Ayşe Sertçelik

Sex-specific hormone receptors in urothelial carcinomas of the human urinary bladder: a comparative analysis of clinicopathological features and survival outcomes according to receptor expression.

OBJECTIVES To investigate the expression of sex-specific hormone receptors in normal bladder urothelium and urothelial carcinomas (UCs) of the bladder, and to analyze clinicopathological features and survival outcomes according to receptor expression. METHODS We evaluated the clinical data and tumor specimens of 139 patients with bladder cancer (BC). In addition, 72 samples of normal urothelium were included. Immunohistochemistry was performed using streptavidin-biotin peroxidase method, a monoclonal androgen receptor (AR), and an estrogen receptor-β (ERβ) antibody on paraffin-embedded tissue sections. Expression levels of each receptor were assessed by evaluating 500 tumor cells for each case and the percentage of positively-stained nuclei was recorded. RESULTS None of the 58 male control cases showed any AR and ERβ expression. Five (35, 71%) of the 14 female control cases expressed ERβ. Of the 139 patients with UCs, 71 (51, 07%) expressed AR (62 male vs. 9 female; P = 0.413) and 44 (31, 65%) (39 male vs. 5 female; P = 0.402) showed ERβ expression (P < 0.001). No significant relationship was found between ERβ expression levels and tumor grades, and stages (P = 0.441; P = 0.247). AR expression was significantly lower in T2-tumors (21%) than in Ta-tumors (60%) and T1-tumors (60%) (P < 0.001). It was significantly higher in low-grade papillary UCs (64%) compared with high-grade papillary UCs (44%) and infiltrative high-grade UCs (17%) (P = 0.039; P < 0.001). Data of 79 patients with noninvasive BC were eligible to present, with a median 29 months follow-up. AR expression level did not influence recurrence-free survival (RFS) and progression-free survival (PFS) (P = 0.095; P = 0.110). No significant association was found between ERβ expression level and RFS (P = 0.293). PFS in patients with lower ERβ-expressing tumors was significantly better than that in patients with higher ERβ-expressing tumors (P = 0.035). Multivariate analysis confirmed this significant influence on PFS (P = 0.025). CONCLUSIONS Although ERβ expression had no impact on histopathological tumor characteristics, decrease in its expression may be associated with better PFS rates in patients with noninvasive BC. Conversely, loss of AR expression was associated with higher grade UCs and invasive UCs, but had no prognostic effect on survival. Finally, sex-specific hormone receptors alone cannot be responsible for gender differences in BC rates because they were expressed in similar rates in both sexes.

Vulvar syringoma showing progesterone receptor positivity

A 27 year old woman was seen in our clinic for pruritus vulvae. Physical examination revealed multiple 3-5 mm sized symmetrical skin coloured papules on both labia majora (Fig. 1). The lesions had been present for three years and were pruritic. There were no similar lesions elsewhere in the body. There was no family history of similar lesions. An incisional biopsy was performed under local anaesthesia and the histopathological diagnosis was syringoma (Fig. 2). She was admitted and the lesions on both labia majora were excised totally under local anaesthesia. The skin was closed by subcutaneous mattress sutures with 4/0 prolene. Sutures were removed on the seventh postoperative day. One year later, no scar was seen on the incision site and there was no pruritus. The specimen showing multiple syringoma was further investigated for oestrogen and progesterone receptor positivity by immunohistochemistry, which revealed 70% nuclear progesterone positivity within the eccrine glands of syringoma (Fig. 3). Similarly normal eccrine glands in the deeper dermis showed nuclear progesterone expression (arrow, Fig. 3). There was also some nonspecific cytoplasmic progesterone staining within the lesion.

A case report of multicentric verrucous carcinoma of the female genital tract

BACKGROUND Verrucous carcinoma is a variant of squamous cell carcinoma with distinct features including slow locally invasive growth and verrucous appearance. Verrucous carcinoma of the vagina is considered an extremely rare lesion because only 17 cases have been reported in the literature. CASE We report a case of vaginal verrucous carcinoma with a second focus in the cervix. The patient was treated with surgery and adjuvant interferon therapy for local recurrence. Human papillomavirus was detected in both vaginal and cervical tumor tissue by immunohistochemistry. CONCLUSION Diagnosis of verrucous carcinoma may be difficult, particularly if biopsy specimen involves only the surface epithelium. The role of human papillomavirus as an etiologic agent in verrucous carcinoma is still a matter of discussion. Effective management requires surgical resection. The efficiencies of radiotherapy and interferon therapy are discussed.

