Purpose: Targeted next-generation sequencing (NGS) panels for solid tumors have been useful in clinical framework for accurate tumor diagnosis and identifying essential molecular aberrations. However, most cancer panels have been designed to address a wide spectrum of pan-cancer models, lacking integral prognostic markers that are highly specific to gliomas. Materials and Methods: To address such challenges, we have developed a glioma-specific NGS panel, termed “GliomaSCAN,” that is capable of capturing single nucleotide variations and insertion/deletion, copy number variation, and selected promoter mutations and structural variations that cover a subset of intron regions in 232 essential glioma-associated genes. We confirmed clinical concordance rate using pairwise comparison of the identified variants from whole exome sequencing (WES), immunohistochemical analysis, and fluorescence in situ hybridization. Results: Our panel demonstrated high sensitivity in detecting potential genomic variants that were present in the standard materials. To ensure the accuracy of our targeted sequencing panel, we compared our targeted panel to WES. The comparison results demonstrated a high correlation. Furthermore, we evaluated clinical utility of our panel in 46 glioma patients to assess the detection capacity of potential actionable mutations. Thirty-two patients harbored at least one recurrent somatic mutation in clinically actionable gene. Conclusion We have established a glioma-specific cancer panel. GliomaSCAN highly excelled in capturing somatic variations in terms of both sensitivity and specificity and provided potential clinical implication in facilitating genome-based clinical trials. Our results could provide conceptual advance towards improving the response of genomically guided molecularly targeted therapy in glioma patients.

OBJECTIVE: The goal of this study was to investigate the relationship between plasma levels of insulin-like growth factors-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and the risk for cervical intraepithelial neoplasia (CIN) and cervical cancer. METHODS: Plasma levels of IGF-1 and IGFBP-3 of 44 cervical cancer patients, 82 CIN patients and 40 neoplasm-free patients were investigated. Then the associations of the plasma levels of IGF-1 and IGFBP-3 with cervical neoplasm or its clinicopathologic parameters were analyzed. RESULTS: The mean IGF-1 concentrations were significantly different among the control, CIN, and cervical cancer groups; the levels were higher in the CIN group compared to the controls. According to the quartile category, the plasma IGF-1 level was significantly higher (p=0.0015) in the CIN group than in the controls. The IGFBP-3 level showed no association between the controls and CIN groups (p=0.842). Although the mean IGF-1/IGFBP-3 molar ratio had borderline significance (p=0.08) among the study population, the quartile comparison showed a significantly higher IGF-1/IGFBP-3 molar ratio in the CIN group compared to the control group (p=0.041). CONCLUSION: Plasma levels of IGF-1 and the IGF-1/IGFBP-3 molar ratio might be useful for the development early detection of cervical lesions and used as an adjuvant diagnostic tool for cervical neoplasia after more larger scale research.
Cervical Intraepithelial Neoplasia ; Female ; Humans ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Molar ; Plasma ; Uterine Cervical Neoplasms

Pseudohypoparathyroidism is a rare disease that is characterized by target cell resistance to the effects of parathyroid hormone and this disease is classified into various types depending on the phenotypic and biochemical findings. The patients with pseudohypoparathyroidism present with the clinical and biochemical features of hypoparathyroidism, but they have an increased serum level of parathyroid hormone. We experienced a case of pseudohypoparathyroidism in a 24 years old woman who had Graves' disease at that time. She had hypocalcemia, hyperphosphatemia, an elevated serum parathyroid hormone level and a normal urinary basal cyclic AMP(adenosine monophosphate) level. She also had a normal phenotypic appearance. Therefore, she was classified as suffering with pseudohypoparathyroidism type II. The clinical and laboratory abnormalities were improved by calcium supplementation in addition to vitamin D. To the best of our knowledge, this is the first case of pseudohypoparathyroidism combined with Graves' disease in Korea.
Calcium ; Female ; Graves Disease ; Humans ; Hyperphosphatemia ; Hyperthyroidism ; Hypocalcemia ; Hypoparathyroidism ; Korea ; Parathyroid Hormone ; Pseudohypoparathyroidism ; Rare Diseases ; Stress, Psychological ; Vitamin D

OBJECTIVE: Uterine leiomyomas are the most common tumor of the uterus. But the molecular causes of uterine leiomyoma remain unclear. We conducted the current investigation in order to elucidate the molecular mechanisms in the development of uterine leiomyoma. METHODS: We employed a new and accurate reverse transcription-polymerase chain reaction (RT-PCR) method that involved annealing control primers (ACPs) to identify the genes that are differently expressed in uterine leiomyoma. RESULTS: Using 120 ACPs, we identified and sequenced 14 differently expressed genes (DEGs) in uterine leiomyoma compared with normal myometrium. Basic Local Alignment Search Tool (BLAST) searches were performed to examine the known functions of these genes associated with uterine leiomyoma. We confirmed differently expressed patterns in more cases using the RT-PCR method. We also detected two novel genes, Tenascin-X and Leukemia Inhibitory Factor Receptor (LIFR), which had not yet been reported to have any functions associated with uterine leiomyoma. RT-PCR confirmation shows that both of these two genes are down-regulated in uterine leiomyoma. CONCLUSION: Our results suggest that Tenascin-X and LIFR may play a role in the development of uterine leiomyoma. Although further studies are required to establish the precise mechanisms with which these genes are involved in the genesis of uterine leiomyoma, the present research is significant in that it is the first study which detects down-regulated novel genes in uterine leiomyoma using the ACP system.
Animals ; Female ; Leiomyoma ; Leukemia ; Leukemia Inhibitory Factor ; Mice ; Myometrium ; Receptors, OSM-LIF ; Tenascin ; Uterus

