1/292. 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 = endocrine (Clic here for more details about this article) |
2/292. Metanephric adenoma-like tumors of the kidney: report of 3 malignancies with emphasis on discriminating features.BACKGROUND: Metanephric adenoma is a very rare benign renal tumor; only 80 well-documented cases have been reported to date. We have seen several renal tumors that were originally incorrectly diagnosed as metanephric adenoma. DESIGN: We present 3 unusual renal tumors (2 primary and 1 metastatic), each of which illustrates important pathologic features useful in discriminating metanephric adenoma from malignant mimics. RESULTS: Case 1 involved a 46-year-old man with multiple small, cortical, solid, papillary (chromophil) renal cell carcinomas in his right kidney; the patient developed multiple, histologically identical, solid, papillary (chromophil) carcinomas in the opposite kidney 17 months later. Case 2 involved a 32-year-old woman with a 14-cm right renal tumor who developed soft tissue and bone metastases over a 17-year period. Case 3 involved a 52-year-old woman who presented with a 1.8-cm corticomedullary renal nodule, which eventually proved to represent a metastasis from a poorly differentiated (insular) carcinoma of the thyroid. All 3 tumors superficially resembled metanephric adenoma and consisted of primitive, dark-staining cells arranged in tubules or sheets. Each tumor, however, also had features inconsistent with the diagnosis of metanephric adenoma, including multifocal lesions with a variable nuclear-cytoplasmic ratio and diffuse cytokeratin 7 and epithelial membrane antigen immunopositivity in case 1, a 14-cm-diameter tumor with occasional mitoses in case 2, and a distinct fibrous capsule with capsular and vascular invasion in case 3. In addition, all 3 tumors lacked the cytologic features of bland overlapping nuclei with imperceptible cytoplasm consistently seen in metanephric adenoma. CONCLUSION: Adherence to strict histopathologic criteria will discourage misdiagnosis of a malignant or potentially malignant renal neoplasm as the rare and always benign metanephric adenoma.- - - - - - - - - - ranking = 0.35442469825441keywords = bone (Clic here for more details about this article) |
3/292. 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 = 0.35442469825441keywords = bone (Clic here for more details about this article) |
4/292. Tumor-to-tumor metastasis to follicular variant of papillary carcinoma of thyroid.OBJECTIVE: To describe and document tumor-to-tumor metastases in the thyroid gland. methods AND RESULTS: In this series we describe 3 cases of tumor-to-tumor metastasis in which the recipient tumor was a follicular variant of papillary thyroid carcinoma. The donor tumors and sites were small cell carcinoma of the lung, neuroendocrine carcinoma probably of pancreatic origin with initial presentation as liver metastasis, and clear cell carcinoma of the kidney with metastasis to liver and pancreas. The donor tumor cells infiltrated the substance of the follicular variant of papillary thyroid carcinoma, the nontumorous thyroid parenchyma, and the lymphovascular spaces. Small cell carcinoma and neuroendocrine carcinoma showed positive reactivity for neuroendocrine markers and were negative for thyroglobulin and calcitonin. The follicular variant of papillary thyroid carcinoma showed positivity with thyroglobulin and cytokeratin 19. CONCLUSIONS: Although tumor-to-tumor metastases in thyroid gland are exceedingly rare, one should be aware of this phenomenon as the metastatic lesion may simulate a thyroid primary. history of a previous tumor and immunohistochemical stains can be helpful in distinguishing between primary and metastatic thyroid neoplasms.- - - - - - - - - - ranking = 1.5keywords = endocrine (Clic here for more details about this article) |
5/292. Syndrome of microcephaly, Dandy-Walker malformation, and wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.- - - - - - - - - - ranking = 0.35442469825441keywords = bone (Clic here for more details about this article) |
6/292. Renal and adrenal gland localization of chronic myelomonocytic leukemia presenting as a kidney tumor.Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome (MDS) characterized by prominent monocytosis and an increase in bone marrow monocyte precursors in addition to dyshaematopoietic features (1). Extrahaematological manifestations including cutaneous, neurologic, and rheumatic symptoms have been recorded in association with CMML. Here, we report the first observation of renal, adrenal and perirenal involvement in CMML which presented as a kidney tumor.- - - - - - - - - - ranking = 0.35442469825441keywords = bone (Clic here for more details about this article) |
7/292. Renal cell carcinoma metastasizing to the thyroid gland.Renal cell carcinoma represents 3% of all adult malignancies. Metastases occur most frequently in the bone and lung. Four cases of renal cell carcinoma metastasizing to the thyroid gland are described here. A literature review is presented and guidelines for the management of this rare condition are suggested.- - - - - - - - - - ranking = 0.35442469825441keywords = bone (Clic here for more details about this article) |
8/292. Amphicrine tumor.The term amphicrine refers to cells, and tumors, which show both exocrine and endocrine features. Author s aim was to analyse the characteristics of these neoplasms. 40 suspicious cases were reviewed. Mucin-stains (PAS, diastase-PAS, Stains-all, Alcian-blue), immunohistochemistry (antibodies against Neuron-Specific Enolase (NSE), and chromogranin a (CGA), and electronmicroscopic studies were performed to demonstrate exocrine and/or endocrine features of the tumor cells. By means of these methods, 16 cases turned out to be amphicrine tumors. Among them, there were 4 sinonasal, 1 bronchial, 1 mediastinal, 8 gastrointestinal and 2 suprarenal gland neoplasms. In connection to the subject, a brief review is given of amphicrine tumor, regarding its etiological and pathological aspects. These tumors form a distinct clinicopathological entity and should be separated from both neuroendocrine tumors and adenocarcinomas.- - - - - - - - - - ranking = 1.5keywords = endocrine (Clic here for more details about this article) |
9/292. Partial nephrectomy for incidental primary renal neuroendocrine carcinoma: case report.Here we present an 83-year-old woman who was referred to our hospital and had had left flank pain and oligouria for 3 days. Plain abdominal film and ultrasonography revealed left ureteropelvic junction stone with obstructive uropathy. The serum level of creatinine fell to 3.1 mg/dl from 7.6 mg/dl after ureteral catheter drainage was given 5 days after admission. Then a left pyelolithotomy was performed and a tumor of 2 x 1 x 1 cm over the lower pole of the left kidney was found incidentally. Partial nephrectomy was performed in consideration of her age and poor renal function although the biopsy result showed it to be carcinoma. The final pathological report and immunohistochemical study results proved that it was neuroendocrine carcinoma. To our knowledge, this is the first case of primary renal neuroendocrine carcinoma to be treated using conservative surgery. The clinical course was acceptable, since she had been found to be free of disease during regular follow-up of 2.5 years with the creatinine level of about 2.5 mg/dl.- - - - - - - - - - ranking = 3keywords = endocrine (Clic here for more details about this article) |
10/292. Renal cell carcinoma presenting as a pseudo-carcinoid tumour.A 38-year-old woman presented with hypertension and a renal cell carcinoma. Raised urinary 5-hydroxyindoleacetic acid values >300 micromol/l, predictive of carcinoid tumour, were found during the perioperative period. The values returned towards normal 2 weeks post-surgery. Immunohistochemical examination of the renal cell carcinoma with neuroendocrine markers was negative. Despite a diligent search, no carcinoid tumour could be identified and the patient was well 4 years later. There was no dietary or drug explanation for this pseudocarcinoid.- - - - - - - - - - ranking = 0.5keywords = endocrine (Clic here for more details about this article) |
| | Next -> |