1/844. Bilateral wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene.Mutations in the WT1 gene causing Wilms tumors were first reported in wagr syndrome (wilms tumor, aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or wagr syndrome WT1 mutations were identified. We report a boy, who was born in 1989 with hypospadias and bilateral cryptorchidism. Previous karyotyping and endocrine studies had ruled out any known cause of male pseudohermaphroditism. Subsequently, he developed a bilateral wilms tumor, which was detected by palpation at the age of 15 months during a routine visit by the general pediatrician. Because of its extensive size, surgery and chemotherapy were needed for treatment. Analysis of the WT1 gene was performed 5 y after diagnosis and revealed a C to T transition in one allele generating a stop codon at codon 362 and subsequently leading to a truncated protein with loss of its ability to bind to dna. No signs of DDS or wagr syndrome are present in the boy. The work up of this patient and the so far known few comparable cases from the literature lead to the conclusion that in newborns with severe urogenital malformations not due to known chromosomal or endocrine disorders mutational screening of the WT1 gene should be performed, to evaluate the high risk of developing a wilms tumor. We favor mutational screening in these patients as an easy tool for investigation, because in the future it will probably decrease the necessity of frequent control visits in patients without a WT1 mutation.- - - - - - - - - - ranking = 1keywords = gene (Clic here for more details about this article) |
2/844. Wilms' tumor in the adult--report of a case and review of the literature.Wilms' tumor is rare in adults. Its histology, grading and staging are identical to those in children. Investigators agree on a combined modality approach in the treatment of adult Wilms' tumor (AWT), but differ on how aggressive it should be. Some advocate adopting the current pediatric protocols which take into account tumor stage and grade. Others recommend using advanced disease regimens for all stages and grades. We report on an 18 year-old male with stage IV favorable histology Wilms' tumor. The patient underwent radical nephrectomy and received postoperative radiotherapy with intensive four-drug chemotherapy. He had one relapse after 12 months which was successfully treated with chemotherapy and radiotherapy. He remains in remission without relapses 36 months after the initial diagnosis. The genetics of Wilms' tumor has been well studied in children but is practically unknown in adults; karyotype and molecular genetic studies in this case were normal.- - - - - - - - - - ranking = 0.22222222222222keywords = gene (Clic here for more details about this article) |
3/844. Percutaneous nephrolithotomy with renal angiomyolipomas: a rare challenge.Renal angiomyolipomas (AML) are vascular tumors associated with a risk of spontaneous bleeding. Renal trauma may also initiate such hemorrhage. We present a case in which we initially avoided direct puncture and the possible risk of bleeding through extensive renal AMLs and then subsequently performed a direct puncture through the tumors. A 21-year-old obese male patient with tuberous sclerosis and mental retardation presented to our institution with left renal colic and was found to have a staghorn calculus. A CT scan revealed extensive bilateral renal AMLs. The patient had previously undergone renal angioinfarction for an enlarging right-sided AML, and nuclear renography demonstrated 70% function from the left side. The patient had a nephrostomy access created on the morning of a scheduled percutaneous nephrolithotomy under three-dimensional CT guidance. There was no clinically significant bleeding. Intraoperatively, a second access site was required in order to render the patient stone free. This was done using standard biplanar fluoroscopic technique and traversed an AML. Both tracts were balloon dilated prior to placement of a 34F Amplatz sheath. Postoperatively, the patient had an uneventful recovery. A CT scan performed 1 day postoperatively revealed no retroperitoneal collection. This case demonstrates that renal access can be achieved with remarkable accuracy using 3D CT imaging. Furthermore, although this approach seems most prudent in the case of extensive renal AMLs, fluoroscopically guided renal access and dilation to 34F was not associated with bleeding in this patient.- - - - - - - - - - ranking = 0.11378839128131keywords = mental retardation (Clic here for more details about this article) |
