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Association of chromosome 7 aneuploidy measured by fluorescence in situ hybridization assay with muscular invasion in bladder cancer

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Cancer Communications 2020年第4期40卷 167-180页

作者： Xiayao Diao Jinhua Cai Junjiong Zheng Jianqiu Kong Shaoxu Wu Hao Yu Hao Huang Weibin Xie Xiong Chen Chengran Huang Lifang Huang Haide Qin Jian Huang Tianxin Lin Department of Urology Sun Yat-sen Memorial HospitalSun Yat-senUniversityGuangzhouGuangdong510120P.R.China Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation Sun Yat-Sen Memorial HospitalSun Yat-Sen UniversityGuangzhouGuangdong510120P.R.China Department of Neurology Sun Yat-sen Memorial HospitalSun Yat-sen UniversityGuangzhouGuangdong510120P.R.China State Key Laboratory of Oncology in South China GuangzhouGuangdong510120P.R.China

Background:The preoperative prediction of muscular invasion status is important for adequately treating bladder cancer(BC)but nevertheless,there are some existing dilemmas in the current preoperative diagnostic accuracy of BC with muscular ***,we investigated the potential association between the fluorescence in situ hybridization(FISH)assay and muscular invasion among patients with BC.A cytogenetic-clinical nomogram for the individualized preoperative differentiation of muscle-invasive BC(MIBC)from non-muscle-invasive BC(NMIBC)is also ***:All eligible BC patients were preoperatively tested using a FISH assay,which included 4 sites(chromosome-specific centromeric probe[CSP]3,7,and 17,and gene locus-specific probe[GLP]-p16 locus).The correlation between the FISH assay and BC muscular invasion was evaluated using the Chi-square *** the training set,univariate and multivariate logistic regression analyses were used to develop a cytogenetic-clinical nomogram for preoperative muscular invasion ***,we assessed the performance of the nomogram in the training set with respect to its discriminatory accuracy and calibration for predicting muscular invasion,and clinica usefulness,which were then validated in the validation ***,model comparison was set to evaluate the discrimination and clinical usefulness between the nomogram and the individual variables incorporated in the ***:Muscular invasion was more prevalent in BC patients with positive CSP3,CSP7 and CSP17 status(OR[95%CI],2.724[1.555 to 4.774],P<0.001;3.406[1.912 to 6.068],P<0.001 and 2.483[1.436 to 4.292],P=0.001,respectively).Radiologydetermined tumor size,radiology-determined clinical tumor stage and CSP7 status were identified as independent risk factors of BC muscular invasion by the multivariate regression analysis in the training ***,a cytogenetic-clinical nomogram incorporating these three independent risk factors was constructed and was observed

关键词： chromosome aneuploidy fluorescence in situ hybridization muscular invasion nomogram preoperative prediction urinary bladder neoplasms

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Current Status and Recent Advances in Preimplantation Genetic Testing for Structural Rearrangements

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Reproductive and Developmental Medicine 2020年第1期4卷 1-6页

作者： Shuo Zhang Cai-Xia Lei Xiao-Xi Sun Cong-Jian Xu Department of Genetics Shanghai Ji Ai Genetics and IVF InstituteObstetrics and Gynecology HospitalFudan UniversityShanghai 200011China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Obstetrics and Gynecology HospitalFudan UniversityShanghai 200011China

Preimplantation genetic testing(PGT)is an early form of prenatal genetic diagnosis,which can identify the abnormal embryos cultured in vitro,allow only transfer of genetically normal embryos,and improve the pregnancy *** recent years,the rapid development of microarrays and next-generation sequencing(NGS)technologies has remarkably accelerated the clinical application of *** particular,a variety of detection methods have emerged and achieved significant progress in PGT for structural rearrangements(PGT-SR).The detection-related abilities of these methods range from the detection of limited chromosome aneuploidy to comprehensive chromosome screening of the whole genome to differentiation of embryos with normal or balanced translocation/inversion *** this study,we reviewed PGT-SR-related detection techniques to provide a better reference for clinical application and *** have also discussed the potential development of novel techniques in the future.

关键词： chromosome aneuploidy Inversion Karyotype Preimplantation Genetic Testing Structural Chromosomal Rearrangement Structural Rearrangement Translocation Karyotype

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