Cytogenetic study of 18 colorectal carcinomas confirmed the extensive heterogeneity and the complexity of the karyotypic picture in this tumor.Karyotypic analysis showed that chromosomes 7 and 3 were of the highest chromosomal gaining frequencies(72%,66%) and chromosomal losses were shown in chromosome 17(50%),chromosome5(44%) and chromosome 18(33%).The structual rearrangements frequently involved were 17p(78%),5q(61%),6q,7q,8p,12q,2p,etc.A great number of marker chromosomes and polyploid chromosomes had bad prognosis relatively.According to these results,we conclude that chromosomes 17,5,and 18 may play an important role in the evolution of colorectal cancer.
Objective To investigate the expressions of X-linked inhibitor of apoptosis protein （XIAP） and survivin in primary hepatocellular carcinoma tissues，and to explore the relationship between them. Methods The expressions of XIAP and survivin protein in 38 primary hepatocellular carcinoma tissues and 16 paracancerous tissues were detected by using immunohistochemistry and the expressions were scored. Results The positive expression rate of XIAP and survivin in primary hepatocellular carcinoma tissues was 81.6% （31/38）and 78.9% （30/38），respctively （P＜0.001）， and in paracancerous tissues was 12.5% （2/16）and 6.3% （1/16）， respectively （P＜0.001）. The score of XIAP expression in the well， middle，and low differentiated tissues of primary hepatocellular carcinoma was （2.91±1.31），（9.27±3.25）， and （13.08±2.26） score， respectively （F=118.948，P＜0.001）， and the score of survivin expression was （4.85±1.83）， （11.08±3.72），and （13.38±1.76） score， respectively （F=72.202，P＜0.001）. They both significantly correlated with the histological grade，but not with the size of tumor（P＞0.05）. There was significantly correlation between the expression intensity of XIAP and survivin in primary hepatocellular carcinoma tissues （r=0.764， P＜0.001）. Conclusions The expression intensity of XIAP and survivin in primary hepatocellular carcinoma tissues are both related with the differentiation of primary hepatocellular carcinoma. The expression intensity of XIAP is related with the survivin， and they may play an important role in the tumor progression and chemical resistances.
Objective To investigate whether mutations exist in codon 58 and codon 347 of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa(ADRP)． Methods Point mutations at codons 58 and 347 were detected by restriction endonuclease digestion of exons 1 and 5 amplified by polymerase chain reaction(PCR)．This method was applied to screen genomic DNAs from 57 patients of 38 families with ADRP and 60 normal controls． Results Four patients from one family of ADRP were confirmed to have a point mutation at the second nucleotide of codon 58,and 6 patients from two families of ADRP were found to have a mutation at codon 347．None of these mutations were found in 60 normal subjects． Conclusion It is suggested that molecular genetic heterogeneity exists within ADRP and some subtypes of ADRP are caused by points mutations of the rhodopsin gene． (Chin J Ocul Fundus Dis,1998,14:108-110)
【摘要】 目的 探讨宫颈上皮内瘤变（CIN）和宫颈鳞癌（SCC）组织中人类染色体端粒酶基因（hTERC）的表达和临床意义。 方法 收集2007年10月-2009年6月经病理学证实的116例宫颈脱落细胞标本，其中LSIL（CINⅠ）30例、HSIL（CINⅡ/Ⅲ）37例、SCC 16例、宫颈炎33例，用荧光原位杂交（FISH）方法检测脱落细胞hTERC基因。 结果 在宫颈炎、LSIL、HSIL和SCC组中hTERC基因的表达率分别是6.1%、16.7%、51.4%和93.8%，其中，HSIL、SCC组与宫颈炎组比较，hTERC基因阳性率差异有统计学意义（Plt;0.05），LSIL组与HSIL组比较、LSIL组与SCC组比较、HSIL组与SCC组比较，差异有统计学意义（Plt;0.05），且随着病变程度增加，hTERC基因表达率增加。 结论 hTERC基因在细胞学LSIL、HSIL和SCC中表达异常，且随病变程度增加阳性表达率也增加，可作为宫颈癌癌前病变进展的生物遗传学监测指标，并有望成为宫颈癌早期筛查方法之一。【Abstract】 Objective To explore the clinical significance and expression of the human telomerase gene (hTERC) in the cervical intraepithelial neoplasia (CIN) and squamous carcinoma of the cervix (SCC). Methods According to histological biopsy from October 2007 to June 2009, 116 pap smears were divided into LSIL (n=30), HSIL (n=37), SCC (n=16), and cervicitis (n=33) groups. Fluorescence in situ hybridization (FISH) was used to detect the expression of hTERC. Results Positive expression rate of hTERC was 6.1% in cervicitis group, 16.7% in LSIL group, 51.4% in HSIL group, and 93.8% in SCC group, respectively. Compared to cervicitis group, the expression of hTERC in HSIL and SCC groups was significantly higher (Plt;0.05). Among LSIL, HSIL, and SCC groups, there were significant differencec in hTERC expression between every two groups (Plt;0.05). From LSIL to SCC, the expression of hTERC increased obviously. Conclusion Abnormal expression of hTERC exists in LSIL, HSIL, and SCC patients, which significantly increases during malignant development. It may be a biogenetics monitor index of cervical precancerosis and will be a screening marker for cervical cancer.
