色体不稳定性的研究,来探讨乳腺癌患者外周血淋巴细胞中染色体畸变率（Chromosom alaberration,CAR）、染色体脆性部位（frahglg site）、姐妹染色单体交换（sister chromati dexchanges,SCE）、微核发生率（micronuclei,MN）及核仁组织形成区（Nucieolus organizer regioil,NOR）的相关性。方法对84例乳腺癌患者和110例正常人进行外周血染色体培养,常规收获细胞、制片,观察正常人和乳腺癌患者的染色体畸变率、染色体脆性部位、姐妹染色单体交换率、微核发生率、核仁组织形成区,并比较结果。结果①84例乳腺癌患者染色体结构畸变出现较多的的是i、3、5、6、10、11、17。②CAR、SCE频率、MN、AgNOR分别为11.07％、12.76±1.73、2．42±0．68‰、42.74％。③乳腺癌CAR、fra、SCE频率、MN、AgNOR各指标间呈正相关。结论乳腺癌患者外周血淋巴细胞染色体存在着数目及结构畸变,染色体畸变是导致乳腺癌发生的重要原因。肿瘤患者淋巴细胞染色体不稳定性的发生是其必然的表现,通过染色体不稳定性检测有助于发现高危患者。     

癌症病人末梢血淋巴细胞中自发性染色体畸变

最近,在细胞遗传学研究中发现一些类型的肿瘤病人有恒定和特异的染色体畸变。这提示在恶性病变开始时染色体改变的基础性作用。有报道大约98％的人和动物肿瘤有染色体结构和/或数目畸变,如染色体畸变率高,也具有预测价值。为了证实     

染色体作为癌患者诊断和判断预后指标的研究

应用ＴＣ１９９培养基培养外周血淋巴细胞，获取中期分裂的染色体，观察和分析了７６例癌患者和４０例正常人外周血染色体畸变的情况，对４４例患者进行了化疗前后染色体观测。结果表明，癌患者畸变细胞数、染色体畸变率及代表畸变率的三个参数：畸变细胞率、细胞断裂率、染色体断裂率均明显高于对照组，随着治疗后病情的变化，染色体的畸变与临床病情程度有明显的平行关系。作者认为，测定外周血淋巴细胞染色体情况，可作为癌患者诊断和判断预后的指标。     

209例先天异常儿的细胞遗传学分析

目的 对临床怀疑有染色体病或需要排除染色体病的患儿进行细胞遗传学检查，并对结果进行分析。方法 外周血染色体核型分析。结果 检查总人数209例，发现染色体畸变72例。占34．4％，其中常染色体数目异常55例。常染色体结构异常8例；性染色体数目异常7例，性染色体结构异常1例；性染色体与常染色体相互易位一例。结论 染色体数目及结构畸变是导致小儿先天异常的重要原因。应重视此类患儿的染色体检查。     

小儿先天异常250例的细胞遗传学分析

目的 :对临床疑为染色体疾病或需排除染色体畸变的患儿进行细胞遗传学检查 ,并对结果进行分析。方法 :外周血染色体核型分析。结果 :染色体检查共 2 5 0例 ,发现畸变共 5 0例 ,占 2 0 .8%。其中常染色体数目异常 38例 ,结构异常 7例 ;性染色体数目异常 4例 ,结构异常 1例 ;染色体核型与社会性别不符 2例。结论 :染色体畸变及染色体病是来儿科就诊的遗传性疾病患儿的一部分 ,需重视临床染色体检查及正确判断结果     

子宫内膜癌染色体不稳定性初步研究

目的：探讨子宫内膜癌染色体不稳定性。方法：取外周血淋巴细胞体外常规培养，ＧＴＧ显带分析染色体畸变，Ｂｒｄｕ法分化染色分析ＳＣＥ改变。结论；子宫内膜癌病人外周血淋巴细胞染色体畸变率及姊妹染色单体交换率增高，提示其染色体不稳定性增高。     

平阳霉素诱发喉癌下咽癌患者外周血淋巴细胞染色体畸变的研究

喉癌下咽癌是我国常见的恶性肿瘤之一，至今病因不详。为进一步探讨喉癌下咽癌患者染色体不稳定性与肿瘤易感性的关系，我们对１５９例患者进行平阳霉素诱发外周血淋巴细胞染色体致畸的观察，并同时选择了正常人群作为对照。结果显示：细胞畸变率，染色体畸变率，喉癌下咽癌组均明显高于正常对照组。表明喉癌下咽癌患者对诱变剂的敏感性明显高于正常人群，本研究说明利用平阳霉素作诱变剂的方法，能使体外培养淋巴细胞畸变率及染色体畸变率表达充分。且方法简便可靠对研究头颈部癌肿的发病机制和监测及预防头颈部癌肿的发生具有重要意义。     

