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Abstract Background Cell-free DNA (cfDNA) is emerging as a potential biomarker for the detection of ovarian cancer (OC). Recently, we reported a method based upon cfDNA whole-genome sequencing data including the nucleosome distribution (nucleosome footprinting NF), terminal signature sequence (motif), DNA fragmentation (fragment), and copy number variation (CNV).In the present study, we explored whether multiomics early screening technology in cfDNA can be applied for early screening of ovarian cancer. Methods Fifty-nine patients with OC and 100 healthy controls were included in this prospective study. Cell-free DNA was extracted from plasma and analyzed by low-pass whole-genome sequencing. Genomic features were obtained for all samples of the cohort, including copy number variation (CNV), 5’-end motifs, fragmentation profiles, and nucleosome footprinting (NF). An integrated scoring system termed the OC score was developed based on the performance of these four features. Results All four features showed diagnostic potential for OC. Based on the unique genome features of cfDNA, the OC score has high accuracy in distinguishing OC patients from healthy controls (AUC 97.7%; sensitivity 94.7%; specificity 98.0%) as a new comprehensive diagnostic method for OC. The OC score showed a gradual trend from healthy controls to OC patients with different stages, especially for early OC monitoring of concern, which achieved a satisfactory sensitivity (85.7%) at a high specificity. Conclusions This is the first study evaluating the potential of cell-free DNA for the diagnosis of primary OC using multidimensional early screening technology. We present a promising method to increase the accuracy of prediction in patients with OC.

Abstract Background Ovarian endometrioma is a common gynecologic disease among reproductive-aged women. Pregnancy-related hormonal status may lead to changes of decidualization, which may resemble ovarian malignancies in sonographic appearance. Here we present a case of decidualized ovarian endometrioma clinically mimicking malignant transformation. Case presentation A 37-year-old pregnant woman presented to our hospital at 25 + 5 weeks of gestation with a persistent left adnexal mass that was first detected on routine ultrasound in the first trimester. Transvaginal and transabdominal ultrasound showed a cystic mass of size 8.4 × 5.8 cm in the left ovary with abundant blood flow signals in the papillary medium echo of the capsule wall and inner wall, raising concern for malignant ovarian tumor. After a multidisciplinary discussion, the patient underwent laparoscopic left salpingo-oophorectomy. The results of the frozen section revealed decidualized endometrioma and the final histopathology confirmed endometrioma with extensive decidualization. The patient’s postoperative recovery was uneventful and she was discharged on the 4th postoperative day. Conclusions Decidualized ovarian endometrioma is rare. Sonography and magnetic resonance imaging are helpful for differential diagnosis. Conservative management of expectant management and serial monitoring should be adopted if decidualized endometriosis is suspected.

Abstract Background Ovarian clear cell carcinoma (OCCC) is the second most common ovarian cancer after serous carcinoma in Southeast Asia. OCCC has a more unfavourable clinical outcome due to a poor response to platinum-based chemotherapy compared with serous carcinoma. The identification of biomarkers related to the prognosis of OCCC is critically important for an improved understanding of the biology that drives OCCC progression and leads to poor outcomes. To detect differences in gene expression profiles between OCCC and high-grade serous ovarian carcinoma (HGSOC), twelve patients with OCCC and twelve patients with HGSOC were recruited in whom the pathological diagnosis was confirmed on surgically resected specimens. Results Compared with HGSOC, OCCC has 609 differentially expression genes, and 199 are significantly different (P

Abstract Background B-cell-specific Moloney murine leukemia virus integration site 1 (BMI1) might be an appropriate biomarker in the management of epithelial ovarian cancer (EOC). However, the biological role of BMI1 and its relevant molecular mechanism needs further elaboration. Clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system is an excellent genome-editing tool and is scarcely used in EOC studies. Methods We first applied CRISPR/Cas9 technique to silence BMI1 in EOC cells; thereafter we accomplished various in vivo and in vitro experiments to detect biological behaviors of ovarian cancer cells, including MTT, flow cytometry, Transwell, real-time polymerase chain reaction and western blotting assays, etc.; eventually, we used RNA sequencing to reveal the underlying molecular traits driven by BMI1 in EOC. Results We successfully shut off the expression of BMI1 in EOC cells using CRISPR/Cas9 system, providing an ideal cellular model for investigations of target gene. Silencing BMI1 could reduce cell growth and metastasis, promote cell apoptosis, and enhance the platinum sensitivity of EOC cells. BMI1 might alter extracellular matrix structure and angiogenesis of tumor cells through regulating Focal adhesion and PI3K/AKT pathways. Conclusion BMI1 is a potential biomarker in EOC management, especially for tumor progression and chemo-resistance. Molecular traits, including BMI1 and core genes in Focal adhesion and PI3K/AKT pathways, might be alternatives as therapeutic targets for EOC.

Abstract Background To evaluate the association between adjuvant chemotherapy and clinical outcomes in patients with stage IC adult granulosa cell tumor (AGCT). Methods We performed a retrospective study of patients with stage IC AGCT diagnosed at our hospital from January 1985 to September 2015. We analyzed descriptive statistics, and performed univariate and multivariate and Kaplan–Meier survival analyses. Results Sixty stage IC AGCT patients were identified, including 28 in the no adjuvant chemotherapy group (NACG) and 32 in the adjuvant chemotherapy group (ACG). The median follow-up time was 88 months (range: 9–334 months). Sixteen patients developed recurrences, including nine in the NACG and seven in the ACG groups. Univariate analysis identified incomplete surgical staging and initial treatment place as associated with disease-free survival (DFS) (P = 0.003 and 0.038, respectively). Incomplete surgical staging remained a risk factor for recurrence in multivariate analysis (hazard ratio (HR) = 3.883, 95% confidence interval (CI): 1.123–13.430, P = 0.032). The 5-year DFS rates in the NACG and ACG groups were 76.3% and 87.5% respectively (P = 0.197). Adjuvant chemotherapy was thus not associated with improved DFS. Furthermore, the number of chemotherapy cycles was not associated with recurrence rate (≤3 cycles vs. > 3 cycles, HR = 0.613, 95% CI: 0.112–3.351, P = 0.572). Conclusion Administration of adjuvant chemotherapy does not improve DFS in patients with stage IC AGCT. Further studies with larger samples involving multi-institutional collaboration are needed to validate new treatment regimens for this disease.