年轻早期子宫内膜癌患者保留卵巢的安全性及预后

目的探讨年轻的I期子宫内膜癌患者保留卵巢的安全性及预后。方法回顾性分析北京协和医院2005年1月至2011年12月间接受手术治疗的年龄≤45岁的I期子宫内膜癌患者的临床病理资料。根据术中是否保留卵巢分为保留卵巢组和切除卵巢组,比较分析两组的临床病理特征及预后。结果研究共纳入患者72例,其中保留卵巢组25例(34.7%),切除卵巢组47例(65.3%)。保留卵巢组患者与切除卵巢组患者相比更年轻(P=0.007),并且接受淋巴结切除的比例明显低于保留卵巢组患者(P0.001)。两组患者在分期、肿瘤分级、肌层浸润深度以及术后辅助治疗方面均无统计学差异(P0.05)。72例患者的中位随诊时间为89个月(7~131月),共有5例患者复发,没有患者死亡。Kaplan-Meier生存曲线及log rank检验显示两组的无复发生存时间无差异(P=0.194)。COX风险回归分析发现保留卵巢对无复发生存期无影响(HR=3.08,95%CI 0.54~18.44)。结论年轻的早期子宫内膜癌患者保留卵巢是安全的,对患者的无复发生存时间无显著影响。     

Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases

We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX,?11,+der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/46,X,idic(Xq),?12,+der(12)t(X;12)(p11.2;p13.3). Molecular-cytogenetic analysis confirmed the origin of the derivative 12 chromosome in the latter. We present a literature review of reports with mosaic cell lines of structural chromosome abnormalities that share the same chromosome breakpoint. © 1993 Wiley-Liss, Inc.     

An endometrial stromal sarcoma with clonal cytogenetic abnormalities

Cytogenetic analysis of a low-grade metastatic endometrial stromal sarcoma in a 58-year-old woman revealed translocations involving both homologues of chromosome 7 with chromosomes 13 and 17, respectively, and an interstitial deletion of the long arm of chromosome 11. The karyotype of the tumor was 46,XX,t(7;13)(q11.1;p13),t(7;17)(p21;q12),del(11)(q13q21).     

少弱精子症、死精子症、无精子症患者细胞遗传学分析

目的了解少弱精子症、死精子症、无精子症与染色体之间的联系。方法对2011年上半年生殖门诊101例少弱精子症、死精子症、无精子症患者,进行染色体检测,并对结果进行比较分析。结果染色体异常总数占23例,异常发生率达22.8%。性染色体异常9例,占异常总数的39%,常染色体异常14例,占异常总数61%。结论男性不育少弱精子症、死精子症、无精子症患者常规做染色体检查是必要的,对确定其是否有治疗价值提供重要依据。     

Abnormalities of chromosome #13 in retinoblastomas from individuals with normal constitutional karyotypes

Constitutional chromsome abnormalities have been associated with retinoblastoma, Wilms' tumor, and a familial form of renal cell carcinoma. For each tumor type, the particular chromosome segment involved in the observed rearrangements is different: in retinoblastoma, that segment is band q14 on chromosome #13. We now present evidence that in retinoblastoma, structural abnormalities involving the particular chromosome segment identified in the constitutional cases can also occur in the tumors of individuals with normal constitutional karyotypes. Six cases with retinoblastomas in one or both eyes were analyzed; deletions/rearrangements involving 13q14 were found in the tumor cell karyotypes of five of the six. These observations suggest that changes in a gene or genes at a common site (13q14) play a role in tumorigenesis in all forms of retinoblastoma, sporadic as well as heritable.     

Mortality and cancer incidence in persons with numerical sex chromosome abnormalities: a cohort study

Mortality and cancer incidence were assessed in a cohort of 1373 patients with numerical sex chromosome abnormalities diagnosed at three cytogenetics centres in Britain during 1959–90, and were compared with expectations from national rates. Four hundred patients with Turner's syndrome were followed, of whom 62 died, with a relative risk (RR) of death of 4.16 (95% confidence interval (CI) 3.22–5.39). Turner's syndrome patients had greatly raised risks of death from diseases of the nervous, cardiovascular, respiratory, digestive and genitourinary systems. One hundred and sixty three deaths occurred among 646 patients with Klinefelter's syndrome with a 47,XXY constitution, giving an RR of 1.63 (1.40–1.91). Mortality in these patients was significantly raised from diabetes and diseases of the cardiovascular, respiratory and digestive systems. There was also significantly increased mortality for patients with X polysomy (RR = 2.11 (1.43–3.02)) and Y polysomy (RR = 1.90 (1.20–2.85)), the former with significantly increased mortality from cardiovascular disease and the latter from respiratory disease. The only significantly raised risks of cancer incidence or mortality in the cohort were for lung cancer and breast cancer in patients with Klinefelter's syndrome with a 47,XXY constitution, and non-Hodgkin's lymphoma in men with more than three sex chromosomes.     

