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)

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 on a rare case of botryoid Wilms tumor extending into the duodenum. This uncommon macroscopic form of nephroblastoma consists entirely of a polypoid renal intrapelvic mass. The main differential diagnosis of this unusual tumor is botryoid rhabdomyosarcoma. A 14-month-old boy presented with a painful abdominal mass. Radiology revealed a large heterogeneous mass in the renal calyx, protruding into the ureter. A right radical nephroureterectomy was carried out. The tumor was found to extend into the 2nd portion of the duodenum. The pathologic diagnosis was mixed type nephroblastoma, SIOP 2001 stage III. The patient was given a course of postoperative chemotherapy. No local recurrence or metastatic spread has been detected after 2 years. Only few such cases have been previously reported, some of them extending into the bladder. To our knowledge, botryoid nephroblastoma has not previously been described as extending into the digestive system.
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PMID:[Botryoid Wilms tumor extending into the duodenum]. 2094 55

Primary tumors of the renal pelvis and ureter account for about 8% of all urinary tract tumors. More than 90% of them are urothelial carcinomas. On the other hand, unilateral multicystic renal disease is an uncommon pathologic condition that may be mistaken for unilateral autosomal dominant polycystic kidney disease, multilocular cystic nephroma or cystic neoplasm. We present the case of a 54-year-old male known with arterial hypertension, admitted in the Second Surgery Department of Emergency County Hospital, Constanta, with intense right flank and right lumbar pain. This symptom started one month before hospital admission. Based on clinical features and imaging evaluations we established a presumptive diagnosis of unilateral autosomal dominant polycystic kidney disease. For these reasons, total right nephrectomy was performed. Pathologic examination of the nephrectomy specimen revealed high-grade urothelial carcinoma of the renal pelvis associated with unilateral multicystic renal disease. The particularity of this case lies in the uncommon association between two rare renal pathological conditions diagnosed by pathological examination.
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PMID:Urothelial carcinoma of the renal pelvis associated with cystic disease of the kidney. 2142 1

Paired box2 (Pax2) gene plays a crucial role in kidney development and is expressed in the nephric duct, mesenchyme of pronephrons, mesonephrons, and metanephrons with special spatial and temporal characteristic. Research in animals indicate that Pax2 can interact with many important transcription factors such as Gdnf, Ret, SHH, Wnt4, and Fgf to organize the nephric linage specification, pro/mesonephric tubule formation and descent, emergence of the ureteric bud, branching morphogenesis, and nephron induction. Pax2 is associated with various congenital renal and ureter malformations, and the mutation is easist to detected in Renal-coloboma syndrome. In renal cell carcinoma, Wilms tumor and many acquired kidney diseases Pax2 is expressed abnormally, whose diagnose and therapy value will be the focus of further research. This paper reviews the molecular structure, expression and regulation of Pax2 in kidney development and diseases.
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PMID:[The role of Pax2 in regulation of kidney development and kidney disease]. 2195 93

The authors describe the case of a 16-month-old girl who presented with bilateral hydronephrosis and renal failure secondary to bilateral renal pelvic botryoid Wilms' tumour (nephroblastoma). The term 'botryoid' describes an intrapelvic polypoid renal Wilms tumour, either extending from the renal parenchyma or primarily pelvis-based tumour. Both tumours filled the renal pelvis and extended down the proximal ureter, with no intraparenchymal tumour seen. Bilateral intralobar nephrogenic rests were present. Histological examination demonstrated triphasic nephroblastoma, with focal rhabdomyomatous differentiation of the stromal element bilaterally. Postchemotherapy, the patient underwent bilateral nephrectomy. Post complete resection of her bilateral disease, this patient has had an excellent outcome. This is only the third reported case of bilateral botryoid Wilms' tumour. While the condition is extremely rare, it should be included in the differential diagnosis of a young child with bilateral renal pelvic masses.
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PMID:Bilateral botryoid nephroblastoma: a rare cause of renal failure. 2296 73

Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn girl with FA and VL (aplasia of the thumbs, cloacal atresia (urogenital sinus), tethered cord at L3/L4, muscular ventricular septum defect, and horseshoe-kidney with a single ureter) who simultaneously acquired an epithelial-type WT in the left portion of the kidney and a poorly differentiated adrenal NB in infancy. A novel homozygous germline frameshift mutation in PALB2 (c.1676_c1677delAAinsG) leading to protein truncation (pGln526ArgfsX1) inherited from consanguineous parents formed the genetic basis of FA-N. Spontaneous and induced chromosomal instability was detected in the majority of cells analyzed from peripheral lymphocytes, bone marrow, and cultured fibroblasts. Bone marrow cells also showed complex chromosome rearrangements consistent with the myelodysplastic syndrome at 11 months of age. Array-comparative genomic hybridization analyses of both WT and NB showed shared gains or amplifications within the chromosomal regions 11p15.5 and 17q21.31-q25.3, including genes that are reportedly implicated in tumor development such as IGF2, H19, WT2, BIRC5, and HRAS.
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PMID:Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia. 2311 54

Here, we report a new case of botryoid Wilms' tumor, a 4-year-old boy, who was referred to us with a chief complaint of dysuria and gross hematuria. The computed tomography and radical nephroureterectomy showed that a botryoid sarcoma-like appearance occupied the right renal pelvis and extended into the bladder. Histologic examination further confirmed this case was a mixed type of Wilms' tumor. In a word, we demonstrated a rare case of botryoid Wilms' tumor, which extended from the renal pelvis into the ureter and bladder, then some degenerative and necrotic tissue with calcification discharged from urethra. Postoperative adjuvant chemotherapy was executed. At 24-month follow-up, there was no evidence of recurrence.
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PMID:Botryoid Wilms' tumor: a case report and review of the literature. 2368 9

Malignant peripheral nerve sheath tumors (MPNSTs) are nonrhabdomyosarcoma soft tissue sarcomas with rare occurrence in children specially in the retroperitoneum. We describe a young child who presented with an abdominal mass. Both ultrasound and computed tomography revealed a large right-sided abdominal mass in the anatomic place of right kidney, while no kidney or ureter was observed at that side. He underwent surgical resection of the tumor with a primary impression of Wilms tumor. To the authors' knowledge, this is the first case of retroperitoneal malignant peripheral nerve sheath tumor and absent kidney. This case suggests the very rare probability of association of MPNSTs in children with genitourinary tract anomalies such as renal agenesis.
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PMID:Retroperitoneal malignant peripheral nerve sheath tumor replacing an absent kidney in a child. 2439 33

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


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