4/844. Renal cell carcinoma in children with diffuse cystic hyperplasia of the kidneys.We report the clinical, pathologic, and genetic features of renal malignancy in two children with diffuse cystic hyperplasia. Both presented with massive bilateral nephromegaly. Neither had a family history or clinical findings suggestive of tuberous sclerosis or von hippel-lindau disease. The kidneys of both children were extensively replaced by tubulocystic hyperplasia with large eosinophilic epithelial cells. The masses of hyperplastic tissue were nodular, compressing remnants of uninvolved renal parenchyma. Tubulopapillary carcinoma was present in both children, one of whom had bilateral multicentric carcinoma. No loss of heterozygosity was detected in the tumors at the TSC1, TSC2, or VHL gene regions, and no alterations in the VHL gene were detected using single-strand conformation polymorphism analysis. These cases of bilateral renal enlargement with diffuse cystic hyperplasia appear to represent a new clinical syndrome that may warrant bilateral nephrectomy because of the risk of malignancy.- - - - - - - - - - ranking = 0.33333333333333keywords = gene (Clic here for more details about this article) |
5/844. Chromosome instability in lymphocytes from two patients affected by three sequential primary cancers: the role of fragile sites.The chromosomal aberration rate and the expression of fragile sites induced by aphidicolin were evaluated in metaphase chromosomes obtained from peripheral blood lymphocytes of two untreated patients with multiple primary cancers. Spontaneous aberrations of chromosome number and structure and chromosome fragility were compared with controls with the use of the same methods. Chromosomal aberration rates and expression frequencies of fragile sites were significantly higher in the patients than in normal control subjects. In the patients, all but one structural chromosome aberration involved at least one fragile site. Our results suggest that fragile sites may be unstable regions of the human genome, which might play an important role in the genetic instability associated with cancer predisposition.- - - - - - - - - - ranking = 0.11111111111111keywords = gene (Clic here for more details about this article) |
6/844. Primary tumor of the ureteral stump following a nephrectomy for renal cell carcinoma.BACKGROUND: A 64-year-old man presented with asymptomatic macroscopic hematuria during a follow up for a localized renal cell carcinoma (RCC), which was treated by a right radical nephrectomy 6 years earlier. methods: x-rays and a ureteroscopic examination revealed multiple papillary tumors filling the right ureteral stump. Surgery was performed to excise the ureteral stump and bladder cuff. The tumor was histologically a grade 2-3 transitional cell carcinoma without muscle invasion. RESULTS/CONCLUSIONS: Only four patients with a ureteral stump carcinoma, including the present case, have been reported after a nephrectomy for RCC. Considering that this patient had a past history of multiple cancers, genetic or environmental factors may have contributed to the etiology of the ureteral stump tumor.- - - - - - - - - - ranking = 0.11111111111111keywords = gene (Clic here for more details about this article) |
7/844. A case of renal metanephric adenoma: histologic, immunohistochemical and cytogenetic analyses.BACKGROUND: A unique case of metanephric adenoma of the left kidney is reported in a 61-year-old woman presenting with an incidental renal mass on ultrasonography. methods/RESULTS: On radiographic examination, the presence of hypovascular renal cell carcinoma was suspected and left radical nephrectomy was performed. The resected tumor, measuring 4.9 x 4.7 x 4.5 cm, was well-circumscribed and solid and its cut surface was tan-pink with foci of focal hemorrhage and cystic change. Microscopically, the tumor was composed of uniformly small acini with hyperchromatic round nuclei. Some acini were dilated and occasionally contained glomeruloid-like bodies and psamoma bodies. Immunohistochemically, tumor cells showed positive immunoreaction for vimentin, cytokeratin and Leu 7. Cytogenetically, the tumor did not show numerical aberrations of chromosome 7 or 17 by fluorescence in situ hybridization. CONCLUSIONS: The patient is alive without recurrence or metastasis 4 years after surgery. Metanephric adenoma must be differentiated from other renal tumors, particularly Wilms' tumor or low-grade renal cell carcinoma. Immunohistochemical and cytogenetic analysis may be helpful in difficult cases.- - - - - - - - - - ranking = 0.66666666666667keywords = gene (Clic here for more details about this article) |
