A sex cord tumor with annnular tubules is a relatively rare ovarian neoplasm. The cytologic findings from a fine needle aspiration biopsy of neck metastasis of a sex cord tumor with annnular tubules are described. The origin of the neck metastasis was the right ovary, and the tumor was diagnosed six years ago. The cytologic findings were characterized by tumor cells arranged in solid or follicular patterns. The tumor cells formed rosette-like or complex tubular structures with central rounded or coalesced hyaline materials. It was difficult to distinguish this tumor cytologically from granulosa cell tumor, thyroid follicular neoplasm, Sertoli-Leydig cell tumor, and Brenner tumor, but complex tubular structures were helpful in discriminating between these tumors.
Biopsy ; Biopsy, Fine-Needle* ; Brenner Tumor ; Female ; Granulosa Cell Tumor ; Hyalin ; Neck* ; Neoplasm Metastasis ; Ovarian Neoplasms ; Ovary ; Sertoli-Leydig Cell Tumor ; Thyroid Gland

Reported is a case of a 43 year-old Gravida 3 Para 3 (3003) admitted due to progressive abdominal enlargement, weight loss and dyspnea. Admitting Impression was Ovarian New Growth, bilateral, malignant, with secondary Pleural Effusion. She underwent Total Abdominal Hysterectomy, with Bilateral Salpingooophorectomy, bilateral lymph node dissection, peritoneal fluid cytology, and infracolic omentectomy. Histopathology report showed a Malignant Mixed Mullerian Tumor of both ovaries with metastasis to the colorectal serosa. It is noteworthy that the patient has two siblings who succumbed to advanced stage ovarian cancer. This case report will discuss the possible hereditary genetic mutations involved in the development of familialovarian carcinoma.

Hereditary breast and ovarian cancer syndrome accounts for approximately 5% to 10% of breast or ovarian cancers, with which the high-penetrant BRCA1/2 genes have been associated. With the recent development of next-generation sequencing (NGS), germline mutation testing and its related medical and surgical management have been rapidly changing. In this review, we summarize the current status and perspectives of NGS testing for not only BRCA1/2 but also the other breast and ovarian cancer susceptibility genes.
Breast ; Breast Neoplasms ; Genetic Testing* ; Germ-Line Mutation ; Hereditary Breast and Ovarian Cancer Syndrome* ; High-Throughput Nucleotide Sequencing ; Ovarian Neoplasms

PURPOSE: The awareness of hereditary breast and ovarian cancer (HBOC) and BRCA testing is increasing in Korea. Compared to the sizable research on HBOC knowledge among breast cancer women, studies in the ovarian cancer population are limited. This paper aimed to investigate the level of knowledge of hereditary ovarian cancer and anxiety in women diagnosed with serous ovarian cancer in Korea and determine differences in the knowledge and anxiety according to whether genetic testing was undertaken and whether BRCA1 or BRCA2 mutations were present.METHODS: Using a descriptive research design, a cross-sectional survey was conducted on 100 women diagnosed with serous ovarian cancer at N hospital in Gyeonggi-do, Korea, from July to November 2018. The collected data were analyzed by descriptive statistics, independent t-tests, one-way analysis of variance, and Pearson's correlation coefficient using the SPSS 21.0 program.RESULTS: The hereditary ovarian cancer-related knowledge score was mid-level (mean score 8.90±3.29 out of a total of 17), as was the state anxiety level was mid-level (mean score 47.96±3.26 out of possible score range of 20–80). Genetic knowledge of hereditary ovarian cancer was associated with age, education, occupation, genetic counseling, and BRCA mutations. There were no statistically significant factors related to anxiety and there were no statistically significant correlations between knowledge level and anxiety.CONCLUSION: More comprehensive education on gene-related cancer is needed for ovarian cancer patients, especially for items with low knowledge scores. A genetic counseling protocol should be developed to allow more patients to alleviate their anxiety through genetic counseling.
Anxiety ; Breast ; Breast Neoplasms ; Cross-Sectional Studies ; Education ; Female ; Genetic Counseling ; Genetic Testing ; Gyeonggi-do ; Hereditary Breast and Ovarian Cancer Syndrome ; Humans ; Korea ; Occupations ; Ovarian Neoplasms ; Research Design

