A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.

BACKGROUND: Endometrial cancer is often the sentinel cancer in women with Lynch syndrome, among which endometrioid endometrial cancer is the most common. We found a Korean case of uterine carcinosarcoma associated with Lynch syndrome. And we reviewed 27 Korean women with endometrial cancer associated with Lynch syndrome already released in case report so far. CASE PRESENTATION: The proband, a 45-year-old Korean woman received treatment for endometrioid adenocarcinoma. Her older sister and niece were treated for endometrioid adenocarcinoma and carcinosarcoma, respectively. Family history met the Amsterdam II criteria and immunohistochemical analysis revealed a loss of MLH1 and PMS2. They all harbored a previously unreported germline likely pathogenic variant in c.1367delC in MLH1. They underwent staging operations including total hysterectomy, bilateral salpingo-oophorectomy, pelvic/paraaortic lymph node dissection, and washing cytology. All three women were healthy without evidence of relapse for over 4 years. CONCLUSION: This report indicates a novel germline c.1367delC variant in MLH1, and presents a Korean case of uterine carcinosarcoma associated with Lynch syndrome. Furthermore, the c.1757_1758insC variant in MLH1 was suggested as a founder mutation in Lynch syndrome in Korean women.

Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy.

OBJECTIVE: To prove the efficacy of determining the abnormal fetal cardiac axis for screening congenital heart defects (CHDs) and predicting fetal aneuploidy at 11.0 to 13.6 weeks of pregnancy. METHODS: This retrospective study was performed at a single high-risk pregnancy center. The fetal cardiac axis was evaluated between 11.0 and 13.6 weeks of gestation in 142 fetuses. The cardiac axis in a 4-chamber view was measured as the angle between the line tracing the long axis of the heart and the line bisecting the thorax in the anteroposterior direction. A CHD was confirmed based on the second- to third-trimester fetal status or postnatal imaging. Aneuploidy was diagnosed using chorionic villus sampling, amniocentesis, or genetic testing after birth. Fisher's exact test was performed to assess the association between the fetal cardiac axis and the abnormal fetal status. A 2-way contingence table analysis was performed to confirm the efficacy of the fetal cardiac axis as a screening tool. RESULTS: Among the 142 fetuses, 10 had a CHD while 17 had aneuploidy. The abnormal fetal cardiac axis was significantly associated with CHDs (P=0.013) and aneuploidy (P=0.010). None of the fetuses with CHDs or aneuploidy had an isolated abnormal cardiac axis alone without other sonographic findings. The sensitivity of the fetal cardiac axis was 50.0% for CHDs and 41.2% for aneuploidy. CONCLUSION: The fetal cardiac axis can be an additional helpful tool for prenatal screening of CHDs and aneuploidy in the first trimester.

The effect of visceral fat on the hemodilution effect of serum carcinoembryonic antigen in Korean population.

OBJECTIVE: To investigate the relationship between visceral fat and the hemodilution effect of carcinoembryonic antigen in both sexes. METHODS: A total of 15,340 females and 20,024 males who visited the health promotion center at Chung-Ang University Hospital from 2011 to 2014 were retrospectively collected. Correlation analysis and chi-square test for linear by linear association were used to determine the correlation between carcinoembryonic antigen concentration, carcinoembryonic antigen mass and visceral fat. Multivariable linear regression analysis was used to calculate the mean of carcinoembryonic antigen concentration and the mean of carcinoembryonic antigen mass, reflecting age, aspartate aminotransferase, alanine aminotransferase, creatinine, body fat percentage, body mass index, lean body mass and waist circumference as confounding variables. RESULTS: Higher body mass index was related with lower carcinoembryonic antigen concentration in men (r = -0.019, P = 0.019), but higher carcinoembryonic antigen concentration in women (r = 0.084, P<0.001). Average of waist circumference for male is greater than that of female (P<0.01). Average of body fat percentage for male is lesser than that of female (P<0.01). Male lean body mass mean is larger than that of women (P<0.01). Increased waist circumference was significantly associated with higher carcinoembryonic antigen mass in both female and male (P<0.001 for trend). Postmenopausal women might be more likely to have increased carcinoembryonic antigen mass and carcinoembryonic antigen concentration (P<0.001 for trend). CONCLUSIONS: This study suggests that visceral fat may increase total amount of CEA in the body. Visceral fat should be taken into account when evaluating serum CEA levels in both sexes.

Hybrid Laparoendoscopic Single-Site Surgery Using a 2-mm Mini-Laparoscopic Instrument versus Conventional Three-Port Laparoscopy for Gynecologic Adnexal Diseases: A Prospective Randomized Trial.

BACKGROUND: Despite the advantages of laparoendoscopic single-site surgery (LESS), it has certain limitations that include longer surgical time, larger incision, and instrument collision. OBJECTIVE: To overcome these limitations, we incorporated a suprapubic 2-mm needle forceps into our hybridized LESS (hLESS) and evaluated its efficacy for benign adnexal disease in comparison with three-port laparoscopy (TPL). METHODS: This prospective study included 61 women randomly assigned in a 1:1 ratio. Incisions of 12 and 2 mm were made, respectively, at the umbilicus and suprapubic areas for hLESS. The length of surgery was compared. Postoperative pain was evaluated using a visual analog scale score, and consumption of analgesics. Cosmetic outcomes were assessed using a modified Vancouver Scar Scale and a body image questionnaire. RESULTS: The length of surgery was found to be similar. The pain score 2-h postoperatively was significantly less in the hLESS group. The scar impact from the hLESS was significantly more favorable compared to that from the TPL. The patients in the hLESS group had a significantly better perception of their body image. CONCLUSION: Despite the reduced umbilical incision size and the absence of specialized instruments required in LESS, the hLESS revealed a similar surgical time, lower postoperative pain, and a better cosmetic outcome compared to TPL.