A large and metastatic primitive neuroectodermal tumor of the kidney.

Primitive neuroectodermal tumor (PNET) of the kidney is rare. Mostly patients with renal PNET are young adults and the survival rates are poor. Although radiological and pathological investigations, differential diagnosis from other kidney tumours is very difficult. The treatment is often delayed because of difficulties with diagnosis. In most cases of renal PNET, as in this case, prognosis is poor. Particularly, in young adults with large renal masses, it must be diagnosed and treatment should be started immediately.

Clinical and histopathologic predictors of reoperation due to recurrence of leiomyoma after laparotomic myomectomy.

OBJECTIVE: To assess clinical and histopathologic risk factors for reoperation after laparotomic myomectomy due to leiomyoma recurrence. METHODS: A case-control study was conducted of patients who underwent their first myomectomy for leiomyoma without receiving gonadotropin-releasing hormone analogues at Ankara University School of Medicine, Ankara, Turkey, between January 2000 and December 2004. Medical records and histopathologic samples were reviewed, and participants completed a telephone interview. Patients in the case group had undergone reoperation within 5 years; those in the control group had not required further surgery. RESULTS: There were 51 patients in the case group and 61 controls. The number of women who had given birth after the index surgery was lower among cases than controls (4 [7.8%] vs 13 [21.3%]; P=0.048), as was the median size of the largest leiomyoma removed (4 cm [range 3-10] vs 5 cm [range 3-25]; P=0.009). Reoperation was more likely among patients aged at least 40 years at index surgery (OR 1.10; 95% CI 1.18-7.78; P=0.021) and those with myxoid change (OR 2.04; 95% CI 1.07-55.41; P=0.043). The number of leiomyomas removed was negatively associated with reoperation (OR 0.30; 95% CI 0.58-0.93; P=0.012). CONCLUSION: Young age, removal of many or large leiomyomas, and pregnancy after myomectomy decreased reoperation risk, whereas myxoid change increased risk.

Pregnancy complicated by a Krukenberg tumor with an undetermined origin and its management.

Krukenberg tumor in pregnancy is very rare and management of this condition is a dilemma for physicians. Moreover, the existence of a primary Krukenberg tumor is still in debate. Herein, we present a 29-year-old woman at 29 weeks of pregnancy, admitted with premature labor and revealed to have a signet ring cell ovarian tumor with an undetermined primary origin. A primary Krukenberg tumor or a Krukenberg tumor with an undetermined origin has not been previously reported in a pregnant patient. By virtue of the controversy, we are not eager to use the term 'primary Krukenberg tumor' for this case, although the possibility of the existence of this kind of tumor cannot be totally ignored.

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.

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.

Late recurrence of sigmoid carcinoma mimicking primary vulvar cancer: case report and review of the literature.

OBJECTIVE: To demonstrate a unique case report about late and isolated vulvar metastasis of sigmoid adeno-carcinoma with review of the literature. MATERIAL-METHOD: 57 year old postmenopausal patient with prior sigmoid colon cancer history was admitted with isolated vulvar mass. Immunohistochemistry (IHC) and KRAS gen mutation analysis following surgery were performed to discriminate the metastasis from a vulvar primary malignancy. Further imaging techniques were also performed to exclude additional tumours. RESULTS: Immunohistochemistry (IHC) and KRAS gene mutation analysis revealed isolated metastasis of the colonic adeno-carcinoma in the vulva. CONCLUSION: Isolated and late occurring vulvar metastasis of colonic origin is very unusual. Careful evaluation and IHC is useful for such cases.

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.

Malignant peritoneal mesothelioma presented as peritoneal adenocarcinoma or primary ovarian cancer: case series and review of the clinical and immunohistochemical features.

