Two Cases of Pre-descemet Corneal Dystrophy Associated with X-linked Ichthyosis: A Case Report by Genetic Analysis

PURPOSE: To report the first case of steroid sulfatase (STS) gene deletion, confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis in identical twins with pre-Descemet corneal dystrophy associated with X-linked ichthyosis. CASE SUMMARY: 19-year old identical twin brothers with itching senses and hereditary thick scaly skin of the extremity and trunk visited our dermatologic clinic. Upon visiting, an ophthalmologic consultation with anterior segment examination showed diffuse punctate corneal opacities in the pre-Descemet layer. On MLPA analysis of the identical twin brothers, a definitive diagnosis of X-linked ichthyosis was made by identifying STS gene deletion. CONCLUSIONS: Identification of the deletion and mutation of the involved gene using gene analysis can provide insight to diagnosis and clinical characteristics of X-linked ichthyosis.

Induction of Integrin Signaling by Steroid Sulfatase in Human Cervical Cancer Cells

Steroid sulfatase (STS) is an enzyme responsible for the hydrolysis of aryl and alkyl sulfates. STS plays a pivotal role in the regulation of estrogens and androgens that promote the growth of hormone-dependent tumors, such as those of breast or prostate cancer. However, the molecular function of STS in tumor growth is still not clear. To elucidate the role of STS in cancer cell proliferation, we investigated whether STS is able to regulate the integrin signaling pathway. We found that overexpression of STS in HeLa cells increases the protein and mRNA levels of integrin β1 and fibronectin, a ligand of integrin α5β1. Dehydroepiandrosterone (DHEA), one of the main metabolites of STS, also increases mRNA and protein expression of integrin β1 and fibronectin. Further, STS expression and DHEA treatment enhanced phosphorylation of focal adhesion kinase (FAK) at the Tyr 925 residue. Moreover, increased phosphorylation of ERK at Thr 202 and Tyr 204 residues by STS indicates that STS activates the MAPK/ERK pathway. In conclusion, these results suggest that STS expression and DHEA treatment may enhance MAPK/ERK signaling through up-regulation of integrin β1 and activation of FAK.

The Role of Steroid Sulfatase as a Prognostic Factor in Patients with Endometrial Cancer

PURPOSE: The aim of the study was to determine steroid sulfatase (STS) expression in endometrial cancer patients and its correlation with disease prognosis. MATERIALS AND METHODS: We conducted a retrospective study in 59 patients who underwent surgery with histologically confirmed endometrial cancer from January 2000 to December 2011 at Hanyang University Hospital. Immuno-histochemical staining of STS was performed using rabbit polyclonal anti-STS antibody. RESULTS: Sixteen of the 59 patients (27.1%) were positive for STS expression. Disease free survival (DFS) was 129.83±8.67 [95% confidence interval (CI): 112.84-146.82] months in the STS positive group (group A) and 111.06±7.17 (95% CI: 97.01-125.10) months in the STS negative group (group B) (p=0.92). Overall survival (OS) was 129.01±9.38 (95% CI: 110.63-147.38) months and 111.16±7.10 (95% CI: 97.24-125.07) months for the groups A and B, respectively (p=0.45). Univariate analysis revealed that FIGO stage and adjuvant therapy are significantly associated with DFS and OS. However, in multivariate analysis, FIGO stage and adjuvant therapy did not show any statistical significance with DFS and OS. STS was also not significantly associated with DFS and OS in univariate and multivariate analysis. CONCLUSION: STS expression was not significantly associated with DFS and OS, despite positive STS expression in 27% of endometrial cancer patients. Therefore, the role of STS as a prognostic factor in patients with endometrial cancer remains unclear and requires further research.

Expressions of steroid sulfatase in breast cancer tissues and normal breast tissues and its significance / 肿瘤

Objective:To investigate the mRNA and protein expressions of steroid sulfatase (STS) in breast cancer tissues and normal breast tissues, and analyze its relationship with clinicopathologic characteristics. Methods:The mRNA and protein expressions of STS, in 40 cases of breast cancer tissues and corresponding paracancerous normal breast tissues, were examined by reverse transcription-polymerase chain reaction(RT-PCR)and immunohistochemistry. The correlation of STS expression level with clinicopathologic characteristics was analyzed. Results:STS protein was mainly expressed in the cytoplasm of breast carcinoma cells and epithelial cells in normal breast glands, but not in the stroma. It could be detected in the nucleus of carcinoma cells in 3 cases of breast cancer tissues, which was pathologically classified as invasive ductal carcinoma, invasive lobular carcinoma, and invasive micropapillary carcinoma. STS was not observed in interstitial tissues of breast glands. STS protein expression had positive correlation with its mRNA expressing level. The positivity of STS was 70.0% in breast cancer tissues, significantly higher than that of normal breast tissues (42.5%). The difference was significant (P =0.013). Stratified analysis showed that the positive rates of STS protein were significantly higher in premenopausal patients, the patients with lymph node metastasis, and those with advanced breast carcinoma than those in the matched normal breast tissues (P<0.05). Conclusion:Breast cancer tissues highly expressed STS protein to stimulate local estrogen production, thereby enhancing the progression and migration of breast cancer cells. In addition, as the tumor growth, locally biosynthesized estrogens may play more and more important roles.