Objective To investigate the relationships between circulating tumor cells (CTCs), circulating tumor endothelial cells (CTECs) and treatment methods in patients with nasopharyngeal carcinoma (NPC) at different stages of treatment. Methods The data of NPC patients at different treatment periods in West China Hospital of Sichuan University from March 2016 to November 2019 were retrospectively collected. The patients received CTCs test and part of those patients received CTECs test, by subtraction enrichment-immunostaining-fluorescence in situ hybridization. The relationships of CTCs and CTECs with radiotherapy and chemotherapy, and the correlations between CTCs and CTECs in NPC patients were analyzed. Results A total of 191 patients were included. Among them, there were 66 cases before initial treatment, 38 cases after induction chemotherapy, and 87 cases after concurrent chemoradiotherapy. A total of 127 patients received CTECs test, including 41 cases before initial treatment, 29 cases after induction chemotherapy, and 57 cases after concurrent chemoradiotherapy. The positive rates of CTCs were 89.4%, 81.6% and 69.0% respectively in the three stages of treatment, and the difference was statistically significant only between the pre-treatment group and the post-concurrent chemoradiotherapy group (P=0.003). The number of CTCs in the post-concurrent chemoradiotherapy group was lower than that in the pre-treatment group and the post-induction chemotherapy group (P<0.001, P=0.002). The number of triploid CTCs in the post-concurrent chemoradiotherapy group was significantly different from that in the pre-treatment group and the post-induction chemotherapy group (P=0.009, P=0.013). The number of tetraploid CTCs in the post-concurrent chemoradiotherapy group was significantly different from that in the post-induction chemotherapy group (P=0.007). The number of polyploidy (pentaploid or > 5 copies of chromosome 8) CTCs in the post-concurrent chemoradiotherapy group was significantly different from that in the pre-treatment group (P<0.001). The positive rates of CTECs were 70.7%, 82.8% and 64.9% respectively in the three stages of treatment, and the difference was not statistically significant (P>0.05). The number of CTECs in the post-concurrent chemoradiotherapy group was only lower than that in the post-induction chemotherapy group (P=0.009). There was no significant difference in the number of triploid or tetraploid CTECs among the three groups (P=0.265, P=0.088). The number of polyploid CTECs was statistically different only between the post-concurrent chemoradiotherapy group and the post-induction chemotherapy group (P=0.007). Spearman correlation analysis showed that there was a significant positive correlation between CTCs and CTECs (rs=0.437, P<0.001). Conclusions Concurrent chemoradiotherapy plays a decisive role in reducing the number of CTCs in the blood of NPC patients, while induction chemotherapy does not appear to directly cause changes in the number of CTCs. In NPC patients, different types of CTCs have different responses to different treatments. There is a significant positive correlation between CTECs level and CTCs level in NPC.
Objective To investigate the expression of phosphate and tension homology deleted on chromsome ten (PTEN) and Basigin1, as well as their relationships with clinicopathological factors and molecular subtypes in invasive ductal carcinoma of breast. Methods The expressions of PTEN and Basigin1 protein were examined in 76 invasive ductal carcinoma of breast tissues by immunohistochemical method, and 20 breast benign hyperplasia tissues as control. These 76 patients underwent surgery in our hospital from Jan. 2014 to Dec. 2015. Results The high-expression rate of PTEN protein in invasive ductal carcinoma of breast tissues was lower than that in benign hyperplasia tissues [56.6% (43/76) vs. 85.0% (17/20), χ2=5.457, P=0.019], while the high-expression rate of Basigin1 protein was higher than that of the benign hyperplasia tissues [51.3% (39/76) vs 25.0% (5/20), χ2=4.417, P=0.036]. The high-expression of PTEN protein was positively correlated with WHO grade and lymph node metastasis status (P<0.05). The high-expression of Basigin1 protein was positively correlated with WHO grade, lymph node metastasis status, and TNM stage (P<0.05). In addition, the high-expression of PTEN protein was associated with molecular subtypes of breast cancer (P<0.001), and its high-expression rate was higher in Luminal A and Luminal B patients; the high-expression of Basigin1 protein was associated with molecular subtypes of breast cancer too (P<0.001), and the high-expression rate of Basigin1 protein was higher in Her-2 overexpression and basal-like subtypes of breast cancer patients. Spearman correlation analysis shown that expression of PTEN protein was negatively correlated with expression of Basigin1 protein (rs=–0.481, P<0.001). Conclusion PTEN and Basigin1 protein may have some mechanisms to promote the occurrence and development of breast cancer, which provide a new basis for targeted treatment of breast cancer.
ObjectiveTo analyze the prenatal screening data of Longquanyi district, and evaluate the effect of prenatal screening technology in birth defects prevention. MethodsA total of 10230 serum samples in Chengdu Longquanyi District Prenatal Screening Center from November 2010 to December 2012 were tested and analyzed, and the risk rates of Down's Syndrome, Trisomy 18 Syndrome and Open Neural Tube Defects (ONTDs) were obtained by Risk2T risk calculation software. The results of prenatal screening were verified and evaluated by high risk referral, pregnancy tracing and pregnancy outcome follow-up. ResultsIn the 10 230 pregnant women, the positive rate of Down's Syndrome was 6.02%, Trisomy 18 Syndrome was 0.42% and Open Neural Tube Defects was 0.57%, and compliance rate of prenatal diagnosis was 51.56%. In the 57 high risk pregnant women of ONTDs, 53 women selected system color doppler ultrasound with a proportion of 92.98%, but in the 647 high risk pregnant women of Down's or Trisomy 18 Syndrome, only 47.30% of them chose amniocentesis for diagnosis. The χ2 analysis showed that the difference was significant compared between system color doppler ultrasound and amniocentesis group (P<0.05). By diagnosis, 3 Down's Syndrome patients were found. ConclusionSecond trimester maternal serum prenatal screening plays an important role in birth defects prevention in Longquanyi district. However, there is a great need to improve compliance rate of prenatal diagnosis of Down's and Trisomy 18 Syndrome.