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

A 2-year-old boy presented with an atypical renal mass with extension into the pyelocalyceal system and distal ureter which was diagnosed initially as xanthogranulomatous pyelonephritis (XGP). The final diagnosis was intrapelvic Wilms tumor extending into the ureter. In the literature, only three patients have been described with Wilms tumor extending into the ureter, none of whom had a continuous extension into the distal ureter.
 ...
PMID:Intrapelvic Wilms' tumor simulating xanthogranulomatous pyelonephritis. 857 59

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.
 ...
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.
 ...
PMID:Pax-2, kidney development, and oncogenesis. 882 71

We present the previously unreported CT appearance of a Wilms' tumor which extended down the ureter and protruded into the bladder as a botryoid mass. The tumor apparently arose from an intralobar nephrogenic rest and demonstrated local invasion into renal sinus vessels and papillae. There was no tumor invasion into the wall of the ureter or bladder, and therefore, the extension into the ureter and bladder did not upstage the tumor. This report adds to the list of differential diagnoses of a botryoid bladder mass in a child and demonstrates yet another unusual manifestation of Wilms' tumor.
 ...
PMID:Noninvasive botryoid extension of Wilms' tumor into the bladder. 932 51

A rare case of botryoid Wilms tumor is presented. The main clinical manifestations were persistent low-grade fever, malaise, and proteinuria associated with microhematuria. Ultrasonography revealed an echogenic mass in the right kidney, and a contrast-enhanced mass was found in the dilated collecting system by contrast-enhanced computed tomography. The surgically resected tumor was a polypoid, light-yellow, glistening mass that occupied a large part of the renal pelvis and originated from the pelvicaliceal wall. Part of the tumor extended to the proximal ureter, resulting in hydronephrosis in the involved kidney. No parenchymal lesion was observed. Microscopic examination revealed epithelial, stromal, and blastemal components, which indicated Wilms tumor. Infection had occurred in the hydronephrotic kidney, which presumably had caused the major presenting symptoms. The prognosis of our patient and previously reported cases of botryoid Wilms tumor was good compared with that of typical Wilms tumor, since the botryoid type can be detected at an early stage.
 ...
PMID:Botryoid Wilms tumor: case report and review of literature. 1065 34

We report two rare cases of botryoid Wilms' tumor (BWT) occupying the renal collecting system with no macroscopic parenchymal mass. In case 1, a 3-year-old boy presented with a mass in the right flank, low-grade fever, abdominal pain, and macrohematuria. Radiology revealed an enlarged right kidney with a heterogeneous mass occupying a large part of the dilated renal calyx, pelvis, and ureter. Radical right nephroureterectomy was performed. The histopathologic diagnosis was nephroblastoma, and the pedicle of the tumor was attached to the renal parenchyma near the pelvic wall. In case 2, a 2-year-old boy presented with macrohematuria, and the clinical course was almost the same as in case 1. No local recurrence or metastatic spread has been detected for 4 years postoperatively in case 1 and for 9 months postoperatively in case 2.
 ...
PMID:Botryoid Wilms' tumor: a report of two cases. 1545 79

Wilms tumor gene 1 (WT1) is essential for normal urogenital development. Mutations in WT1 are involved in Wilms tumorigenesis and several associated syndromes, such as Denys-Drash, Frasier, or Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome. We report a novel familial WT1 point mutation in the stop codon of exon 10 (1730A/G; X450W) in 3 members of 1 family. The index patient is a 22-year-old woman in whom Wilms tumor and ureter duplex were diagnosed at the age of 9 years and who subsequently developed slow progressive nephropathy. Her mother also had late-onset nephropathy that led to end-stage renal failure, whereas renal function in 1 brother of the index patient was not impaired. We hypothesize that this type of mutation (read-through), which leads to an elongated, but otherwise unchanged, WT1 protein, may be associated with incomplete penetrance and a relatively late onset of both Wilms tumor and nephropathy in this family.
 ...
PMID:Novel familial WT1 read-through mutation associated with Wilms tumor and slow progressive nephropathy. 1595 41

We describe a case of a progressive bilateral cystic nephroma (BCN) in a child undergoing a multistaged surgical procedure. After partial resection of the left sided tumor, a progress occurred on that side and the left kidney had to be removed 10 weeks later. After 35 months a tumor progression was observed on the right side together with an ureteral obstruction leading to a decreased renal function. In a third operation a complete tumor resection on the right side was achieved through longitudinal partial nephrectomy, reconstruction of the renal pelvis, and reanastomosis of the reconstructed pelvis and ureter. The patient showed no evidence of the disease at 28 months of follow-up. The presented case provides an evidence that in BCN a tumor progress may occur after multistaged surgical approaches. A single-staged complete tumor resection with renal salvage techniques seems indicated.
 ...
PMID:A complicated case of bilateral cystic nephroma in a 16-month-old boy. 1627 73

We report a case of botryoid Wilms' tumor that occupied the renal pelvis and extended into the bladder. A 3-year-old boy was referred to us with a chief complaint of gross hematuria and micturition pain. Computed tomography showed tumor occupying the right renal pelvis and ureter and extending into the bladder. Right radical nephroureterectomy was performed. The resected specimen showed a botryoid sarcoma-like appearance, occupied the right renal pelvis and ureter, and protruded into the bladder. Histologic findings showed typical triphasic Wilms' tumor. Botryoid Wilms' tumor has been reported in only 16 cases in the literature and in only 3 cases extended into the bladder.
 ...
PMID:Botryoid Wilms' tumor of the renal pelvis extending into the bladder. 1660 Mar 49

Ureteral obstruction with subsequent hydronephrosis is clinically common. Most cases are identified and diagnosed in the perinatal period. The diagnosis of ureteropelvic junction obstruction (UPJO) implies a functionally significant impairment of the urinary transportation from the renal pelvis to the ureter. Although most cases are probably congenital in origin, they can clinically remain hidden until much later in life. UPJO is usually considered an isolated event. Recently, we have evaluated a father and his 3 sons, all of whom had UPJO. This study reports a missense mutation of threonine 386, which was replaced with alanine in Wilms' tumor genes. We suggest that UPJO might not necessarily be sporadic and other family members might have a similar problem.
 ...
PMID:Mutations in intron 8 and intron 9 of Wilms' tumor genes in members of family with ureteropelvic junction obstruction. 1939 7


<< Previous 1 2 3 4 5 Next >>