Cases reported "Wilms Tumor"

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1/11. A novel WT1 gene mutation associated with wilms' tumor and congenital male genitourinary malformation.

    WT1 is located on the short arm of human chromosome 11 and consists of 10 coding exons. Mutations of this gene have been reported to be the cause of Wilms' tumor, congenital male genitourinary malformations, and/or renal disorders. We describe here a novel WT1 gene mutation, i.e. a point mutation at intron 7 ( 2) in both the tumor and the germline cells of a patient with Wilms' tumor and congenital male genitourinary malformation, but without renal disorder. The position of the mutation is at a splice donor site of intron 7, which causes the splicing out of exon 7 and generates a truncated protein. This type of mutation in the WT1 zinc finger domain has not been reported before. The mutation is of paternal origin and is heterozygous in the germline cells. In the tumor cells, however, the maternal allele is largely lost, from 11p12 to 11p15, which results in maternal loss of heterozygosity. These results, together with the data from previous reports, suggest that WT1 may function in gonadogenesis, nephrogenesis, and Wilms' tumor tumorigenesis.
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keywords = tumorigenesis
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2/11. Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants.

    Five infants (two girls and three boys) from four families all had severe pre- and postnatal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and developed uncontrollable clonic seizures. Four infants developed Wilms tumors, and one showed cystic lesions in bilateral kidneys. All five infants showed variegated mosaic aneuploidy in cultured lymphocytes. In two infants whose chromosomes were prepared by us, 48.5%-83.2% lymphocytes showed total premature chromatid separation (PCS). Their parents had 3.5%-41.7% of their lymphocytes in total PCS. The remaining three infants and their parents, whose chromosomes were prepared at outside laboratories, tended to show lower frequencies of total PCS. Another five infants reported with the disorder were reviewed together with the five infants we described. Together, their clinical and cytogenetic manifestations were similar enough to suggest a syndrome. Seven of the 10 infants developed proven or probable Wilms tumors. The age at diagnosis of the tumors was younger than usual at 2-16 months. The tumors were bilateral in four infants and unilateral in three infants, and cystic changes were present in six infants. Two infants developed botryoid rhabdomyosarcoma. The carriers of the syndrome are thus liable to tumorigenesis. The possible role of mitotic checkpoint defects, proven in two infants with the syndrome (Matsuura et al. [2000: Am J Hum Genet 69:483-486]), was discussed in connection with tumor development and progression.
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keywords = tumorigenesis
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3/11. Incidentally detected nephrogenic rests in the setting of congenital obstructive uropathy.

    PURPOSE: Nephrogenic rests (NR) are clusters of cells similar to renal blastema. NR are frequently seen in kidneys with Wilms' tumor (WT) and are seen with higher frequency in nephrectomy specimens from obstructed and/or multicystic dysplastic kidneys (MCDK) compared to autopsy series of normal kidneys. The significance of NR and their role in tumorigenesis is largely unknown. We report the findings of two cases with NR associated with ureteral ectopy/obstruction and review the relevant literature. MATERIALS AND methods: Two cases of upper pole heminephrectomy associated with ectopic upper pole ureter and resultant hydronephrosis were found to have nephrogenic rests present on pathologic examination. A literature search was done to review recent developments in the understanding of NR and their significance, primarily to guide patient recommendations regarding follow-up. RESULTS: Recent developments in the understanding of NR include the description of intralobar versus perilobar nephrogenic rests and prognostic considerations associated with each. However, the implications of finding nephrogenic rests in upper pole hemi-nephrectomy specimens associated with ureteral ectopy is not well delineated. CONCLUSIONS: The role of NR in tumorigenesis is still poorly understood. Because of the still undefined relationship with WT we recommend patients with incidentally detected NR be followed with serial abdominal ultrasounds for the first 5 years of life.
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keywords = tumorigenesis
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4/11. Characterization of a wilms tumor in a 9-year-old girl with trisomy 18.

    This is a report of a trisomy 18 patient who developed wilms tumor in conjunction with perilobar nephroblastomatosis (NB) at 9 years and 5 months of age. review of the literature revealed that most patients with trisomy 18 who develop wilms tumor, do so at a later than expected age for a tumor related to NB, and are females. In this case, no chromosome 11 WT1 mutation was detected by PCR/SSCP analysis, but the tumor had in addition to the trisomy, an isochromosome 7q and loss of heterozygosity at 16q, two mutations that have been linked independently to Wilms tumorigenesis.
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5/11. gene expression profiling of mesoblastic nephroma and Wilms tumors--comparison and clinical implications.

