Congenital uterovaginal aplasia commonly occurs in Mayer-Rokitansky-K€ uster-Hauser syndrome. Various methods of neovagina creation exist, including nonsurgical self-dilation, surgical dilation, and surgical procedures involving skin or intestinal transplants. Subsequent uterus transplantation is necessary to enable pregnancy. We review the main characteristics, advantages, and disadvantages of established neovagina creation methods and discuss their suitability regarding subsequent uterus transplantation. Suitability criteria include sufficient vaginal length, absence of previous major intra-abdominal surgery, a natural vaginal axis, and a natural vaginal epithelium. In conclusion, Vecchietti-based laparoscopically assisted neovagina creation provides ideal functional conditions for uterus transplantation. Nonsurgical self-dilation and Wharton-Sheares-George vaginoplasty may also be suitable.
Patients with documented metastatic breast cancer and therapy 1462 Patients with available germline DNA from time of study entry and successful genotyping 112 patients without metastatic breast cancer 42 patients with no germline DNA available 20 BRCA1 43 BRCA2 35 CHEK2 11 PALB2 9 ATM 3 RAD51D 3 BARD1 2 MSH6 123 patients (8.4%) with mutation in a moderate or high risk gene 1339 patients without mutation in a moderate to high risk gene Data collection Clinical data were collected by trained and dedicated staff at the sites participating in the prospective PRAEGNANT study. These data are monitored using automated plausibility checks and through random on-site field monitoring. Blood Samples and Genotyping Germline DNA was extracted from EDTA-Blood samples, which were obtained at the time of study entry. DNA libraries for coding sequences and intron/exon boundaries of coding exons from 37 cancer risk genes, including BRCA1 and BRCA2, were generated using a QIAseq multiplex PCR-base panel. Libraries were pooled in batches of 768 and sequenced on a HiSeq4000 to 400× mean coverage of target regions. After demultiplexing, trimming of adapters, and alignment of sequences to the human genome, variants were called using GATK Haplotype Caller and Vardict. Likely pathogenic mutations were validated using Sanger sequencing. Copy number variants were identified using PatternCNV. Statistical Analysis Continuous characteristics are presented as means and standard deviations (SD), categorical characteristics are presented as frequencies and percentages. The influence of ALL genes, BRCA1/2, CHEK2, and PALB2 on overall survival was analyzed using the Kaplan-Meier product limit method and Cox regression models. Kaplan-Meier curves and hazard ratios (HR) with 95% confidence interval (CI) adjusted for age at study entry, body mass index, hormone receptor status, HER2 status, grading, and therapy line are shown.
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