Bo-Yon Lee

BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients

PurposeTo evaluate the proportion of Korean ovarian cancer patients with a strong family history and the genetic status in such patients.Methods and patientsPedigree analysis and genetic counseling were performed on 337 ovarian cancer patients in the National Cancer Center Korea between January 2005 and June 2008. Patients with a strong family history were defined as (1) patients with double primary ovarian and breast cancer and (2) ovarian cancer patients with one or more first-degree relatives with breast or ovarian cancer. Lymphocyte specimens from peripheral blood were processed for BRCA1 and BRCA2 by direct sequencing.ResultsSixteen percent (54/337) of patients had a strong family history. Of the 54 patients with a strong family history, 40 patients (74%) accepted the genetic test. Thirteen deleterious mutations (11 in BRCA1 and 2 in BRCA2) were identified (33%). Twenty-three of 283 patients (8%) without a strong family history underwent genetic testing and two deleterious mutations in BRCA1 were identified (9%). Eight of 15 mutations (53%) were novel, and c.1041delAGCinsT and c.2081insC in the BRCA1 gene were recurrent in two patients.ConclusionsThe proportion of Korean ovarian cancer patients with a strong family history was significant, and the prevalence of BRCA1 and BRCA2 mutations in such patients was high.

Hereditary Non-polyposis Colorectal Cancer/Lynch Syndrome in Korean Patients with Endometrial Cancer

OBJECTIVE We investigate the frequency of hereditary non-polyposis colorectal cancer among Korean endometrial cancer patients according to two clinical criteria and the uptake rate of a genetic test and genetic status of such patients in routine clinical practice. METHODS This was a retrospective study involving 161 consecutive endometrial cancer patients. Patients were classified into clinical and suspected hereditary non-polyposis colorectal cancer. Using direct sequencing, germline mutations were analyzed in the MLH1 and MSH2 genes. RESULTS There were four (2.5%) clinical hereditary non-polyposis colorectal cancer patients, three of whom underwent genetic testing, and a mutation (c.882delT) in the MSH2 gene was identified in one patient. There were also 14 (8.7%) suspected hereditary non-polyposis colorectal cancer patients, 6 of whom underwent genetic testing; 1 [1/6 (16.7%)] patient had a mutation (c.1757_1758insC) in the MLH1 gene and 1 patient had a sequence variant of unknown significance (c.1886A < G) in the MSH2 gene. Half of the patients (9 of 18) who met clinical or suspected hereditary non-polyposis colorectal cancer criteria declined genetic testing mainly for the reason of financial factor (8 of 9). CONCLUSIONS The proportion of hereditary non-polyposis colorectal cancer [11.2% (18 of 161)] was significant to offer genetic counseling and genetic testing in Korean endometrial cancer patients. Optimal financial support is crucial to increase the uptake rate of a genetic test.

Clinical manifestations in patients with ovarian clear cell carcinoma with or without co-existing endometriosis

Objectives. The symptoms associated with ovarian cancer are vague. Endometriosis, which causes dysmenorrhea and dyspareunia, is frequently detected along with ovarian clear cell carcinoma (OCCC). We have therefore evaluated the clinical manifestations of OCCC based on the co-existence of endometriosis. Methods. A retrospective analysis was conducted on 43 patients who had been treated for OCCC at the National Cancer Center between June 2000 and July 2007. Using medical records and the cancer registry, the clinical features and laboratory findings were analysed. Results. Endometriosis was identified in 16 (37.2%) of the 43 patients with OCCC. The main presenting symptoms included a hard, palpable mass (32.6%), and newly developed or an exacerbation of dysmenorrhea (32.6%) and dyspareunia (25.6%). Gastrointestinal symptoms, pelvic pain, and abdominal distension existed in nine (20.9%), eight (18.6%) and one (2.3%) of the patients, respectively. The symptoms did not differ statistically in patients with or without endometriosis. Thirty-seven percent (11/30) of the patients had a normal CA-125 level (<35 U/ml); 18.8% (3/16) of the patients without endometriosis and 57% (8/14) of the patients with endometriosis had normal levels of CA-125 (<35 U/ml). Nine of 16 (56.3%) patients with early stage OCCC had a normal CA-125 level. Conclusions. The main presenting symptoms in patients with OCCC include a hard, palpable mass, dysmenorrhea and dyspareunia, irrespective of co-existing endometriosis. A normal CA-125 level has limited value in excluding OCCC, especially in the early stages.

Lower urinary tract injuries diagnosed after hysterectomy: seven-year experience at a cancer hospital.

Aim:  The aim of this study was to determine the incidence, patterns of development and treatment outcomes of lower urinary tract injuries (LUTI) after hysterectomy.

Corticotropin-Releasing Hormone Enhances the Invasiveness and Migration of Ishikawa Cells, Possibly by Increasing Matrix Metalloproteinase-2 and Matrix Metalloproteinase-9

Corticotropin-releasing hormone (CRH), synthesized in the hypothalamus, is also produced at several extrahypothalamic sites and in normal endometrial cells. CRH exerts antiproliferative activity on oestrogen-dependent tumour cell lines (Ishikawa cells and breast cancer cells) via the CRH receptor-1. This study investigated the potential role of CRH as a factor affecting endometrial migration and invasion in Ishikawa cells, and the possible mechanisms involved in this process. Increasing concentrations of CRH (1, 10 and 100 nM) significantly reduced the proliferation of Ishikawa cells but increased the invasiveness these cells compared with the control group. All three concentrations of CRH significantly increased matrix metalloproteinase (MMP)-2 and MMP-9 levels in Ishikawa cells. In conclusion, CRH inhibited the growth of Ishikawa cells but enhanced their invasiveness, possibly by increasing MMP-2 and MMP-9 levels. These findings suggest that CRH might induce invasion and migration by upregulating MMP-2 and MMP-9 in endometrial cancer.

P10.05: Increased nuchal translucency as a sole clue of prenatal diagnosis in a fetus with trisomy 13

Methods: Since October 2002, 150 patients have been included in this study. Ultrasound examination of fetal profile was carried out between 11 and 14 weeks of gestation. All data was obtained with a Voluson 730 GE and Toshiba SSH 140 A. All patients referred to our department have accepted fetal karyotyping. Results: A total of 150 fetuses were included in this study. Of these 07 had chromosomal anomaly. Additionally 04 of these fetuses were detected using the nuchal translucency. The sensitivity was 55.1%, specificity was 81.1%, positive predictive value (PPV) was 12.9% and negative predictive value (NPV) was 97.5%. The association was statistically significant (P = 0.03-Fisher). Conclusions: Our results suggest that majority of chromosomal anomalies can be detected by the assessment of the nuchal translucency.