To investigate serum 25-hydroxyl vitamin D (25(OH)D) and vitamin D-binding protein (VDBP) concentrations in women with endometriosis according to the severity of disease. Women with mild endometriosis (n = 9) and advanced endometriosis (n = 7), as well as healthy controls (n = 16), were enrolled in this observational study. Serum total 25(OH)D concentrations were analyzed using the Elecsys vitamin D total kit with the Cobas e602 module. Concentrations of bioavailable and free 25(OH)D were calculated. Concentrations of VDBP were measured using the Human Vitamin D BP Quantikine ELISA kit. Variables were tested for normality and homoscedasticity using the Shapiro-Wilk test and Leven F test, respectively. Correlation analysis was used to identify the variables related to total 25(OH)D and VDBP levels. To assess the effects of total 25(OH)D and VDBP levels in the three groups, multivariate generalized additive modeling (GAM) was performed. Gravidity and parity were significantly different across the three groups. Erythrocyte sedimentation rate (ESR) and CA-125 levels increased as a function of endometriosis severity, respectively (p= 0.051, p= 0.004). The correlation analysis showed that total 25(OH)D levels were positively correlated with gravidity (r = 0.59, p< 0.001) and parity (r = 0.51, p< 0.003). Multivariate GAM showed no significant relationship of total 25(OH)D levels with EMT severity after adjusting for gravidity and ESR. However, the coefficient of total 25(OH)D levels with gravidity was significant (1.87; 95% confidence interval, 0.12-3.63; p= 0.040). These results indicate that vitamin D and VDBP levels were not associated with the severity of endometriosis.

Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. We prospectively enrolled women with endometriosis (n = 16) and healthy controls (n = 16). Total serum 25-hydroxyl vitamin D (25(OH)D) concentrations were measured using an Elecsys vitamin D total kit. Levels of bioavailable and free 25(OH)D were calculated. Concentrations of VDBP were measured using a vitamin D BP Quantikine ELISA kit. DNA was extracted using a DNeasy blood & tissue kit. Two singlenucleotide polymorphisms (SNPs; rs4588 and rs7041) in GC, the gene that codes for VDBP, were analyzed using a TaqMan SNP genotyping assay kit. The functional variant of VDBP was determined based on the results of the two SNPs. Gravidity and parity were significantly lower in the endometriosis patients than in the control group, but serum CA-125 levels and the erythrocyte sedimentation rate were significantly higher. Total serum 25(OH)D levels in the endometriosis patients were significantly lower than in the control group. However, serum bioavailable 25(OH)D, free 25(OH)D, and VDBP levels did not differ significantly between the endometriosis and control groups. The genotypes and allele frequencies of GC were similar in both groups. Korean women with endometriosis had lower total serum 25(OH)D concentrations than controls. Neither serum VDBP concentrations nor polymorphisms in the gene coding for VDBP were associated with endometriosis. Further studies are needed to investigate the pathophysiology and clinical implications of 25(OH)D and VDBP in endometriosis.

Background: Hypoxia-regulated proteins (HIF-1α and GLUT-1) have been identified as prognostic markers in various cancers; however, their role in endometrial cancer remains unclear. This study aimed to evaluate HIF-1α and GLUT-1 expression in endometrial cancer and correlate their expression with clinicopathological features. Materials and Methods: A tissue microarray (TMA) was constructed using specimens from a retrospective cohort of 51 endometrial cancer patients who underwent hysterectomy at the Gyeongsang National University Hospital between 2002 and 2009. Clinicopathologic data were collected from electronic medical records, and HIF-1α and GLUT-1 expressions were assessed in the tumor tissue. Results: GLUT-1 expression in endometrial cancer was categorized as mosaic, central, or diffuse. Most patients (56.0%) exhibited a central pattern, followed by diffuse (32.0%) and mosaic (12.0%) patterns. GLUT-1 expression was not significantly associated with histologic grade (p = 0.365). HIF-1α expression in immune cells, but not tumor cells, was significantly associated with a higher histologic grade. A higher proportion of HIF-1α-positive immune cells, using both thresholds (≤1% vs. >1% and ≤5% vs. >5%), was significantly associated with higher histologic grade (p = 0.032 and p = 0.048, respectively). In addition, a higher proportion of HIF-1α-positive immune cells was significantly associated with a diffuse GLUT-1 expression pattern using >5% as a threshold. There were no significant differences in the proportion of HIF-1α-positive immune cells between groups stratified by age, tumor size, or invasion depth, regardless of whether the 1% or 5% threshold for HIF-1α positivity was used. Conclusions: A higher proportion of HIF-1α-positive immune cells is associated with endometrial cancers with higher histologic grade and diffuse GLUT1 expression patterns. These findings suggest a potential role for HIF-1α as a prognostic marker and highlight the need for further studies into the role of HIF-1α in the tumor microenvironment.

Angiomyofibroblastoma (AMFB) is an exceedingly rare mesenchymal tumor of the lower genital tract. AMFB primarily affects the pelviperineal region, especially the vulvar in premenopausal women. Typically, AMFB is a benign disease and does not have the potential for metastasis or recurrence, requiring complete surgical excision. Its accurate differentiation from aggressive angiomyxoma is critical due to varying prognoses. A 51-year-old woman, diagnosed with mucinous carcinoma of the breast, presented with a 12 cm abdominopelvic mass identified during breast cancer staging. Imaging suggested an ovarian origin; however, surgical exploration revealed a stalk-attached cystic mass in the anterior body of the uterus. Histopathology confirmed AMFB. Immunohistochemical analysis showed positivity for estrogen and progesterone receptors and smooth muscle actin. The patient continued breast cancer treatment postoperatively without pelvic mass recurrence or complications for a postoperative follow-up period of one year. This case highlights AMFB’s potential uterine body origin, expending known tumor sites and complicating diagnosis due to overlapping features with other mesenchymal tumors. Accurate diagnosis using immunohistochemical markers and pathological features is essential to avoid unnecessary aggressive treatments. The uterine location in this case suggests a possible shared pathogenesis with uterine myomas, warranting further research into their connection. Reporting the first case of AMFB originating in the uterine body enhances understanding of this rare condition and underscores the importance of clinical awareness and precise diagnostic strategies to guide management and improve outcomes.

Hyen Chul Jo, Ji Kwon Park, Jong Chul Baek, Ji Eun Park, Min Young Kang, and In Ae Cho. J Genet Med 2019;16:10-4. https://doi.org/10.5734/JGM.2019.16.1.10

Vitamin D deficiency is common during pregnancy and may cause complications such as preterm labor (PTL). This study was aimed to investigate the effect of the vitamin D-binding protein (VDBP) rs704...