    OBJECTIVES: To better understand the molecular mechanisms in the tumorigenesis and progression of mesoblastic nephroma (MN), we studied its gene expression profiles. MN is the most common tumor of the neonatal kidney. It occurs in a younger age group than the wilms tumor (WT). To date, very little is known about the etiology and pathogenesis of MN. methods: Using microarrays containing 22,943 cDNA, we analyzed the expression profiles of MN and compared its expression profiles with those of several other types of kidney tumors, including WT. RESULTS: MN has a distinct molecular signature that clusters close to the WT, suggesting that both types of tumor share some similarity in gene expression and biology. When comparing the two profiles closely, we identified a number of genes that are commonly upregulated in both tumors, including insulin-like growth factor 2, thrombospondin 4, and mesenchyme homeo box 1. We also identified a set of genes that distinguish MN from WT, some of which may underlie the difference in their behaviors and can be used as diagnostic markers. Among this group of genes, topoisomerase II-alpha, highly expressed in WTs, is not overexpressed in MN. Immunohistochemical staining of topoisomerase II-alpha in additional cases of WTs and MNs confirmed this distinction further. CONCLUSIONS: The results of our study demonstrated that MN has a distinct gene expression profile and that some of the newly identified genes can be potentially used as novel diagnostic markers.
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keywords = tumorigenesis
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6/11. Novel familial WT1 read-through mutation associated with wilms tumor and slow progressive nephropathy.

    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.
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keywords = tumorigenesis
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7/11. loss of heterozygosity in non-tumoral tissue in two children with beckwith-wiedemann syndrome.

    The insulin-like growth factor ii (IGF-II) gene has been analysed by Southern blotting in healthy and tumor tissue in two children with beckwith-wiedemann syndrome, using the enzymes, AvaII and SacI. loss of heterozygosity was determined not only in the dna of a nephroblastoma, but also in the healthy kidney, leukocytes and fragments of tongue removed for obstructive macroglossia. Allele loss therefore seems to be sufficient to provoke tumorigenesis in some tissues, but not in others.
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keywords = tumorigenesis
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8/11. Developmental genetics of neuroblastoma.

    case reports of neuroblastoma revealed that some individuals are genetically predisposed and that this genetic predisposition may have other consequences. According to a mutation model, two classes of individuals could acquire neuroblastoma. One (prezygotic) was a rare class that carried a dominant gene imparting high risk of the tumor. The other (postzygotic) comprised all other individuals, each at low risk. The model related tumor incidence to germinal and somatic mutation rates and thereby carried implications for environmental modification of tumorigenesis and demographic variation in incidence. case reports also revealed associations of neuroblastoma with congenital defects and a susceptibility to second tumors. Analogy with retinoblastoma and Wilms' tumor of the kidney suggested that these associations could result from action of a neuroblastoma gene or from chromosomal aberration. One known dominantly inherited condition, von Recklinghausen's disease, could dispose to neuroblastoma and create some associations. According to the two-mutation model, neuroblastoma may have been a single recessive gene disorder at the level of the cell. The phenomena of aganglionosis, neuroblastoma in situ, maturation of neuroblastoma to ganglioneuroma, and spontaneous regression suggested that such a neuroblastoma gene interfered with normal developmental processes. The specificities of this gene and of those for von Recklinghausen's disease and pheochromocytoma suggested that the functiof a membrane macromolecule.
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ranking = 1
keywords = tumorigenesis
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9/11. Nephroblastomatosis and deletion of 11p. The potential etiologic relationship to subsequent Wilms' tumor.

    Both nephroblastomatosis and deletions of the short arm of chromosome 11 (11p-) have been associated independently with Wilms' tumor. The finding of 11p- in a specimen of nodular renal blastema in the currently described patient represents a previously unknown association with this chromosomal lesion. The possibility that 11p- produced an abnormal renal substrate (nephroblastomatosis), upon which the action of a second postzygotic genetic alteration led to Wilms' tumor, is considered. It is suggested that, in the present case, tumorigenesis may have been the result of two postzygotic events, one of which may have been postnatal. Recent cytogenetic observations in both Wilms' tumor and retinoblastoma support such an hypothesis.
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ranking = 1
keywords = tumorigenesis
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10/11. Molecular genetic analysis of chromosome 11p in familial Wilms tumour.

    In the family reported here, a mother and both of her children developed a Wilms tumour, and all three tumours were of the relatively rare monomorphous epithelial histopathological subtype. Using restriction fragment length polymorphism analysis, both sibs were shown to inherit the same maternal allele from the 11p13 region but different maternal alleles from the 11p15 region. Using a combination of single-strand conformation polymorphism (SSCP) and polymerase chain reaction (PCR) sequencing techniques, no mutations were identified in the WT1 tumour-suppressor gene from the 11p13 region, but a novel polymorphism was identified in exon 1. mRNA expression studies using the insulin-like growth factor ii (IGF-II) gene, located in 11p15, showed that there was no relaxation of imprinting at this locus. There was also no evidence of loss of heterozygosity on the long arm of chromosome 16. These findings indicate that the WT1 and IGF-II genes, together with the long arm of chromosome 16, are not directly implicated in tumorigenesis in this Wilms family, but that a recombination event has occurred on the short arm of chromosome 11.
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ranking = 1
keywords = tumorigenesis
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