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New mechanism of partial duplication and deletion of chromosome 8:A case report

World Journal of Clinical Cases 2021年第24期9卷 7139-7145页

作者： Yan Jiang Shuang Tang Fang He Jue-Xin Yuan Zhu Zhang Office of Prenatal Diagnosis Mianyang People’s HospitalMianyang 621000Sichuan ProvinceChina Department of Obstetrics Mianyang People’s HospitalMianyang 621000Sichuan ProvinceChina Office of Prenatal Diagnosis West China Second University HospitalSichuan UniversityChengdu 610000Sichuan ProvinceChina

BACKGROUND During meiosis,the recombination of homologous chromosomes produces some new heritable mutations,which are the basis of biological evolution and ***,when there is pericentric inversion of chromosomes,unbalanced gametes will be formed in the process of germ cell *** SUMMARY A 23-year-old pregnant woman at 25 wk of gestation wanted to terminate her pregnancy due to fetal chromosomal *** had no exposure to toxic or hazardous substances before and during pregnancy,no history of medication usage during pregnancy,and she underwent cystectomy of ovarian cysts in *** the second day of the 16th week of gestation,non-invasive prenatal testing showed chromosome 8 copy number *** genetic counseling,her pregnancy was *** Recombinant offspring chromosome is rarely seen when the inversion segment is shorter than one-third of the chromosome *** terms of the mechanism of chromosome 8 duplication/deletion occurrence,attention should be paid to the production of unbalanced gametes by the pairing of homologous chromosome during meiosis,and the possibility of mitotic recombination exchange as well.

关键词： chromosome 8 Spontaneous mutation Mitosis Non-invasive prenatal testing Case report

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Analysis on chromosome 8 heterozygosity loss in humanprostate carcinoma and high grade prostaticintraepithelial neoplasia

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Asian Journal of Andrology 2004年第1期6卷 52-52页

作者： Zhao-MingWang FemandMacMouneLai DepartmentofPathology FirstAffiliatedHospitalZhejiangUniversityMedicalCollegeHangzhou310003China DepartmentofAnatomicalandCellularPathology ChineseUniversityofHongKongHongKongChina

Objective: To analysis the chromosome 8 heterozygosity loss in human prostate carcinoma and high grade prostatic intraepithelial neoplasia. Methods: Pure DNA was obtained from prostate neoplasms and normal tissues by tissue microdissection. The chromosome 8 heterozygosity loss was detected by PCR based micro-satellite polymorphism analysis technique using 14 pairs of microsatellite primers in 10 samples of prostate carcinoma and 10 samples of high grade prostatic intraepithelial neoplasia. Results: There were different frequencies of chromosome 8 heterozygosity loss in 10 samples of prostate carcinoma. 8p23.1-p23.2 and p21-p22 were two high frequency heterozygosity loss regions. chromosome 8 heterozygosity loss was detected in 3 samples of high grade prostatic intraepithelial neoplasia. Conclusion: There were high frequency heterozygosity loss regions on chromosome 8 of prostate carcinoma, located at 8p23.1-p23.2 and p21-p22. The high grade prostatic intraepithelial neoplasia and prostate carcinoma share the same allelic loss on 8p. Tumor suppressor genes located at these two regions may be potentially involved in the initiation and progression of prostate carcinoma.

关键词： prostate neoplasm heterozygosity loss chromosome 8 tumor suppressor gene

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A Panel of Genes Identified as Targets for 8q24.13-24.3 Gain Contributing to Unfavorable Overall Survival in Patients with Hepatocellular Carcinoma

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Current Medical Science 2018年第4期38卷 590-596页

作者： Kun ZHAO Yu ZHAO Jia-yi ZHU Hui DONG Wen-ming CONG Yi YU Hui WANG Zhong-Zheng ZHU Qing XU Department of Oncology Shanghai Tenth People's Hospital Tongji University School of Medicine Shanghai 200072 China Shanghai Clinical College of Anhui Medical University Shanghai 200072 China Tongji Medical College Huazhong University of Science and Technology Wuhan 430030 China Department of Pathology Eastern Hepatobiliary Surgery Hospital Second Military Medical University Shanghai 200438 China

