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Supplementary Figure from Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools

Supplementary Table from Variant Identification in BARD1, PRDM9, RCC1, and RECQL in Patients with Ovarian Cancer by Targeted Next-generation Sequencing of DNA Pools

Several ovarian cancer susceptibility genes have been discovered, but more are likely to exist. In this study, we aimed to analyze knowledge-based selected genes, that is, BARD1, PRDM9, RCC1, and RECQL, in which pathogenic germline variants have been reported in patients with breast and/or ovarian cancer. As deep sequencing of DNA samples remains costly, targeted next-generation sequencing of DNA pools was utilized to screen the exons of BARD1, PRDM9, RCC1, and RECQL in approximately 400 Polish ovarian cancer cases. A total of 25 pools of 16 samples (including several duplicated samples with known variants) were sequenced on the NovaSeq6000 and analyzed with SureCall (Agilent) application. The set of variants was filtrated to exclude spurious variants, and, subsequently, the identified rare genetic variants were validated using Sanger sequencing. No pathogenic mutation was found within the analyzed cohort of patients with ovarian cancer. Validation genotyping of filtered rare silent and missense variants revealed that the majority of them were true alterations, especially those with a higher mutation quality value. The high concordance (R2 = 0.95) of population allele frequency for 44 common SNPs in the European control population (gnomAD) and our experiment confirmed the reliability of pooled sequencing. Mutations in BARD1, PRDM9, RCC1, and RECQL do not contribute substantially to the risk of ovarian cancer. Pooled DNA sequencing is a cost-effective and reliable method for the initial screening of candidate genes; however, it still requires validation of identified rare variants.Prevention Relevance:BARD1, PRDM9, RCC1, and RECQL are not high/moderate-risk ovarian cancer susceptibility genes. Pooled sequencing is a reliable and cost-effective method to detect rare variants in candidate genes.

Complicated or unusual cases appear in clinical practice. It's important to know how to react when we face clinical difficulty. The more unusual the case, the longer or more demanding the decision-making process is. In this case we present a patient with a gigantic ovarian tumor whose diagnosis was overturned, and the choice of the surgical procedure changed, which makes this case a very educative example of why we should consult our patients, whenever we may encounter doubts or difficulties in a therapeutic process.

A 58-year-old female ovarian cancer patient was admitted to a gynecological surgery unit from a gynecological chemotherapy unit because of right lower limb vein thrombosis. During hospitalization the patient reported a major breast enlargement occurring within a few days and mentioned a breast injury occurring a month earlier. Ultrasound performed by gyne-sonologist as well as mammography and magnetic resonance imaging examinations of the left breast revealed suspected lesion. Core-needle biopsy was performed. The histopathology examination confirmed ovarian cancer to breast metastasis. Patient died due to lymphangitis carcinomatosa as the cause of respiratory failure. The case illustrates the possible sequence of ovarian cancer development ending with breast metastasis that occurs in 0.03-0.6% of all breast cancer patients.

Background: Myometrial invasion (MI) is a parameter currently used in transvaginal ultrasound (TVS) in endometrial cancer (EC) to determine local staging, however, without molecular diagnostics, it is insufficient for selection of high-risk cases, i.e., those with a high risk of lymph node metastases (LNM). Methods: One hundred sixteen consecutive EC patients, who had received 2D transvaginal ultrasound examinations in their preoperative workup and final histopathology results as a reference standard, were included in this prospective study. Univariate and multivariate logistic models of analyzed TVS biomarkers (tumor [T] size, T area [AREA], T volume [SPE-VOL], MI, T-free distance to serosa [TFD], endo-myometrial irregularity, [EMIR], cervical stromal involvement, CSI) were evaluated to assess the relative accuracy of the possible LNM predictors. To avoid a potential bias in assuming linear relations between LNM and continuous predictors, spline functions were applied. Calculations were made in R with the use of libraries splines, glmulti, and pROC. Results: LNM was found in 20 out of 116 (17%) patients. In univariate analysis, only uMI, EMIR, uCSI and uTFD were significant predictors of LNM. Accuracy was 0.707 (AUC 0.684, 95% CI 0.568-0.801) for uMI (p50%, and SPE-VOL for patients with uCSI, allows for the most accurate prediction of LNM in EC, rather than uMI alone.

Hemoptysis in pregnancy is a very rare finding causing diagnostic and therapeutic difficulties. The case report of hemoptysis by a 29 years old patient in the 31st week of pregnancy is presented and discussed along with the diagnostic process and treatment provided.Upon pharyngeal cancer occurrence in a pregnant patient a multidisciplinary medical team performed appropriate treatment along with delivery of a healthy newborn at term. Patients and fetal conditions and outcomes were analyzed and compared to available literature in this newly created literature review.After MEDLINE database analysis using formula "hemoptysis" AND "pregnancy" more than 125 results were found published during the period 2002-2022. Almost 30 papers about hemoptysis were found and included for full analysis.The literature review offers a detailed description of previously reported incidents of hemoptysis in pregnancy to gain understanding of the etiology, differential diagnosis, available treatment and predicted future outcomes for both patient and fetus.