Female ; Humans ; Uterine Neoplasms/pathology* ; Carcinoma, Endometrioid/pathology* ; Endometrial Neoplasms/pathology* ; Ovarian Neoplasms/pathology*

OBJECTIVE: To evaluate the clinical and pathologic characteristics of patients who were diagnosed with ovarian Sertoli-Leydig cell tumors (SLCTs) in a single institution. METHODS: The medical records of 11 patients who were pathologically diagnosed with SLCTs beginning in 1995 in a single institute was reviewed. RESULTS: The median patient age was 31 years (range, 16 to 70 years). Patient International Federation of Gynecology and Obstetrics stages were IA, IC, and IIB in 3 (27.3%), 6 (54.5%), and 2 (18.2%) patients, respectively. Six patients (54.5%) had grade 3 tumors, 3 patients (27.3%) had grade 2 tumors, and 1 patient (9.1%) had a grade 1 tumor. Four patients without children underwent fertility-sparing surgery, and 7 patients had full staging surgery, including a hysterectomy and bilateral salpingo-oophorectomy, with a laparoscopic approach used in 3. Eight patients underwent pelvic lymph node dissection, and 8 patients were administered adjuvant chemotherapy consisting of bleomycin, etoposide, and cisplatin in 6 cases, a modified bleomycin, etoposide, and cisplatin regimen in 1 case, and a combined paclitaxel and cisplatin regimen in 1 case. Two patients died of disease and were re-diagnosed with Sertoli form endometrioid carcinoma. The other patients remain alive without recurrence at the time of reporting. CONCLUSION: Our findings suggest that regardless of tumor stage or grade, ovarian SLCT patients have a good prognosis. Close observation and unilateral salpingo-oophorectomy would be beneficial for women who still wish to have children, while hysterectomy and bilateral salpingo-oophorectomy with adjuvant chemotherapy would be the optimal treatment in other cases. Furthermore, meticulous pathologic diagnosis is needed to develop a precise treatment strategy.
Bleomycin ; Carcinoma, Endometrioid ; Chemotherapy, Adjuvant ; Child ; Cisplatin ; Diagnosis ; Drug Therapy ; Etoposide ; Female ; Gynecology ; Humans ; Hysterectomy ; Lymph Node Excision ; Medical Records ; Obstetrics ; Ovarian Neoplasms ; Paclitaxel ; Prognosis ; Recurrence ; Sertoli-Leydig Cell Tumor*

Meigs' syndrome is defined by the presence of ascites and hydrothorax in association with an ovarian fibroma, which spontaneously resolve soon after the removal of the tumor. Pseudo-Meigs' syndrome refers to the same clinical features associated with other ovarian tumors; thecoma, granulosa cell tumor, Brenner tumor, struma ovarii, etc. Elevated serum CA 125 levels have a strong correlation with ovarian malignancy, but several benign ovarian tumors have been found to cause a rise in CA 125 levels. We present a case of Pseudo-Meigs' syndrome with an elevated CA 125 resulting from thecoma with a brief review of the literatures.
Ascites ; Brenner Tumor ; Female ; Fibroma ; Granulosa Cell Tumor ; Hydrothorax ; Meigs Syndrome ; Struma Ovarii ; Thecoma

