Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0403608 (ureter)
 9,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The embryonic kidney is an excellent model system in which to address many fundamental issues in developmental biology. Inductive interactions are required for proliferation and differentiation of the ureter epithelium and kidney mesenchyme. Recent studies implicate a receptor-type tyrosine kinase as a target of inductive signals in the developing ureter. In the mesenchyme, the early induction response requires at least two transcription factors, WT1 and Pax-2. Through the integrated application of in vitro culture models and gene targeting methods, the molecular mechanisms underlying kidney morphogenesis are becoming clearer.
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PMID:The regulation of kidney development: new insights from an old model. 784 9

WT1, the Wilms' tumour suppressor gene located at chromosome 11p13, plays an important role in the development of the kidney. It is mutated in 10 per cent of Wilms' tumours (WTs) and their putative precursors called nephrogenic rests (NRs). A sensitive immunohistochemical technique was established to localize the WT1 gene product in archival normal tissues and paediatric renal tumour samples. Strong nuclear signal was seen in the various sites such as the kidneys, gonads, and decidua. Nuclear immunoreactivity of variable intensity was also seen in the skeletal muscle, smooth muscle of urinary bladder, ureter, and arteries. All 28 WTs (including the anaplastic variant) showed the WT1 gene product in a varying proportion of the blastema, epithelium, and stroma. The anaplastic nuclei in six WTs showed an intensity of staining comparable to their adjacent favourable histology counterparts. All the intralobar and perilobar types of NR demonstrated the WT1 gene product. All three malignant rhabdoid tumours were positive, while three of four mesoblastic nephromas and a clear cell sarcoma were negative. These findings provide an insight into the interrelationships of these renal tumours.
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PMID:The expression pattern of Wilms' tumour gene (WT1) product in normal tissues and paediatric renal tumours. 875 8

The development of a complex tissue from a few simple precursor cells requires the precise activation and repression of tissue-specific genes that determine cell lineages, tissue patterning, and cellular proliferation. In the kidney, a number of recently identified genes are critical for normal development. Among these, the Pax-2 gene encodes a transcription factor that is expressed in the ureter bud, in the induced kidney mesenchyme, and in the progenitor cells of the glomerular and tubular epithelium. Although the differentiation of the renal epithelium requires Pax-2 function, failure to suppress the gene in mature epithelium is detrimental to normal renal function. Recent, data suggest that the Wilms' tumor-suppressor gene WT1 can down-regulate Pax-2 expression, consistent with high levels of Pax-2 in Wilms' tumors. Additional studies suggest that reactivation of this developmental regulator can contribute to a variety of other renal diseases.
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PMID:Pax-2, kidney development, and oncogenesis. 882 71

Nephrogenic rests are nodular collections of undifferentiated renal blastema cells in the postnatal kidney that are recognized as putative precursor lesions of Wilms tumor. In this study, we report the case of a 3-year-old boy who was diagnosed with a hyperplastic intralobar nephrogenic rest extending through the renal pelvis and ureter. After radical nephrectomy, adjuvant chemotherapy was performed as done in stage II Wilms tumor. We also investigated the mutation of the WT1 gene and identified a related single-nucleotide polymorphism (rs16754). We consider that not only various genetic mutations but also single-nucleotide polymorphisms or other epigenetic factors might be involved in the development of Wilms tumor.
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PMID:Single-nucleotide polymorphism in WT1 gene in a hyperplastic intralobar nephrogenic rest with botryoid protrusion. 1991