8/844. Composite renal cell carcinoma and angiomyolipoma: a study of the histogenetic relationship of the two lesions.The purpose of the present study was to investigate the possible histogenetic relationship of renal cell carcinoma (RCC) and angiomyolipoma (AMYL) occurring in the same renal nodule by examining two cases of composite RCC and AMYL in patients without stigmata of tuberous sclerosis and by reviewing the medical literature of similar cases. Case 1 represents an epithelioid variant of AMYL with multiple additional nodules of typical AMYL in a surgically removed kidney. The patient subsequently developed a lesion consisting of a mixture of epithelioid variant of AMYL and RCC 24 months later in the retroperitoneum and, an additional 4 months later, in the liver. The RCC cells resembled mononucleated epithelioid cells of the epithelioid AMYL except that they were focally reactive with epithelial membrane antigen (EMA) in the retroperitoneum and focally reactive with both EMA and cytokeratin (CK) in the liver. Case 2 consisted of a typical AMYL admixed with a chromophil cell RCC. A review of the medical literature revealed seven additional cases with histopathological findings similar to this case. All cases had multiple foci of typical AMYL. Immunostaining results are available in five tumors. Chromophil RCC showed variable reactivity with CK and EMA. In addition, RCC in the two cases in the present study also displayed a positive reaction with mucin staining and a positive reactivity with carcinoembryonic antigen. There appears to be a spectrum of histopathological and immunohistochemical changes from the epithelioid variant of AMYL through a mixed epithelioid AMYL/RCC to chromophil RCC in three successive specimens in case 1. Moreover, the intimate admixture of AMYL and RCC and the similar expression of epithelial markers of RCC in the two cases in the present study, as well as other cases in the literature, suggest that some RCC develop from the same precursor cell as AMYL or from a component of AMYL.- - - - - - - - - - ranking = 0.55555555555556keywords = gene (Clic here for more details about this article) |
9/844. Clear cell sarcoma of soft parts: report of a case primary in the kidney with cytogenetic confirmation.Clear cell sarcoma of soft parts (CCSSP), also known as malignant melanoma of soft parts, is an aggressive tumor that usually presents in soft tissue and very rarely in small bowel. We report a case arising in the kidney of a 20-year-old man which was difficult to distinguish from Wilms' tumor. The tumor metastasized to the liver and lungs, and the patient died of disseminated disease 5 years after his initial presentation. Both the primary and metastatic tumors were composed predominantly of spindle cells with occasional more epithelioid areas that were inconsistently arranged in nests. In both primary and metastatic sites, the tumor surrounded and entrapped normal epithelial elements, mimicking the biphasic appearance of Wilms' tumor. The tumor cells, however, were positive for S-100 protein and HMB45 and negative for keratin and CD99, and cytogenetic analysis revealed a clonal abnormality, translocation t(12;22)(q13;q12), characteristic of CCSSP. This result was verified by fluorescence in situ hybridization on paraffin-embedded tissue, which demonstrated EWS gene-region rearrangement. CCSSP joins a growing list of tumors that typically arise in soft tissue (PNET, solitary fibrous tumor, and infantile/congenital fibrosarcoma), but can also present in the kidney and may be confused with primary renal tumors. awareness of this possibility and the use of ancillary studies. including immunohistochemistry, cytogenetic analysis, and fluorescence in situ hybridization, are important for accurate diagnosis.- - - - - - - - - - ranking = 0.77777777777778keywords = gene (Clic here for more details about this article) |
10/844. Collecting duct meningeal carcinomatosis.Collecting duct carcinoma (CDC) is an aggressive primary renal neoplasm that represents a distinct subtype of renal cell carcinoma. Histochemical (eg, mucicarmine) and immunohistochemical (eg, ulex europaeus) studies, taken in concert with the gross and histologic findings, allow differentiation of CDC from the conventional varieties of renal cell carcinoma in most cases. Collecting duct carcinoma generally pursues a more aggressive course than conventional renal cell carcinoma. Metastases to regional lymph nodes, bone, adrenal glands, lung, and skin have been reported in CDC. We describe the case of a 26-year-old man who presented with a clinical and radiologic impression of multifocal meningioma. Biopsies of the meninges and extracranial soft tissues revealed metastatic adenocarcinoma; subsequent studies suggested metastatic CDC. Ultrasound-guided biopsy was performed on a subsequently identified renal mass, which showed features consistent with CDC. To our knowledge, this is the first reported case of meningeal carcinomatosis due to CDC. The diagnostic features of this tumor are discussed.- - - - - - - - - - ranking = 0.11111111111111keywords = gene (Clic here for more details about this article) |
| | Next -> |