Diffuse peritoneal malignant mesothelioma is a rare, progressive, and ultimately fatal disease and it can present as primary peritoneal carcinoma or ovarian cancer. Differential diagnosis is important to establish appropriate management. In this article the clinical presentation, immunuhistochemical and histopathological features of 8 diffuse peritoneal malignant mesothelioma cases presented as peritoneal carcinoma or ovarian cancer are evaluated. According to findings of all reported cases, we concluded that clinical distinction of malignant mesothelioma from ovarian cancer or peritoneal adenocarcinoma is very difficult. Differential diagnosis is reliably achieved by immune profile of the tumors with a systematic approach of both positive and negative mesothelioma markers.

Expression pattern of PAX2 in hyperplastic and malignant endometrium.

BACKGROUND: PAX2 is a member of paired box gene family and expressed during development of urogenital system. This study aimed to evaluate PAX2 expression pattern in hyperplastic and malignant endometrial tissues in comparison to non-pathological endometrial changes and to investigate the presence of any correlation between the PAX2 expression and tumor behavior. METHODS: The study was performed on the archival material of 121 endometrial tissues including complex hyperplasia (n = 18), complex atypical hyperplasia (n = 20), and endometrioid type adenocarcinoma (n = 47) as study groups, and proliferative endometrium (n = 21) and atrophic endometrium (n = 16) as control groups. One representative block for each case was selected for immunohistochemical evaluation. Sections with 4µm thickness were cut from the blocks and incubated with PAX2 rabbit anti-human polyclonal antibody. RESULTS: PAX2 nuclear staining was detected in all of the endometrial tissues. The mean percentages of PAX2 staining cells were 80.8, 96.7, 88.6, 92.7, and 99.2% with proliferative endometrium, atrophic endometrium, complex hyperplasia, complex atypical hyperplasia, and adenocarcinoma, respectively (Kruskal-Wallis; P < 0.001). The frequency of PAX2 staining increased as the pathology progressed in the manner of complex hyperplasia → complex atypical hyperplasia → adenocarcinoma. In cancer cases, there was no correlation between PAX2 expression levels and the stage, histological grade, myometrial invasion, and lymph node status. CONCLUSIONS: PAX2 is expressed in hyperplastic and malignant endometrium as well as proliferative and atrophic endometrium. As the neoplastic lesion progresses from a premalignant state to endometrial cancer, PAX2 expression increases. These findings suggest that PAX2 may contribute to the development of endometrial cancer.

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.

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-ß (ERß) 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 ERß expression. Five (35, 71%) of the 14 female control cases expressed ERß. 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 ERß expression (P < 0.001). No significant relationship was found between ERß 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 ERß expression level and RFS (P = 0.293). PFS in patients with lower ERß-expressing tumors was significantly better than that in patients with higher ERß-expressing tumors (P = 0.035). Multivariate analysis confirmed this significant influence on PFS (P = 0.025). CONCLUSIONS: Although ERß 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.

Adenoid cystic carcinoma of the Bartholin's gland: a rare tumor unmarked by persistent vulvar pain in a postmenopausal woman.

INTRODUCTION: Adenoid cystic carcinoma (ACC) of the Bartholin's gland is a rare malignancy characterized by slow growth, local invasion and perineural infiltration. CASE: A 64-year-old postmenopausal woman presented with persistent vulvar pain. Local examination revealed a 2 x 2 cm painful vulvar nodule. Nodule was excised and ACC originating in the Bartholin's gland with positive resection margin was determined in pathological examination. We performed hemivulvectomy and ipsilateral inguinal lymph node dissection. Pathology showed that the resection margins were free of tumor and there was no lymph node metastasis. DISCUSSION: In cases of persistent vulvar pain without swelling, complete vulvovaginal evaluation should be done to prevent delay in diagnosis of Bartholin's gland cancer. Treatment modality must be tailored to each patient, though there is no consensus on the treatment.

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 patient's 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.

Metachronous metastases from renal cell carcinoma to uterine cervix and vagina: case report and review of literature.