In this article, we report a case of primary squamous cell carcinoma of the salpinx (PSCCS) with immunohistochemical and molecular studies to evaluate the phenotype and define the etiopathogenesis of this neoplasm. A 77-year-old woman, 38 years postmenopausal, was admitted to the Department of Obstetrics and Gynecology for ascites. Her clinical history showed breast carcinoma and left salpingooophorectomy as a result of extrauterine pregnancy. Cytological examination of the free peritoneal fluid showed clusters of malignant cells consistent with ovarian carcinoma. Transvaginal ultrasonography and a pelvic computed tomography scan disclosed a right pelvic mass with solid and cystic areas, measuring 3.222.3 cm. The patient underwent exploratory laparotomy. Intraoperative findings showed a mass that had replaced the salpinx and enveloped the ovary and ureter. The surface of the omentum was covered in small white nodules. Pathological examination showed that the right pelvic mass corresponded to PSCCS, whereas the omental white nodules were primary serous carcinoma. On immunohistochemical analysis, the tubal neoplasm showed positivity to Ca-125, keratin 14, and p63 and negativity to WT1 and p16. The hyper-expression of the p53 protein was evident as nuclear positivity. Molecular study by polymerase chain reaction amplification of the tumor DNA did not show any signal for human papilloma virus DNA. In summary, in this case we showed that the PSCCS was not due to human papilloma virus infection, but in all probability due to other pathogenetic mechanisms that cause a mutation of the p53 tumor-suppressor gene.
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PMID:A Unique case of primary squamous carcinoma of the salpinx associated with serous carcinoma of the omentum: a pathological and molecular study. 2088 60

We report the presence of epididymis-like tubules in unilateral renal hypodysplasia in 3 adult men. Microscopy showed dilated tubules lined by ciliated columnar epithelium and smaller basal cells, morphologically resembling epididymal tubules. Small tubules lined by cuboidal epithelium were also present in all cases, with glomeruli in 2 cases. The epididymis-like tubules expressed CD10, CK7, PAX8, and AR in the luminal epithelium, while the basal cells were positive for p63, CK7, and focally for CD10. The smooth muscle bundles around the epididymis-like tubules were focally AR and WT1 (cytoplasmic) positive. The epididymis-like tubules were negative for ER, PR, and WT1. CK7 and PAX8 stained all the collecting ducts, with AR staining some. Bowman's capsule, parietal and visceral epithelial cells expressed CD10; WT1 stained the visceral and parietal epithelial cells. Glomerular parietal cells expressed PAX8 and focally, CK7. Proximal tubules were positive for CD10 (luminal membranous and weak cytoplasmic). Distal tubules expressed CK7, PAX8 and AR. An occasional small tubule was ER positive. Scattered stromal cells expressed ER, PR, and AR. The urothelium of the renal pelvis/upper ureter expressed CK7 in all layers, CD10 in the superficial layers, PAX8 in the basal layers and p63 in all layers except the umbrella layer. The epididymis-like tubules replicate the pattern of the mesonephros-derived normal epididymis in expressing CK7, PAX8, CD10, and AR. This supports a mesonephric rather than metanephric origin for these tubules. The aberrant expression of some markers may be a manifestation of the dysplastic nature of the kidneys.
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PMID:Epididymis-like Tubules in Adult Renal Hypodysplasia: Immunohistochemical Features Indicate a Mesonephric Origin. 2785 32

Wilms' tumor is the most common primary renal malignancy in children (80%) and the less common tumors include renal cell carcinoma, rhabdoid tumor, clear cell sarcoma, cellular congenital mesoblastic nephroma and medullary carcinoma, all of which originate from renal parenchyma. The tumors originating from renal pelvis are rare. The immunohistochemistry (IHC) showed INI1 deletion with the WT1 positive which has not been reported as we know. A 3-year-old boy was admitted to hospital for vomiting. An ultrasonography examination revealed a mass in the right kidney, medium echo, as well as hydronephrosis with collecting system separation of 3.5 cm. The computed tomography and the magnetic resonance (MR) radical showed that the tumor occupied the right renal pelvis and extended into the ureter. A radical nephroureterectomy was accomplished through a transabdominal approach. The pathologic diagnosis was malignant renal tumor with INI1 deficiency which was atypical in morphology and immunophenotype, but according to immunophenotype renal rhabdomyoid tumor could not be excluded. The patient was treated with carboplatin, etoposide and cyclophosphamide chemotherapy for 6 months. Follow-up studies of the patient showed no indication of recurrence or metastasis 22 months after nephrectomy. The novel findings may expand the spectrum of pediatric renal tumors to include the special malignancy.
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PMID:Renal malignant tumor with the loss of INI1 expression and WT1 positive in a 3-year-old boy: a case report. 3320 93