紫外线和低叶酸对异常核型者染色体稳定性影响的研究

对54例异常核型者和30名对照作紫外线诱导姊妹染色单体交换及低叶酸诱导染色体脆性部位表达和微核检测，发现异常核型者三项实验数值限（8．75±2．14／细胞、3．89±1．18％、7．30±1．98％）比对照（6．13±1．03／细胞、2．03±0．72％、4．50±1．11％）有极显著性增加，提示在不良环境因素中，异常核型者更易发生染色体畸变。     

Pre-implantation endometrial leukocytes in women with recurrent miscarriage.

Immunohistochemistry was used to investigate the leukocyte populations in the endometrium of women suffering recurrent miscarriage. Mid-luteal phase endometrial biopsies were taken from 22 patients with idiopathic recurrent miscarriage and from nine women with normal obstetric histories. The samples were dated histologically and stained with a panel of monoclonal antibodies to identify leukocytes. The outcome of any pregnancy in subsequent cycles following the biopsy was determined. Similar numbers of cluster designation (CD)3(+) and CD8(+) cells were seen in both groups. However, CD4(+), CD14(+), CD16(+), CD56(+) and MHC class II(+) cells were significantly higher in the recurrent miscarriage group than in the controls. Two patients had B cells (CD22(+)) in their endometrium. No CD57(+) cells were seen in the controls; however, eight of the patients had a few CD57(+) cells present. Only two patients, both from the recurrent miscarriage group, had CD69(+) leukocytes in their endometrium. Patients who had miscarriages following endometrial biopsy had significantly more CD4(+), CD8(+), CD14(+), CD16(+), and CD56(+) leukocytes in their endometrium than either those who had live births or women with proven fertility. A different population of leukocytes was found in the pre-implantation endometrium from recurrent miscarriage patients as compared to those from fertile controls. These differences were accentuated in women who had a miscarriage subsequent to the biopsy compared with those who subsequently had a live birth.     

Complex karyotypes confer a poor survival in adult acute myeloid leukemia with unfavorable cytogenetic abnormalities

Cytogenetics represents the most valuable predictor for a poor outcome in patients with acute myeloid leukemia (AML), but it encompasses a heterogeneous patient population who might have diverse pathogenesis and clinical courses. In particular, the significance of complex chromosome aberrations within this cohort has seldom been addressed before. We analyzed 48 AML patients with adverse-risk cytogenetics in this study. The complex karyotype (three or more numerical/structural cytogenetic changes; 29 patients) was found to occur more frequently among the elderly than a noncomplex adverse karyotype (19 patients; median age, 71 vs. 48; P = 0.005). The patients' performance status was the sole independent factor determining the complete remission rate among patients receiving standard induction chemotherapy. On survival analysis, two factors independently predicted a longer overall survival: noncomplex karyotypes [vs. complex karyotypes, hazard ratio (HR) 0.434, 95% confidence interval (CI) 0.189-0.994, P = 0.048] and achievement of complete remission [(CR) vs. CR not reached, HR 0.170, 95% CI 0.051-0.572, P = 0.004)]. In conclusion, among AML patients with adverse cytogenetics, complex chromosomal aberrations occurred more frequently among the elderly and predicted a poor outcome. These patients should be considered as a unique entity and be separated from those with a noncomplex adverse cytogenetic change. Exploring the underlying mechanisms of leukemogenesis could improve the therapeutic outcome for this group of patients.     

Clonal chromosome abnormalities with preferential involvement of chromosome 3 in patients with porokeratosis of Mibelli

Clonal chromosome abnormalities were found in cultured fibroblasts from three sibs and one sporadic case with porokeratosis of Mibelli. Chromosome 3 especially involved region p12-14. This region includes the most common fragile site in humans, and the proximal region of chromosome 3 short arm is involved in a variety of neoplastic conditions. We conclude that porokeratosis of Mibelli, an autosomal dominant disorder, is associated with chromosomal instability. Porokeratosis of Mibelli is known to also be associated with increased susceptibility to malignant disease. The chromosome instability may well predispose to malignancy.     

Ring chromosome 6 in a child with minimal abnormalities

We describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases. Five other patients with a ring 6 have been reported. The clinical and cytogenetic observations of all six patients are compared and discussed.     

Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities

Sixty-seven adolescents participated in this protocol, including 42 with sex chromosome abnormalities and 25 controls. Results from a battery of neuropsychological tests indicated karyotype specific patterns of neuropsychological impairment: (1) 47,XXY boys had unimpaired intelligence but reduced abilities in verbal fluency and reading; (2) 47,XXX girls experienced reduced general intelligence accompanied by impaired scores on individual tests of attention, concept formation, spatial thinking, verbal fluency, and academic skills, while retention of memorized information was a relative strength; (3) among the 45,X girls average intelligence level was also reduced along with scores on tests of attention, concept formation, verbal fluency, spatial thinking, and academic skills, and an atypical pattern of hand dominance was identified; (4) test scores in the group of mosaic females did not differ from those of controls. Test scores and patterns of personal adaptation were quite variable in all groups; while eight nonmosaic propositi required intensive special education assistance in their public schooling, eight others have attended college.© 1993 Wiley-Liss, Inc.     

染色体异常核型淋巴细胞建系及其在染色体分析室间质评中的应用

目的研制染色体异常核型的质量控制细胞,探讨染色体核型分析的室间质评方法。方法用EB病毒(EBvirus,EBV)转染的人类B淋巴细胞建株法制备染色体异常核型的质控细胞,并择时发放到各参评实验室作染色体核型分析项目的室间质评试验,以4级打分法评价结果。结果研制了6类染色体异常核型的质控细胞,其核型分别为46,X,t(Y;5)(q12;q21)、46,XY,15p 、46,XX,t(13;18)(q12;q21)、46,X,r(Xp)、46,X,t(Y;Y)、46,XX,t(9;20)(p13;p13);在室间质评中,各参评实验室回报的相对应于6类质控细胞排序的结果的完全正确率分别为82.1%、92.0%、84.6%、80.8%、86.2%、74.1%,完全错误率分别为10.7%、8.0%、11.5%、19.2%、13.8%、18.5%,总的完全正确率、部分正确率、部分错误率和完全错误率分别为83.2%、0.6%、2.5%和13.7%。结论疑难、罕见病例的染色体核型分析存在较高的误诊率,需定期开展室间质量评价,以动态了解并提高其诊断质量。     

Adenocarcinoma of the gallbladder: chromosome abnormalities in a genetic form of cancer

Chromosome studies on gallbladder adenocarcinoma in a Papago Indian woman were performed. These studies revealed a high degree of aneuploidy including multiple instances of missing chromosomes, extra chromosomes, and chromosome rearrangements. Double minute chromosomes and homogeneous staining regions on chromosomes were present in the cancer cells. To our knowledge this is the first report on the cytogenetic analysis of a gallbladder cancer. Chromosome studies on gallbladder cancers will be of unusual interest because of the relatively high frequency of this rare genetic form of cancer in American Indians.     

Radiation-associated sarcomas are characterized by complex karyotypes with frequent rearrangements of chromosome arm 3p

Ionizing radiation is a well-known risk factor for sarcoma development. To investigate whether radiation-associated sarcomas are characterized by chromosome aberrations that distinguish them from de novo sarcomas, we identified those patients in our series of more than 500 cytogenetically abnormal sarcomas that fulfilled the following criteria: (1) each patient should have been irradiated for another malignancy at least 3 years prior to the sarcoma diagnosis, and (2) the sarcoma should have developed within the field of radiation. Ten patients fulfilling these criteria could be retrieved (median age at sarcoma diagnosis was 55 years, range 17-79; median latency period between primary tumor and radiation-associated sarcoma was 9 years, range 4-30). The diagnoses were typical for radiation-associated sarcomas: 2 each of malignant fibrous histiocytoma, leiomyosarcoma, and pleomorphic sarcoma, and 1 each of osteosarcoma, fibrosarcoma, myxofibrosarcoma, and spindle cell sarcoma. All 10 cases had relatively complex karyotypes with multiple, mostly unbalanced, structural rearrangements, similar to what has been reported in de novo sarcomas of the corresponding histologic subtypes. The only cytogenetic features that were unusually frequent among the radiation-associated sarcomas were the finding of unrelated clones in 3 cases, and loss of material from chromosome arm 3p, in particular 3p21-3pter, in 8 cases. Loss of the same chromosome segment has been described in 4 of the 8 previously published cases of radiation-associated sarcomas that have been analyzed after short-term culturing, which makes this imbalance significantly (P < 0.001) more frequent among radiation-associated sarcomas (12 of 18 cases) than among unselected cases of the corresponding histologic subtypes (74 of 282 cases). In contrast to the cytogenetic results, no 3p deletions were detected among the 6 cases of the present series that could be analyzed by comparative genomic hybridization (CGH). The most frequent imbalance detected by CGH was gain of 15cen-q15 (3 cases), followed by loss of chromosome 13 and gain of 5p, and 7cen-q22, each detected in 2 cases.