Uptake of Family-Specific Mutation Genetic Testing Among Relatives of Patients with Ovarian Cancer with BRCA1 or BRCA2 Mutation / Journal of the Korean Cancer Association, 대한암학회지

Purpose@#The BRCA1 or BRCA2 gene is transmitted in an autosomal dominant fashion, and genetic testing of first-degree relatives of patients with family-specific mutation (FSM) is recommended. This study examined factors affecting the uptake of FSM testing among relatives of patients with peritoneal, ovarian, or fallopian tube (POFT) cancer with confirmed BRCA1 or BRCA2 germline mutation. @*Materials and Methods@#Data from medical charts of 392 eligible patients and their relatives who had undergone outpatient genetic counseling/testing were retrospectively reviewed. Clinical factors were compared between family members who had and had not undergone genetic counseling/testing. @*Results@#The uptake of FSM testing was 30.5% (129/423) among first-degree living relatives and 53.5% (69/129) within the overall family unit. The average time from genetic testing of the proband to the first FSM test within a family was 168 days (range, 23 to 681 days). Having a living father (33.8% vs. 13.3%, p=0.007) and daughter (79.4% vs. 60.3%, p=0.019) increased the uptake of FSM testing. FSM testing was more likely among female than among male relatives of cancer patients (40.9% vs. 17.6%, p < 0.001). @*Conclusion@#Approximately one-third of first-degree relatives of patients with a POFT cancer with BRCA1 or BRCA2 mutation underwent FSM testing. Having a living father or daughter was a factor affecting the uptake of FSM testing, which was higher among female than among male relatives of the proband. This discrepancy might be due to a misconception that the BRCA gene is associated with women rather than with men.

Evaluation of satisfaction with three different cervical cancer screening modalities: clinician-collected Pap test vs. HPV test by self-sampling vs. HPV test by urine sampling / 부인종양

OBJECTIVE: Human papillomavirus testing by self-sampling and urine sampling might be alternatives to Papanicolaou test (Pap test) for cervical cancer screening (CCS), and may increase compliance and adherence thereto. The present study aimed to explore satisfaction and preferences for cervical screening modalities among Korean women. METHODS: In total, 732 women aged between 20 and 69 years responded to a questionnaire designed to survey the women's perceived satisfaction for the 3 CCS modalities: clinician-collected Pap test, self-collected vaginal sampling (self-sampling) and urine sampling. RESULTS: Overall satisfaction was significantly higher with both the self-sampling and urine sampling than the clinician-collected Pap test (odds ratio [OR]=2.01; 95% confidence interval [CI]=1.48–3.00 and OR=2.47; 95% CI=1.75–3.48, respectively). Psychological distress, including embarrassment, pain, anxiety, discomfort, and stress, with self-sampling and urine sampling were significantly lower than that with the Pap test. 52% of participants reported preferences for self-sampling in the next screening round. CONCLUSIONS: Korean women were more likely to report satisfaction with alternative modalities (self-sampling and urine sampling) for CCS in comparison to the Pap test. This suggests that self-collected modalities may help with improving CCS uptake rates by eliminating burden related with the Pap test. However, further studies for test accuracy and cost-effective analysis of the alternative modalities should be conducted in order to apply CCS.

Gonadal and Sexual Dysfunction in Childhood Cancer Survivors / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: Few studies have addressed gonadal and sexual dysfunctions in childhood cancer survivors. We evaluated the prevalence rates and risk factors for gonadal failure among adolescent/young adult childhood cancer survivors and their sexual function. MATERIALS AND METHODS: Subjects were childhood cancer survivors aged 15-29 years who had completed therapy more than 2 years ago. Demographic and medical characteristics were obtained from the patients’ medical records. In addition, hormonal evaluation and semen analysis were performed and sexual function was evaluated via questionnaire. RESULTS: The study included 105 survivors (57 males, 48 females), of which 61 were adults (age > 19 years) and 44 were adolescents. In both males and females, the proportion of survivors with low sex hormone levels did not differ among age groups or follow-up period. Thirteen female subjects (27.1%) needed sex hormone replacement, while five males subjects (8.8%) were suspected of having hypogonadism, but none were receiving sex hormone replacement. Of 27 semen samples, 14 showed azospermia or oligospermia. The proportion of normospermia was lower in the high cyclophosphamide equivalent dose (CED) group (CED ≥ 8,000 mg/m2) than the low CED group (27.3% vs. 62.5%, p=0.047). Among adults, none were married and only 10 men (35.7%) and eight women (34.3%) were in a romantic relationship. Though a significant proportion (12.0% of males and 5.3% of females) of adolescent survivors had experienced sexual activity, 13.6% had not experienced sex education. CONCLUSION: The childhood cancer survivors in this study showed a high prevalence of gonadal/sexual dysfunction; accordingly, proper strategies are needed to manage these complications.