A Novel Heterozygous Mutation in Steroidogenic Factor-1 in Pubertal Virilization of a 46,XY Female Adolescent

BACKGROUND Steroidogenic factor-1 (SF-1) gene (NR5A1) mutations cause disorders of sexual development due to gonadal dysgenesis, particularly in 46,XY individuals. In cases exhibiting this mutation, the phenotype is heterogeneous, and it may vary within a spectrum ranging from complete female appearance to an infertile male. Virilization observed in some cases in the pubertal age group may lead to diagnostic difficulties. CASE The present case report describes the clinical, histopathologic, and genetic characteristics of a 46,XY case, who was born with a female phenotype and raised as a girl, presented with findings of virilization in the pubertal period. She had no germ cells and very few Leydig cells with atrophic testis on biopsy and in whom a novel heterozygous mutation in the SF-1 gene (a heterozygous 7-bp deletion mutation in exon 7 [c.1308-1314del7bp] causing frameshift) was identified. SUMMARY AND CONCLUSION Although the gonads are very dysgentic in patient with SF-1 mutations, sufficient androgen synthesis can cause severe virilization during puberty.

Inflammatory Myofibroblastic Tumor of the Bladder in a 10-Year-old Girl

Inflammatory myofibroblastic tumors (IMTs) of the bladder are rarely encountered bladder tumors during the pediatric age. The unknown malignant potential of these tumors causes controversy for their treatment and follow-up. We report a 10-year-old girl who was referred to our clinic with dysuria and enuresis. The clinicopathological evaluation was compatible with IMT and a bladder preserving approach was used. There was no recurrence in the first year of follow-up examinations.

Roles of E-cadherin and cyclooxygenase enzymes in predicting different survival patterns of optimally cytoreduced serous ovarian cancer patients.

The relation between cyclooxygenase enzymes and E-cadherin, along with the roles of these markers in the prediction of survival in optimally cytoreduced serous ovarian cancer patients was investigated. Individuals who underwent primary staging surgery and achieved optimal cytoreduction (largest residual tumor volume<1 cm) constituted the study population. Specimens of 32 cases were immunohistochemically examined for cyclooxygenase-1, cyclooxygenase-2, and E-cadherin. Two could not be evaluated for E-cadherin and cyclooxygenase-1. Overall, 14/30, 19/30, and 15/32 cases were positive for E-cadherin, cyclooxygenase-1, and cyclooxygenase-2, respectively. The expressions of E-cadherin and cyclooxygenase-2 were inversely correlated (p:0.02). E-cadherin expression was related with favorable survival (p<0.001). The relation between the expression of cyclooxygenase enzymes and poor survival did not reach statistical significance. On multivariate analysis, E-cadherin appeared as an independent prognostic factor for survival. In conclusion, E-cadherin expression is strongly linked with favorable survival. E-cadherin and cyclooxygenase 2 may interact with each other during the carcinogenesis-invasion process. Further studies clarifying the relation between E-cadherin and cyclooxygenase enzymes may lead to new preventive and therapeutic targets in ovarian cancer.

Mayer-Rokitansky-Küster-Hauser syndrome accompanied by renal cell carcinoma: a case report.

Mayer-Rokitansky-Küster-Hauser anomaly originates from agenesis of the Müllerian duct including agenesis of the uterus and the vagina because of abnormal development of the uterine ducts. This syndrome may be accompanied by the upper urinary tract anomalies such as unilateral renal agenesis, ectopia of 1 or both kidneys, renal hypoplasia, horseshoe kidney, and hydronephrosis. We report a 16-year-old girl, with unilateral renal agenesis, herniating ovary, and renal cell carcinoma in her solitary kidney, associated with Mayer-Rokitansky-Küster-Hauser syndrome—the first case in the literature to our knowledge.

Ovarian hilus-cell hyperplasia and high serum testosterone in a patient with postmenopausal virilization.

OBJECTIVE To describe a woman with postmenopausal virilization and hirsutism caused by hilus-cell hyperplasia. METHODS We present a case report including laboratory, radiographic, and pathologic findings in a patient with postmenopausal hirsutism and virilization caused by ovarian hilus-cell hyperplasia as well as a brief review of the literature. RESULTS A 60-year-old postmenopausal woman presented with extensive hirsutism, male-pattern hair loss, and clitoromegaly. The patients plasma testosterone levels were very high, but computed tomography showed the adrenal glands to be normal in size. Pelvic ultrasonography revealed a cystic lesion in the left ovary. After bilateral salpingo-oophorectomy, histologic examination demonstrated a diffuse pattern of hilus-cell hyperplasia in the ovarian hilum. CONCLUSION In the differential diagnosis of postmenopausal virilization, hilus-cell hyperplasia, although rare, should be considered.

The association of cystic nephroma with pulmonary sequestration: is it a coincidence or not?

Cystic nephroma (CN) is a rare, presumably benign, multilocular cystic renal tumor. Pulmonary sequestration (PS) also presents as cystic masses of non-functioning primitive lung tissue. We describe a 15-month-old girl with CN and PS. Although some rare associations of renal and pulmonary lesions have been reported, this is the first case report in the English literature that shows the association of CN with PS.

Giant dumbbell-shaped gastroenteric cyst presenting with total situs inversus

We present a case of an 8-month-old boy with total situs inversus, who had a giant dumbbell-shaped gastroenteric cyst. The concurrence of these entities has never been reported previously. The cyst occupied a large space in the mediastinum and involved both hemithoraces.