BACKGROUND: Although renal cell carcinoma (RCC) is characterized with unpredictable clinical presentation, multiple genital tract metastases are still surprising and mode of spread is obscure. CASE: We report a case of RCC metastases to uterine cervix and vagina 1 year after radical nephrectomy in a 19-year-old virgin. To our knowledge, this case is the second youngest patient with RCC metastasis to vagina, and also third patient with RCC metastasis to uterine cervix. CONCLUSION: Detection of genital lesion may precede diagnosis of RCC. The primary renal tumor was mostly left sided. Retrograde venous extension seems to be the most plausible mode of spread. Limited total experience and variability in therapeutic approach prevent generalizations regarding prognosis, optimal treatment and survival.

tuberculous otitis media in a renal transplant recipient.

Tuberculous otitis media is a rare cause of chronic suppurative infection of the middle ear and a very uncommon form of extrapulmonary tuberculosis. Although there have been several case reports in the nonimmunosuppressive population of tuberculous otitis media, it has never been reported in an immunosuppressed allograft recipient. We present a case of diagnosed tuberculous otitis media after recurrent chronic otitis media treated several times with empiric antibiotic treatment. After the patient developed postauricular fistula and underwent surgical removal of granulation tissue, the diagnosis was made on the basis of histopathology and growth in culture of Ziehl-Neelsen. Clinical response promptly followed institution of antituberculous treatment including isoniazid, rifampicin, ethambutol, and pyrazinamide.

Abnormal uterine bleeding as a presenting sign of metastasis to the endometrium in a patient with a history of cutaneous malignant melanoma.

BACKGROUND: Metastatic melanomas to the uterus are very rare; to our knowledge, only 11 cases have been reported to date. CASE: A 39-year-old multigravid woman with a history of cutaneous malignant melanoma presented with abnormal uterine bleeding. Histopathologic study of the endometrial biopsy showed neoplastic cells containing brown granular pigment among the endometrial glands suggesting melanoma. Immunohistochemical studies demonstrated intense reactivity of tumor cells for S-100 protein and HMB-45 confirming the diagnosis of endometrial metastatic malignant melanoma. A complete clinical workup ruled out metastatic spread to the brain, lungs, skeleton, or abdomen. A total abdominal hysterectomy, bilateral salpingo-oophorectomy, and pelvic lymph node sampling were performed. Final pathology examination revealed malignant melanoma limited to the endometrium. CONCLUSIONS: Abnormal uterine bleeding in patients with a history of malignancy should always alert the physician to consider the diagnosis of metastatic spread to the genital tract.

Case report: patient with multiple paragangliomas treated with long acting somatostatin analogue.

Paragangliomas of the head and neck are uncommon neoplasms. They are usually benign, but tend to be locally invasive. Although surgical resection remains the definitive treatment, important issues about management arise when such lesions are inoperable. Beneficial effects of octreotide treatment have already been reported in a malign paraganglioma case. Here we report a 24 year old female with familial, bilateral, multiple paraganglioma in the head and neck region, who firstly presented with pulsatile tinnitus and hearing loss in her left ear. After embolization was performed, she underwent operation twice because of the gross tumor mass. No significant change in tumor size was determined after the operations, however there were no distant metastases. Although she experienced hypertension attacks, no hormonal overproduction was found in repeated measurements. As the tumor was unresectable, new alternative therapies were sought. Octreotide scintigraphy was positive in the tumoral tissue, so we began to treat her with somatostatin analogue octreotide. After a 16 month follow up period, an improvement of the performance status, the near normalisation of attacks and stabilization of tumor growth were achieved. However, in the last three visits, she began to experience symptoms more frequently and it had been necessary to increase the octreotide dose. She is now well and being followed up. In conclusion, the beneficial effects of octreotide treatment could be quantified by clinical, tumor and scintigraphic criteria. These data suggest that octreotide can be useful in the treatment of inoperable paragangliomas.

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.