Comparison of Quality of Life and Sexuality between Cervical Cancer Survivors and Healthy Women / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: The purpose of this study is to compare quality of life (QoL) and sexual functioning between sexually active cervical cancer survivors and healthy women. MATERIALS AND METHODS: In this cross-sectional study, propensity-score-matched cervical cancer survivors (n=104) and healthy women (n=104) were compared. All women had engaged in sexual activity within the previous 3 months, and cervical cancer survivors showed no evidence of disease after primary treatment. QoL and sexual functioning were assessed using three questionnaires; the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC QLQ-C30), Cervical Cancer Module (EORTC QLQ-CX24), and the Female Sexual Function Index (FSFI). RESULTS: Significantly higher scores for lymphedema were observed in the cervical cancer survivors group compared with the healthy women group (mean, 20.2 vs. 12.2; p < 0.05). Sexuality, both in terms of sexual activity, sexual enjoyment, and sexual worry (EORTC QLQ-CX24), and in terms of desire, arousal, lubrication, orgasm, satisfaction, and pain (FSFI) were similar between the groups. When the scale of sexual/vaginal functioning in EORTC QLQ-CX24 was divided into individual questions, cervical cancer survivors reported shorter vaginal length than the control group, but without statistical significance (mean, 80.6 vs. 85.4; p=0.077). CONCLUSION: Compared with healthy women, sexuality was not impaired in cervical cancer survivors who showed no evidence of disease after primary treatment and engaging in sexual activity. Further prospective cohort studies are warranted to confirm this finding.

Efficacy and oncologic safety of nerve-sparing radical hysterectomy for cervical cancer: a randomized controlled trial / 부인종양

OBJECTIVE: A prospective, randomized controlled trial was conducted to evaluate the efficacy of nerve-sparing radical hysterectomy (NSRH) in preserving bladder function and its oncologic safety in the treatment of cervical cancer. METHODS: From March 2003 to November 2005, 92 patients with cervical cancer stage IA2 to IIA were randomly assigned for surgical treatment with conventional radical hysterectomy (CRH) or NSRH, and 86 patients finally included in the analysis. Adequacy of nerve sparing, radicality, bladder function, and oncologic safety were assessed by quantifying the nerve fibers in the paracervix, measuring the extent of paracervix and harvested lymph nodes (LNs), urodynamic study (UDS) with International Prostate Symptom Score (IPSS), and 10-year disease-free survival (DFS), respectively. RESULTS: There were no differences in clinicopathologic characteristics between two groups. The median number of nerve fiber was 12 (range, 6 to 21) and 30 (range, 17 to 45) in the NSRH and CRH, respectively (p<0.001). The extent of resected paracervix and number of LNs were not different between the two groups. Volume of residual urine and bladder compliance were significantly deteriorated at 12 months after CRH. On the contrary, all parameters of UDS were recovered no later than 3 months after NSRH. Evaluation of the IPSS showed that the frequency of long-term urinary symptom was higher in CRH than in the NSRH group. The median duration before the postvoid residual urine volume became less than 50 mL was 11 days (range, 7 to 26 days) in NSRH group and was 18 days (range, 10 to 85 days) in CRH group (p<0.001). No significant difference was observed in the 10-year DFS between two groups. CONCLUSION: NSRH appears to be effective in preserving bladder function without sacrificing oncologic safety.

Quality of life and sexuality comparison between sexually active ovarian cancer survivors and healthy women / 부인종양

