ABSTRACT
Patients with 46,XY complete gonadal dysgenesis (Swyer syndrome) are characterized by the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. These women have a high risk of developing rare type II malignant germ cell tumors. We report a rare case of a 33-year-old 46,XY female patient, who presented with an adnexal mass suspected for dysgerminoma, with a novel mutation of the sex-determining region on the Y chromosome consisting in the variant c.301C> G (p.L101V). Considering that effective screening is not available and the high risk of developing malignant neoplasm, prophylactic gonadectomy is mandatory.
Subject(s)
Dysgerminoma/genetics , Gonadal Dysgenesis, 46,XY/genetics , Ovarian Neoplasms/genetics , Sex-Determining Region Y Protein/genetics , Adult , Dysgerminoma/complications , Female , Gonadal Dysgenesis, 46,XY/complications , Humans , Mutation , Ovarian Neoplasms/complicationsABSTRACT
The aim of the study was to explore the clinical value of serum human epididymis secretory protein E4 (HE4) and CA125 in endometrial carcinoma. From January 2010 to April 2012, serum specimens were collected from consecutive cases of endometrial carcinoma and from cases of uterus benign disease (control group). The CA125 normal value is considered less than 35 U/mL. Two HE4 cutoff are considered: less than 70 pmol/L and less than 150 pmol/L. The specificity analysis was performed using the Mann-Whitney test for the CA125 and HE4 series. The level of statistical significance is set at p < 0.05. The sensitivity of CA125 in detecting endometrial cancer is 19.8 %, whereas the sensitivity of HE4 is 59.4 and 35.6 % for 70 and 150 pmol/L cutoff, respectively. Thus the specificity of HE4 is 100 % (positive predictive value = 100 %, negative predictive value = 71.52 and 61.31 % considering the two HE4 cutoff, respectively), whereas the CA125 specificity is 62.14 % (positive predictive value = 33.9 %, negative predictive value = 44.14 %) in detection of endometrial cancer. Combining CA125 and HE4, the sensitivity to detect endometrial cancer is 60.4 and 34.6 %, at HE4 cutoff of 70 and 150 pmol/L, respectively, with a specificity of 100 %. HE4 may be a new tool for preoperative evaluation and postoperative surveillance of endometrial cancer patients, with a positive predictive value = 100 %. HE4 at cutoff of 70 pmol/L yields the best sensitivity and specificity.
Subject(s)
CA-125 Antigen/blood , Endometrial Neoplasms/blood , Endometrial Neoplasms/diagnosis , Membrane Proteins/blood , Proteins/analysis , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/analysis , Biomarkers, Tumor/blood , Case-Control Studies , Endometrial Neoplasms/metabolism , Epididymal Secretory Proteins/analysis , Female , Humans , Lymph Nodes/pathology , Middle Aged , Prospective Studies , WAP Four-Disulfide Core Domain Protein 2ABSTRACT
More than two decades have passed since neoadjuvant chemotherapy has been introduced in the clinical practice. After several pilot studies, randomized trials and meta-analysis have confirmed the validity of this therapeutic strategy and in particular of neoadjuvant chemotherapy followed by radical surgery. Several open questions still remain unanswered and in particular no standard drug regiment is unanimously accepted. In this paper we describe how this treatment has evolved since its original introduction in the early eighties and describe possible drug regimens with their supporting evidence that can be adopted by physicians worldwide.