PURPOSE: The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation. MATERIALS AND METHODS: Overall, 235 Korean patientswith BRCA1/2 mutation-negative high-risk breast cancerwere screened for BRIP1 mutations. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. In silico analysis of BRIP1 variants was performed using PolyPhen-2 and SIFT. RESULTS: A total of 20 sequence alterations including 12 exonic and eight intronic variantswere found. Among the 12 exonic variants, 10 were missense and two were silent mutations. No protein-truncating mutation was found among the tested patients. Among the 10 missense variants, four (p.L263F, p.L340F, p.L474P, and p.R848H) were predicted to be pathogenic by both PolyPhen-2 and SIFT, and these variants were found in five patients. Of the four missense variants, p.L263F, p.L474P, and p.R848H localize to regions between the helicase motifs, while p.L340F resides in an iron-sulfur domain of BRIP1. CONCLUSION: No protein-truncating mutation in BRIP1 was found among the tested patients. The contribution of BRIP1 variants is thought to be minor in Korean non-BRCA1/2 high-risk breast cancer.
Breast Neoplasms* ; Breast* ; Computer Simulation ; Electrophoresis ; Exons ; Genetic Variation ; Hereditary Breast and Ovarian Cancer Syndrome ; Humans ; Introns ; Korea ; Silent Mutation

PURPOSE: The purpose of the study was to understand the levels of knowledge about hereditary breast cancer and anxiety among patients with breast cancer and to identify the relationship between knowledge and anxiety. METHODS: The data were collected from 100 patients with breast cancer in Seoul in 2013. A 15-item hereditary breast cancer knowledge questionnaire and 20-item anxiety state questionnaire were used to measure knowledge and anxiety, respectively. The data were analyzed using descriptive statistics, t-tests, one-way ANOVA, LSD post hoc tests, and Cronbach's α tests in SPSS/WIN 21.0. RESULTS: The mean score of knowledge was 8.34±3.17, indicating 0.56 when converted to 1. Knowledge was different by age, education, marital status, monthly family income, risk for hereditary breast cancer, and needs for genetic counseling. The mean score of anxiety was 46.05±10.53. There was positive correlation between knowledge and anxiety (r=.25, p=.014). CONCLUSION: The results of this study indicate that oncology professionals need to provide genetic knowledge for early detection and prevention of secondary cancer to patients with breast cancer, while considering and relieving their emotional distress, such as anxiety.
Anxiety* ; Breast Neoplasms* ; Breast* ; Education ; Genetic Counseling ; Hereditary Breast and Ovarian Cancer Syndrome ; Humans ; Lysergic Acid Diethylamide ; Marital Status ; Seoul

OBJECTIVE: We were trying to identify the expression of Wnt 1 and beta-catenin in normal ovarian epithelium and epithelial ovarian tumor. METHODS: We used archival formalin-fixed and paraffin-embedded tissues from Comprehensive Gynecologic Cancer Center and the Department of Pathology at Bundang CHA Hospital from 2000 to 2005. Immunohistochemical staining for Wnt 1 and beta-catenin was performed on the ovarian epithelial tissues. Statistical analyses were performed with SPSS 10.1 for Windows and significance was defined as P<0.05. RESULTS: Of 114 cases, the cases were composed of 54 carcinomas, 40 borderline tumors, 12 benign tumors and 8 normal control ovarian tissues. Abnormal nucleocytoplasmic expression of beta-catenin was found in 4 endometrioid carcinomas. The nuclear expression of beta-catenin was found especially in the components of the endometrioid carcinoma (28.6%, P<0.05). Wnt 1 was overexpressed in all 9 clear cell carcinomas, but not frequent in the other types of malignant tumors (P<0.05). We found a statistically significant correlation between beta-catenin nuclear localization and endometrioid carcinomas. And we found a significant correlation between Wnt 1 expression and clear cell carcinomas. CONCLUSION: It does not seem that Wnt 1 over expression directly provoke the nuclear localization of beta-catenin. But, deregulation of beta-catenin and Wnt 1 may play a role in the pathogenesis of ovarian epithelial carcinogenesis of endometriod carcinoma and clear cell carcinoma. Evaluating this avenue of regulation of beta-catenin and Wnt protein in ovarian epithelial carcinoma may provide a new direction for early diagnosis and treatment in ovarian epithelial carcinoma and provide opportunities for making a certain biomarkers.
beta Catenin ; Carcinoma, Endometrioid ; Early Diagnosis ; Epithelium ; Neoplasms, Glandular and Epithelial ; Ovarian Neoplasms