OBJECTIVE: compare quality of life (QoL) and sexual functioning between sexually active ovarian cancer survivors and healthy women. METHODS: A cross-sectional study was performed in 103 successfully treated ovarian cancer survivors and 220 healthy women. All women had engaged in sexual activity within the previous 3 months, and ovarian cancer survivors were under surveillance after primary treatment without evidence of disease. QoL and sexual functioning were assessed using three questionnaires; the European Organization for Research and Treatment of Cancer Quality of Life Questionnaire-Core 30 (EORTC QLQ-C30), Ovarian Cancer Module (EORTC QLQ-OV28), and the Female Sexual Function Index (FSFI). Propensity score matching was used to adjust covariates between the ovarian cancer survivor and healthy women groups. In total, 73 ovarian cancer survivors and 73 healthy women were compared. RESULTS: Poorer social functioning (mean, 82.4 vs. 90.9; p=0.010) and more financial difficulties (mean, 16.4 vs. 7.8; p=0.019) were observed among ovarian cancer survivors than among healthy women. Sexuality, both in terms of desire, arousal, lubrication, orgasm, satisfaction, and pain and in terms of interest in sex, sexual activity, and enjoyment of sex (EORTC QLQ-OV28) were similar between the groups. However, vaginal dryness was more problematic in ovarian cancer survivors, with borderline statistical significance (p=0.081). CONCLUSION: Sexuality was not impaired in ovarian cancer survivors who were without evidence of disease after primary treatment and having sexual activities, compared with healthy women, whereas social functioning and financial status did deteriorate. Prospective cohort studies are needed.

Issues of Compliance in Osteoporosis Medication / 대한골다공증학회지

For the treatment of osteoporosis, patients' compliance for medication is one of important factor for fracture prevention. Though various medications were developed for osteoporosis, still patients' compliance for the medication is low. Clinical implication of treatment compliance in the treatment of osteoporosis and specific characteristics of various medications were reviewed.

Development and Evaluation of Korean Version of Quality of Sexual Function (QSF-K) in Healthy Korean Women

This study was done to develop a Korean version of the Quality of Sexual Function (QSF-K) and evaluate the validity and reliability of the QSF-K. The participants were 220 women who visited the Center for Uterine Cancer at the National Cancer Center in Korea. Participants completed the scale once and then again at a two to four week interval. The QSF-K, Female Sexual Function Index (FSFI) and European Organization for Research and Treatment of Cancer Quality of Life Questionnaire Core 30 (EORTC-QLQ-C30) were used in this study. Receiver operating characteristics (ROC) curve, area under the ROC curve (AUC), intraclass correlation coefficients (ICC), and Cronbach's alpha were analyzed. In the analysis of the reliability, Cronbach's alpha was 0.83 and the ICC was 0.70. The validity measured with the AUC of the QSF-K comparing the FSFI and Global Health/QOL of the EORTC-QLQ-C30 was 0.717 and 0.728, respectively. Specifically, the AUC of the sexual activity level of the QSF-K was 0.838 in the FSFI comparison. The AUC of the psycho-somatic QOL of the QSF-K was 0.758 in the Global Health/QOL of the EORTC-QLQ-C30 comparison. Approximately half of the women (51.8%) had mild complaints/problems. The Korean version of the QSF was developed and validated.

Development and Validation of the Korean Version of the Female Sexual Function Index-6 (FSFI-6K)

PURPOSE: To evaluate the validity and reliability of the Korean version of the Female Sexual Function Index-6 (FSFI-6K). MATERIALS AND METHODS: Participants were recruited from February 2013 to July 2013. The primary survey was conducted for 220 participants, and a follow-up was conducted 3 weeks (+/-1 week) after the primary survey. The FSFI-6K data were analyzed and compared to the reference values in the original FSFI. RESULTS: Of the 220 participants, 199 (90.5%) returned to follow-up, 18 (8.2%) had no further contact, and 3 (1.4%) declined to respond. The internal consistency of the FSFI-6K as measured by Cronbach's alpha was 0.888 and the reliability based on test-retest intraclass correlation was 0.606; these values were acceptable. The cutoff used for diagnosis of female sexual dysfunction by an receiver operating characteristics (ROC) curve was a score of 21; the sensitivity and specificity for this curve are 0.89 and 0.86, respectively. The area under the receiver operating curve was 0.948. CONCLUSION: The FSFI-6K has high internal consistency and acceptable reliability. This validated questionnaire can be used for the Korean population.

The Relationship between Wnt Antagonist Genes Polymorphisms and Changes in Production of Osteoprotegerin and Soluble Receptor Activator of NF-kB by Whole Blood Cells after Hormone Therapy / 대한골다공증학회지

