Loss of imprinting at insulin-like growth factor II (IGFII), in association with H19 silencing, has been described previously in a subgroup of Beckwith-Wiedemann syndrome (BWS) patients who have an elevated risk for Wilms' tumor. An equivalent somatic mutation occurs in sporadic Wilms' tumor. We describe a family with overgrowth in three generations and Wilms' tumor in two generations, with pat...

The Wilms tumor-suppressor gene, WT1, plays a key role in urogenital development, and WT1 dysfunction is implicated in both neoplastic (Wilms tumor, mesothelioma, leukemias, and breast cancer) and nonneoplastic (glomerulosclerosis) disease. The analysis of diseases linked specifically with WT1 mutations, such as Denys-Drash syndrome (DDS), can provide valuable insight concerning the role of WT1...

INTRODUCTION Wilms tumor is one of general solid cancers that occur in children, which carries a death rate of 7-8 in a million. The cure rate of Wilms tumor in the recent 30 years has dramatically been improved, but a proper remedy is still not prepared enough in terms of application in tumor therapy upon recurrence after radiotherapy, surgery and chemotherapy. We present an integrative medica...

We have prospectively analyzed Wilms' tumors from 232 patients registered on the National Wilms' Tumor Study for loss of heterozygosity (LOH) on chromosomes 11p, 16q, and 1p. These chromosomal aberrations were found in 70 (33%), 35 (17%), and 21 (12%) of the informative cases, respectively. LOH for two of these regions occurred in only 25 cases, and only one tumor harbored LOH at all three site...

A 20-month-old female presented with a palpable abdominal mass. Imaging revealed bilateral renal masses and pulmonary nodules. The genetic evaluation identified de novo 540kb X-chromosome deletion involving GPC3, PHF6, HPRT1, highly skewed X-inactivation (100:0). This clinical picture was suggestive of Wilms’ tumor in the setting Simpson-Golabi-Behmel Syndrome.

background: the wilms tumor 1 (wt1) gene is originally defined as a tumor suppressor gene and a transcription factor that overexpressed in leukemic cells. it is highly expressed in more than 80% of acute myeloid leukemia (aml) patients, both in bone marrow (bm) and in peripheral blood (pb), and it is used as a powerful and independent marker of minimal residual disease (mrd);we have determined ...

PURPOSE Perilobar nephrogenic rests (PLNRs) are abnormally persistent foci of embryonal immature blastema that have been associated with dysregulation at the 11p15 locus by genetic/epigenetic means and are thought to be precursor lesions of Wilms tumor. The precise genomic events are, however, largely unknown. EXPERIMENTAL DESIGN We used array comparative genomic hybridization to analyze a se...

On the search for a genetic cause 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants found in 4th zinc finger (ZF4) of Wilms tumor 1 gene (WT1). Modelling these human granulosa cells and mice recapitulated phenotype.

Wilms' tumor (WT) accounts for 90% of all pediatric renal malignant tumors. The most common postoperative complication based on the National Wilms' Tumor Study is small bowel obstruction. We report on a 2-year-old girl with postoperative bowel obstruction following a right nephrectomy for WT. The patient was reintervened 48 hours after surgery and a cecal volvulus was found. Here, we will descr...