体细胞突变与生殖异常的临床研究

目的对单个细胞染色体畸变在临床引起生殖异常效应的相关性研究;方法对生殖异常的患者外周血染色体常规制片G显带分析,并加大外周血淋巴细胞染色体核型计数;结果发现4例体细胞突变均有临床效应;结论临床中散在的单个细胞染色体畸变可能发生在生殖细胞中,应引起遗传医师的重视。     

Androgen production by epithelial ovarian tumours in post-menopausal women

Peripheral serum concentrations of androstenedione (A) and testosterone (T) were measured in 31 post-menopausal women with epithelial ovarian tumours (12 cancer, 5 borderline malignant and 14 benign tumours), and in 20 post-menopausal women who were free from ovarian neoplasms. The levels of these androgens were also measured in ovarian venous blood in 17 women with ovarian tumours. No significant differences were found between the mean serum androgen levels in patients with malignant, borderline malignant or benign ovarian tumours or the control group. The measured levels of A and T in peripheral and ovarian venous blood were highest in women with mucinous ovarian tumours. Histopathological examinations of the ovarian tumours showed hyperplasia or luteinization in ovarian tumour stroma in 5 out of 17 cases (3 mucinous tumours, 1 endometrioid adenocarcinoma and 1 serous adenocarcinoma). The results indicate that of all epithelial tumours mucinous ovarian tumours most often demonstrate hormonal activity and that malignancy has no effect on hormonal activity.     

DNA-cytophotometry and immunocytochemistry in ovarian tumours of borderline malignancy and related peritoneal lesions

Summary A total of 34 surgical specimens, obtained from 13 patients with ovarian tumours of borderline malignancy (OTBM), were investigated by conventional histology, immunocytochemistry and DNA cytophotometry. The lesions were obtained by primary ovarian surgery or second-look procedures and altogether comprised 19 (single and bilateral) OTBM, 8 cases of endosalpingiosis, 4 in situ and 2 invasive peritoneal implants and 1 overt adenocarcinoma. The morphological findings were related to follow-up data, which showed neoplasms with clinically malignant behaviour in 2 patients. The histology of the extra-ovarian manifestations was not associated with their immunocytochemical properties or with their DNA content. There were no correlations between the evolution of disease and microscopical features but the clinical course appeared to be linked to the DNA content of the extra-ovarian lesions, which was of greater prognostic importance than DNA ploidy of the ovarian tumours. Recurrence-free survival was noted in all 5 patients with diploid or euploid extra-ovarian proliferations, while the 2 clinically malignant cases fell into the group of 3 patients with noneuploid or aneuploid specimens. DNA estimations may be a methodology which increases the prognostic value of second-look procedures in OTBM patients.Supported by grants from the Hamburger Krebsgesellschaft and the Hamburger Gesellschaft zur Förderung der Krebsbekämpfung     

Application of fluorescence in situ hybridization in hematological disorders.

In the present study, chromosome changes in bone marrow (BM) or peripheral blood (PB) cells from 13 patients with malignant hematologic disorders were analyzed by classical cytogenetic techniques (G-banding) and fluorescence in situ hybridization (FISH) procedures using centromere specific probes for chromosomes 1, 6, 7, 8, 9, 12, 18, 13/21, and X, and a DNA probe specific for the long arm of chromosome Y. The cytogenetic data obtained with G-banding were in accord with those obtained by FISH to metaphase chromosomes. Most significantly, FISH to interphase nuclei offered reliable results and in some cases provided important information concerning crucial chromosome anomalies which were not or could not be completely detected by analyzing metaphase chromosomes. Our results indicate that FISH could be clinically valuable in five major areas: 1) marker chromosome identification; 2) identification of trisomy consistent with certain specific hematological neoplasms; 3) clonal evaluation post observation of a single cell with trisomy; 4) clonal evaluation post-sex-mismatched bone marrow transplantation (BMT); and 5) residual disease detection following clinical remission.     

卵巢癌患者调节性T细胞比率和肿瘤标志物CA125、CA19-9测定及临床意义

目的 探讨卵巢癌患者、卵巢良性疾病及健康成人女性调节性T细胞（Tregs）和肿瘤标志物CA125、CA19-9水平的差异,并将其与临床病理因素及预后进行相关分析。 方法 选择2016年10月~2017年10月承德医学院附属医院妇科收治的经病理确诊的卵巢癌患者43例,设为恶性组,另选择同期医院收治的卵巢良性疾病患者55例作为良性组,健康体检妇女50例作为对照组。比较3组患者Tregs和肿瘤标志物CA125、CA19 9在卵巢癌患者中的表达水平,分析其与临床病理因素及预后的关系。 结果 恶性组和良性组Tregs比例、CA125和CA19-9水平均高于对照组,恶性组Tregs比例、CA125和CA19-9水平高于良性组（P<0.05）。CA125、CA19-9、Tregs水平与患者的年龄差异无显著性（P>0.05）;CA125水平与卵巢癌患者的淋巴结是否转移、肿瘤分期和组织学类型均有关;Tregs表达水平与卵巢癌患者的淋巴结是否转移和肿瘤分期均相关,CA19-9水平只与肿瘤分期相关（P<0.05）。随访12个月后,Tregs-low组中位生存时间高于Tregs-high组（P<0.05）。卵巢癌中Tregs数与CA125存在显著正相关性（P<0.05）,而与CA19-9不具有相关性（P>0.05）。 结论 Tregs、CA125和CA19-9均可有望成为卵巢癌临床诊断、治疗和预后的指标。     