OBJECTIVES: To investigate the relationship between single nucleotide polymorphism (SNP)s in Wnt antagonist genes, and production of osteoprotegerin (OPG) and soluble receptor activator of NF-kappaB ligand (sRANKL) by whole blood cells after hormone therapy (HT) in postmenopausal Korean women. MATERIALS AND METHODS: The Dkk1 c.318A>G, Dkk2 c.437G>A, Dkk3 c.1003A>G polymorphisms and sFRP3 c.970C>G, sFRP4 c.958C>A, and c.1019G>A polymorphisms, and sFRP5 c.20G>C polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), direct sequencing, and Taqman assay in 75 postmenopausal Korean women receiving estrogen-progestogen therapy. The production of OPG and sRANKL by lipopolysaccharide-stimulated whole blood cells (WBC) before and after HT of 6 months were also measured. RESULTS: Changes in the production of OPG and sRANKL by lipopolysaccharide-stimulated WBC, and in ratios of sRANKL(x1,000)/OPG after HT of 6 months were not different according to SNPs in Wnt signal pathway genes except Dkk1 c.318A>G SNP. The AA genotype of Dkk1 c.318A>G SNP showed significantly higher changes (pA, and c.1019G>A polymorphisms after HT. CONCLUSIONS: Dkk1 c.318A>G SNP are related with changes in ratios of sRANKL(x1,000)/OPG in terms of the production of OPG and sRANKL by lipopolysaccharide-stimulated whole blood cells after HT.

Osteoporosis and Osteoporotic Fracture in Premature Menopause / 대한골다공증학회지

Premature menopause is well known risk factor for osteoporosis and fragility fracture. Although its definition is menopause before the age of 40, many studies about the risk of osteoporosis and fragility fracture use diverse definition for it as early menopause. This article is to review the data of the impact of premature or early menopause on bone density and fragility fractures.

The Association of Polymorphisms of Secreted Frizzled Related Protein Genes with Circulating Osteoprotegerin (OPG): Soluble Receptor Activator of NF-kB Ligand (sRANKL) and Bone Mineral Density / 대한골다공증학회지

OBJECTIVES: To investigate the relationship between polymorphisms of secreted frizzled related protein (sFRP) genes, circulating osteoprotegerin (OPG), and soluble receptor activator of NF-kB ligand (sRANKL), and bone mineral density (BMD) in postmenopausal Korean women. METHODS: The sFRP1 c.3132C>T, rs16890444, sFRP2 c.-38C>G, and sFRP5 c.20G>C, and c.34A>T polymorphisms were analyzed by Taqman assay and dierect DNA sequencing in 170 postmenopausal Korean women. Serum CrossLaps (CTX), bone alkaline phosphatase (BAP), OPG, and sRANKL were measured by enzyme linked immunosorbent assay. The BMD at the lumbar spine and femoral neck was determined by dual energy X-ray absorptiometry. RESULTS: The sFRP2 c.-38C>G, and sFRP5 c.34A>T polymorphisms were not observed. No significant differences in adjusted BMD of lumbar spine and femoral neck and in risk for osteoporosis were noted among single genotypes of the sFRP genes polymorphisms measured or haplotype genotypes composed of the sFRP1 c.3132C>T and rs16890444 polymorphisms. No statistical significances in serum levels of bone chemical markers except BAP were observed according to single or haplotype genotypes. Serum BAP was significantly higher in women with the GG genotype than those in women with the GC genotype of the sFRP5 c.20G>C polymorphism. CONCLUSIONS: The sFRP1 c.3132C>T, rs16890444 and sFRP5 c.20G>C polymorphisms do not affect BMD at the lumbar spine and femoral neck in postmenopausal Korean women.

ERRATUM: Role of high risk-human papilloma virus test in the follow-up of patients who underwent conization of the cervix for cervical intraepithelial neoplasia / 부인종양

No abstract available.

Role of high risk-human papilloma virus test in the follow-up of patients who underwent conization of the cervix for cervical intraepithelial neoplasia / 부인종양

OBJECTIVE: To examine whether the presence of high risk-human papilloma virus (HR-HPV) after conization of the cervix was a risk factor for persistence or recurrence of cervical intraepithelial neoplasia (CIN) and whether HR-HPV test could be a guideline for post-therapy surveillance. METHODS: The study retrospectively analyzed data from 243 patients who underwent LLETZ or CKC of the cervix due to CIN. RESULTS: A positive HR-HPV test result which was performed between 3 and 6 months after procedure was a risk factor for persistent or recurrent cytological (p<0.001, odds ratio [OR]=22.51, 95% confidence interval [CI]=9.74-52.02) and pathological (p<0.001, OR=18.28, 95% CI=5.55-60.20) abnormalities. CONCLUSION: HR-HPV positive patients between 3 and 6 months after procedure should undergo frequent and meticulous post-therapy surveillance, while HR-HPV negative patients do not require such high-level surveillance and could undergo routine surveillance.