Paratubal cysts come from paraovarium of the broad ligament between the fallopian tube and ovary. Overall, these cysts constitute 10% of all adnexal masses and are commonly incidental findings upon surgical exploration for other reasons. They more commonly occur in women between 30 and 40 years of age. We report two cases of rapidly growing, huge paratubal cysts in young women, which are presented with brief review of literature.
Broad Ligament ; Fallopian Tubes ; Female ; Humans ; Incidental Findings ; Ovary ; Parovarian Cyst

OBJECTIVE: The aim of this study is as follows; First, to assess knowledge regarding cervical cancer, HPV and the acceptance of HPV vaccination among girls in their late teens in Seoul, Korea. Second, to find out factors affecting the acceptance of HPV vaccination. METHOD: From November to December 2006, we surveyed Ewha Womans University freshmen and third year female students of Keumran High school affiliated with Ewha Womans University. A written questionnaire was sent to 310 students and 275 students responded. The questionnaire was divided into three sections that sought information about the followings : (1) Demographic characteristics; (2) Knowledge regarding cervical Pap smear testing and cervical cancer; (3) Knowledge regarding HPV and HPV vaccines. We scored the questionnaire giving one point for each correct answer. We summed up scores of knowledge on each section and compared the scores according to the acceptance of HPV vaccination in target group. RESULTS: The mean score of knowledge regarding cervical Pap smear testing and cervical cancer, HPV and HPV vaccines were 5.31+/-1.48 and 3.11+/-2.09, respectively. None of the demographic characteristics influenced the acceptance of HPV vaccine. The level of knowledge regarding HPV and HPV vaccines significantly affected the acceptance of HPV vaccine, however, knowledge regarding cervical Pap smear testing and cervical cancer did not. CONCLUSION: This study emphasize the need for further education regarding HPV infection and HPV vaccination for improvement in HPV vaccine acceptance.
Adolescent* ; Education ; Female* ; Humans* ; Korea* ; Papillomavirus Vaccines ; Surveys and Questionnaire ; Seoul ; Uterine Cervical Neoplasms* ; Vaccination*

The anal fibroepithelial polyps are well-known polypoid conditions histologically consisting of connective tissue response resulting from local irritation, which is closely associated with hemorrhoids. As previously reported, the size of the polyps ranged from 3 to 19 mm, average 9 mm. A 60-year-old women was admitted complaining of anal bleeding and constipation. Colonoscopy revealed a 3.0 2.5 cm sized, subpedunculated polyp on the dendate line. We removed the polyp by per anal local excision due to its hard stalk after failure of colonoscopic removal. The histologic examination was showed mature stratified squamous epithelium with hyalinized vascular changes. We report a case of huge and hard anal fibroepithelial polyp with hemorroids misdignosed as cancer.
Anal Canal ; Anus Neoplasms* ; Colonoscopy ; Connective Tissue ; Constipation ; Epithelium ; Female ; Hemorrhage ; Hemorrhoids ; Humans ; Hyalin ; Middle Aged ; Polyps*

Leiomyomas are the most common mesenchymal tumors of the vulva, which have an extremely low incidence. Although these tumors are known a low grade tumor, they have to be removed immediately to prevent further growing and sarcomatous change in the future. We experienced a case of leiomyoma of the vulva, and reported it with a brief review of literatures.
Incidence ; Leiomyoma* ; Vulva*

OBJECTIVE: To evaluate the clinical indications and incidence of emergency peripartum hysterectomy by dermographic characteristics by a retrospective review based on hospital data of 98 patients over 8 years. METHODS: We reviewed their medical records of the 98 cases of peripartum hysterectomy among 50,338 deliveries, from January. 1992 to December. 1999, at St Mary, Kang Nam St Mary, and Holy Family hospital of Catholic University. RESULTS: The total incidence of peripartum hysterectomy was 98/50,338 (0.19%), Cesarean hysterectomy was performed in 96 of 22,561 Cesarean sections (0.43%) and in 2 of 27,777 vaginal deliveries (0.01%). The higher the age, the higher incidence of peripartum hysterectomy was noted and the most common indication for hysterectomy was abnormal adherent placentation (45.48%) followed by uterine atony (39.80%). During peripartum hysterectomy, patients were transfused with mean 10.04 pints. Although one maternal death occurred, maternal morbidity remained high (51.02%), including postoperative febrile condition in 15 (15.3%), intraoperative urologic injury in 11 patients (11.2%). CONCLUSION: There is a strong association between advancing age and incidence of peripartum hysterectomy. The data identify abnormal adherent placentation as the primary cause for peripartum hysterectomy and then considering the mean volume of blood loss more than 10 pints of blood should be prepared before emergency hysterectomy.
Cesarean Section ; Emergencies* ; Female ; Humans ; Hysterectomy* ; Incidence ; Maternal Death ; Medical Records ; Peripartum Period* ; Placentation ; Pregnancy ; Retrospective Studies ; Uterine Inertia

No abstract available.
Animals ; Dopamine* ; Models, Animal* ; Parkinsonian Disorders* ; Rats* ; Receptors, Dopamine*