Changing pattern of AIDS: a bone marrow study

We compared bone marrow findings in 2 groups of patients with AIDS during 2 different periods: group 1, n = 20; male/female ratio, 19/1; and group 2, n = 120; male/female ratio, 6/1. Bone marrow iron stores were decreased significantly in group 2 (P < .01), and the incidence of AIDS-related lymphomas was higher, with frequent bone marrow involvement. Two group 1 patients had Kaposi sarcoma, and a 21-month-old girl with transfusion-transmitted AIDS had Burkitt-like lymphoma. In group 2, 44 patients had a history of malignant neoplasms, including Kaposi sarcoma (10 cases), hematologic neoplasms (33 cases), and metastatic leiomyosarcoma (1 case). Of the 120 patients, 15 (12.5%) had bone marrow involvement by malignant neoplasms. The majority of the non-Hodgkin lymphomas were high-grade lymphomas. Patients with AIDS-related malignant neoplasms had higher CD4+ cell counts and viral loads than patients without malignant neoplasms (P < .01, P < .05, respectively). The finding of decreased iron stores in patients with AIDS might aid clinical management of their anemia. The increased incidence of malignant neoplasms, especially lymphomas, in recent years might be related to prolonged survival but with incomplete reconstitution of immune function after antiretroviral therapy.     

Chromosome instability in lymphocytes from two patients affected by three sequential primary cancers: the role of fragile sites

The chromosomal aberration rate and the expression of fragile sites induced by aphidicolin were evaluated in metaphase chromosomes obtained from peripheral blood lymphocytes of two untreated patients with multiple primary cancers. Spontaneous aberrations of chromosome number and structure and chromosome fragility were compared with controls with the use of the same methods. Chromosomal aberration rates and expression frequencies of fragile sites were significantly higher in the patients than in normal control subjects. In the patients, all but one structural chromosome aberration involved at least one fragile site. Our results suggest that fragile sites may be unstable regions of the human genome, which might play an important role in the genetic instability associated with cancer predisposition.     

Uterine tumors with mixed epithelial and mesenchymal elements

The clinical and pathologic features and the differential diagnosis of uterine tumors containing mixed epithelial and mesenchymal elements are reviewed. The malignant mullerian mixed tumor (MMMT) is the most common neoplasm in this group, which also includes the mullerian adenofibroma and adenosarcoma, endometrial stromal neoplasms with focal epithelial differentiation, uterine tumors resembling ovarian sex cord tumors, and adenomyomas, including the atypical polypoid adenomyoma.     

9号染色体异染色质区的变异分析

目的分析疑有染色体异常个体的9号染色体异染色质区的变异。方法采集疑有染色体异常的3075名个体静脉血，其中男性1653例，女性1422例，以1515名正常人作对照，培养其淋巴细胞进行染色体核型分析。结果疑有染色体异常个体的9号染色体异染色质区的变异率为5．56％，而正常对照组9号染色体异染色质区的变异率仅为1．32％，9号染色体异染色质区的变异包括9qh＋、9qh-及inv（9）。结论疑有染色体异常个体的9号染色体异染色质区的变异率高于正常人4．2倍（P＜0．01），这说明9号染色体异染色质区的变异可能参与一些染色体病的发生。     

单个细胞染色体畸变的遗传学分析及实验对策

目的对外周血中单个细胞染色体畸变的类型及其临床表现进行遗传学分析并探讨相应对策。方法取两种培养基,采用外周血常规培养法,培养72h后收获制片,G显带,进行核型分析,以每30～100个分裂相中找到1个异常染色体核型作为单个细胞染色体畸变的诊断标准,并比较两种培养基中出现单个细胞染色体畸变的比例。结果26例外周血单个细胞染色体畸变的畸变类型可分为平衡易位,不平衡易位,倒位,缺失及性染色体数目异常等;主要临床表现包括性发育异常,不良生育史及病残等;两种培养基中出现单个细胞染色体畸变的比例有显著性差异。结论在遗传咨询中,单个细胞染色体畸变有一定的临床意义,具有这种异常的个体生育后代时可考虑做产前诊断;染色体制备要严格控制条件,使用有正规批号的培养基。