Giant angiomyolipoma associated with marked pulmonary lesions suggesting lymphangioleiomyomatosis in a patient with tuberous sclerosis

The association between Tuberous Sclerosis (TS) and Angiomyolipoma (AML) is well known. A patient with TS and giant AML mimicking Renal Cell Carcinoma (RCC), measuring 29 × 18 × 11 cm, weighing 4700 gr is presented. Imaging studies revealed coexistent pulmonary lymphangioleiomyomatosis and concurrent renal and pulmonary involvement is extremely rare in patients in TS. We believe that the growth potential of this hamartomatous lesion may reach to a life threatening size. This revised version was published online in August 2006 with corrections to the Cover Date.     

Gender differences in stage-adjusted bladder cancer survival

OBJECTIVES: Gender differences have been observed in the prognosis of patients with bladder cancer. It has also been suggested that these differences are caused by a worse stage distribution at diagnosis among women. The purpose of this study was to evaluate whether women with bladder cancer have a worse prognosis even after adjustment for disease stage at first presentation. METHODS: Data on patients with bladder cancer diagnosed between 1973 and 1996 and registered by one of the nine population-based Surveillance, Epidemiology, and End Results (SEER) cancer registries in the United States (n = 80,305) were obtained from the National Cancer Institute public domain SEER*Stat 2.0 package. Similar data on patients with bladder cancer diagnosed between 1987 and 1994 and registered by two population-based registries in the Netherlands (n = 1722) were obtained through the Comprehensive Cancer Centers, Amsterdam and South. Survival rates adjusted for mortality owing to other causes (ie, relative survival) were calculated for men and women within each category of the American Joint Committee on Cancer (SEER data) and TNM (Netherlands data) stage groupings.Results. In the United States, the 5-year relative survival rate of male patients with bladder cancer was calculated to be 79.5% (95% confidence interval 79.0% to 80.0%). Among women, the 5-year relative survival rate was significantly worse: 73.1% (95% confidence interval 72.2% to 74.0%). The male versus female 5-year survival rate among stage groups I, II, III, and IV was 96.5% versus 93.7%, 65.5% versus 59.6%, 58.8% versus 49.6%, and 27.1% versus 15.2%, respectively. The (sparser) data from the Netherlands were less conclusive. Women with Stage II and Stage IV disease fared worse than men but the reverse seemed to be true in Stage I disease. CONCLUSIONS: Female patients with bladder cancer have a worse prognosis than male patients. It is unlikely that the difference can explained entirely by the more frequent diagnosis of higher stages at first presentation among women.     

Prognostic significance of estrogen receptor expression in superficial transitional cell carcinoma of the urinary bladder

OBJECTIVES: The role of estrogens in human bladder cancer still remains to be resolved. This study was undertaken to determine the estrogen receptor (ER) expression status and to elucidate the prognostic significance of ER in superficial transitional cell carcinoma (TCC) of the human bladder. METHODS: Tumor tissue blocks which were obtained by transurethral resection (TUR) from 121 patients with superficial TCC and 30 control subjects were investigated. Median follow-up was 40 months. The expression of nuclear ER was evaluated by immunohistochemistry using avidin-biotin-peroxidase method and a monoclonal ER antibody. ER staining intensity in samples was assessed semi-quantitatively. Staining characteristics were compared with the clinico-pathological results. RESULTS: ERs were detected in 12.4% of the superficial TCC patients and in 10% of the controls (P = 0.73). No association was found between ER immuno-reactive score and patients' age, sex, tumor multiplicity or tumor size. An association between the ER staining intensity and higher tumor grade was observed (P = 0.01). Grades I, II and III tumors showed 10.6, 8.7 and 44.4% staining, respectively. Survival was not affected by ER expression. In multivariate analysis ER expression was not an independent prognostic factor. CONCLUSION: Superficial TCC of the bladder shows low ER expression and it appears that ERs do not have any direct role on the prognosis of patients with superficial TCC.     

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

Multiple sulfatase deficiency: A case series of four children

Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the activity of sulfatases. We describe clinical findings and mutation analysis of four patients. The patients presented with hypotonia, developmental delay, coarse face, ichthyosis, and hepatosplenomegaly. The diagnosis was made through clinical findings, enzymatic assays, and mutation analysis. We were detected to be homozygous for a novel missense mutation c. 739G > C causing a p.G247R amino acid substitution in the SUMF1 protein.Key Words: Child, multiple sulfatase deficiency, sulfatase-modifying factor 1 gene     

Cotyledonoid leiomyoma of uterus: a case report

The diagnosis of uterine smooth muscle tumors is usually not difficult. Occasionally, benign tumors with an unusual growth pattern may cause some diagnostic confusion for pathologists who had not experienced such a tumor before. A fifty-one year old female patient had admitted to our gynecology outpatient clinics with abnormal uterine bleeding (menorrhagia) and undergone a surgery with a diagnosis of pelvic mass. A neoplasm consisting of spindle cell nodules with prominent hydropic degeneration was observed at pathological examination. Tumor cells were positive for vimentin, desmin and smooth muscle actin at immunohistochemical evaluation. Cotyledonoid leiomyomas are rare benign smooth muscle tumors of uterus which are recently defined in the literature. In this article we report a case of cotyledonoid leiomyoma of uterus with an exophytic growth pattern in the serosa and did not contain an intramural dissecting component.