Copy number aberrations （CNAs） in chromosome arm 8q have been associated with unfavorable clinical outcomes of several cancers and progressive tumor characteristics of hepatocellular carcinoma （HCC）. This study was to identify correlation of CNAs in 8q with clinical outcomes of HCC patients, and further screen for differentially expressed genes in outcome-related CNAs. Array comparative genomic hybridization and expression arrays were performed to detect CNAs and expression levels, respectively. The correlations between CNAs in 8q and outcomes were analyzed in 66 patients, with a median follow-up time of 45.0 months （range, 2.6-108.6 months）. One hundred and nine cases were further evaluated to identify differentially expressed genes in the potential outcome-related CNAs. Copy number gain in 8q was observed in 22 （33.3%） of the 66 HCC cases. The most recurrent gains （with frequencies 〉20%） were 8q 13.3-21.3, 8q21.3-23.3, 8q23.3-24.13, 8q24.13-24.3, and 8q24.3. Survival analysis showed that 8q24.13-24.3 gain was significantly associated with reduced overall survival （P=0.010）. Multivariate Cox analysis identified 8q24.13- 24.3 gain as an independent prognostic factor for poor overall survival （HR=2.47; 95% CI=1.16-5.26; P=0.019）. A panel of 17 genes within the 8q24.13-24.3 region, including ATAD2, SQLE, PVT1, ASAP1, and NDRG1 were significantly upregulated in HCCs with 8q24.13-24.3 gain compared to those without. These results suggest that copy number gain at 8q24.13-24.3 is an unfavorable prognostic marker for HCC patients, and the potential oncogenes ATAD2, SQLE, PVT1, ASAP1, and NDRG1 within the regional gain, may contribute coordinately to the 8q24.13-24.3 gain-related poor prognosis.

关键词： chromosome 8 copy number aberration hepatocellular carcinoma prognosis gene expression

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Combined detection and subclass characteristics analysis of CTCs and CTECs by SE-iFISH in ovarian cancer

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Chinese Journal of Cancer Research 2021年第2期33卷 256-270页

作者： Hongyan Cheng Shang Wang Wenqing Luan Xue Ye Sha Dou Zhijian Tang Honglan Zhu Peter Ping Lin Yi Li Heng Cui Xiaohong Chang Department of Obstetrics and Gynecology Peking University People’s HospitalBeijing 100044China Center of Gynecologic Oncology Peking University People’s HospitalBeijing 100044China Cytelligen San DiegoCalifornia 92121USA

Objective:Hematogenous metastasis is essential for the progression of ovarian cancer(OC),and circulating tumor cells(CTCs)are part of the metastatic ***,the detection rate of CTC is low due to the use of less sensitive detection ***,this study aimed to detect CTCs and circulating tumorigenic endothelial cells(CTECs)in patients with OC using subtraction enrichment and immunostaining and fluorescence in situ hybridization(SE-iFISH).Methods:We enrolled a total of 56 subjects,including 20 OC patients and 36 ovarian benign tumor *** and CTECs were captured by subtraction enrichment(SE)and counted and classified according to immunofluorescence staining of tumor markers(TMs)carbohydrate antigen 125(CA125)and human epididymis protein 4(HE4)combined with fluorescence in situ hybridization(iFISH)of chromosome 8(Chr8)*** diagnostic value and subtype characteristics of CTCs and CTECs were ***:The detection rate of CTCs by SE-iFISH was *** with CA125 and HE4,Chr8 aneuploidy was the major identification feature of *** counts in OC were statistically higher than those in benign *** and CTEC with≥pentaploidy were detected in both groups,illustrating the poor diagnostic value of CTC or *** of triploid and tetraploid CTC subtypes were significantly different,and combined detection of triploid and tetraploid CTCs showed the best diagnostic *** contrast,the distribution of CTECs in the OC and benign groups had no statistically significant *** CTCs accounted for over 1/3 of the total CTC *** also found that small CTCs and CTECs primarily comprised triploid cells,while large CTCs and CTECs mainly comprised pentaploidy and ***:The application of SE-iFISH offered a more comprehensive understanding of heterogeneous CTCs and CTECs in *** of subclass characteristics of the CTCs and CTECs according to Chr8 aneuploidy and cell size may broaden their p

关键词： OC CTC CTEC chromosome 8 aneuploidy SE-iFISH

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