Inguinal endometriosis connected to intraperitoneal round ligament: Complete excision with extraperitoneal wide dissection / 대한산부인과학회지

Inguinal endometriosis is a rare gynecologic disease. A 43-year-old woman had felt small nodular mass, which causing cyclic groin pain and fluctuation with menstrual cycle. CT scan revealed the extraperitoneal inguinal mass connected to the left round ligament. During the operation, infiltrative fibrotic mass around the inguinal mass could only be excised with wide groin dissection. After dissection of the abdominal muscles, the intraperitoneal mass could be pulled out and excised at the level of the intact round ligament. Histological diagnosis at the excised mass was endometriosis. After the surgery, the pain disappeared completely. We have reviewed published articles concerning inguinal endometriosis. The mechanism of development of inguinal endometriosis seems to be to that of indirect hernia with a difference of disappearing hernia sac resulting from inflammation of endometriosis. About half of the patients revealed periodicity such as cyclic pain or fluctuation of pain with menstral cycle. We describe the complete surgical excision of extraperitoneal inguinal endometriosis connected to round ligament endometriosis. Successful treatment can be achieved with understanding of the pathophysiology and anatomy related to the inguinal endometriosis.

A Clinical Significance of Emergency Cerclage for Patients with Advanced Painless Cervical Dilatation / 대한산부인과학회지

OBJECTIVE: To assess the clinical significance of emergency cerclage in the patients with advenced painless cervical dilatation. METHODS: We performed the analysis of the pregnancy outcomes of the 14 patients who underwent emergency cerclage between January 1990 and December 2001 at Seoul National University Hospital. Only singleton pregnancies were included. We compared these results with those of the 56 patients who underwent elective cerclage in the same period. RESULTS: In the patients with emergency cerclage, mean gestational age at cerclage was 20.71 +/- 3.24 weeks and mean gestational age at delivery was 29.84 +/- 7.40 weeks. The mean cerclage-to-delivery interval was 9.14 +/- 7.53 weeks and overall perinatal survival rate was 63.4%. After cerclage, rupture of membrane occurred in 2 cases (14.3%), preterm labor developed in 8 cases (57.1%) and slipping out of cerclage suture developed in 3 cases (21.4%). In comparison with elective cerclage, mean gestational age at delivery, interval between cerclage and delivery, Apgar scores at birth, perinatal death, preterm delivery rate before 28 and 32 weeks' gestation and neonatal birth weight showed worse outcome in emergency cerclage group than elective cerclage group. CONCLUSION: Although emergency cerclage shows worse outcomes than elective cerclage, it seems to be optional treatment modality for patients with painless cervical dilatation considering pregnancy prdongation and neonatal survival.

A Case of Pregnancy in Patient with Pulmonary Lymphangioleiomyomatosis / 대한산부인과학회잡지

Pulmonary lymphangioleiomyomatosis is a rare disorder of unknown cause and characterised by hamartomatous proliferation of smooth muscle occurring in women of reproductive age exclusively. It causes dyspnea, recurrent pneumothorax, chylothorax, hemoptysis and respiratory failure eventually. Chest radiographs show diffuse interstitial infiltrates and cysts of uniform size, and pulmonary function tests often show airflow limitation with increase in residual volume. Hormonal factors are thought to play a role because it generally affects premenopausal women, but there is no definite treatment yet. We present an unusual case of pulmonary lymphangioleiomyomatosis during normal pregnancy with a review of literature.

Correlation between High Risk Human Papillomavirus Infection and p53 Protein Overexpression in Adenocarcinoma of Cervix / 대한산부인과학회잡지

OBJECTIVE: The aim of the present study was to analyze the relation between p53 mutation and cervical adenocarcinoma without HPV infection. METHODS: From 1998 to 2002, 54 patients were diagnosed with cervical adenocarcinoma and underwent radical hysterectomy at Seoul National University Hospital. Of them, 50 patients were available for review of medical records and histologic examination. Using ABC method, we performed immunohistochemical staining. If there is 10% or more of staining positive, it was read positive. And we used HPVDNAChip for detection of HPV. RESULTS: Of the 50 patients, 45 (90.0%) patients were positive for high risk HPV and 4 patients (8.0%) were p53 positive. In the patients with negative for p53, there were significantly more patient with HPV positive (p=0.04). Advanced stage of cervical adenocarcinoma was related to high rate of positivity of p53, but it was not statistically significant. CONCLUSION: In patients who diagnosed cervical adenocarcinoma without HPV infection, there were over expression of p53. This suggests that abnormality of p53 may be related to pathogenisis of cervical adenocarcinoma without HPV infection.