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Wilms' tumor or Wilms tumor, [3] also known as nephroblastoma, is a cancer of the kidneys that typically occurs in children (rarely in adults), [4] and occurs most commonly as a renal tumor in child patients. [5] [6] It is named after Max Wilms, the German surgeon (1867–1918) who first described it. [7]
Bilateral kidney tumors, concurrent birth defects, and/or metastatic disease at presentation favor a diagnosis of Wilms tumor. [ 6 ] congenital infantile sarcoma is a rare aggressive sarcoma typically presenting in the lower extremities, head, or neck of infants during their first year of life.
Inactivation of WT1 causes Wilms tumour, and Denys-Drash syndrome (DDS), leading to nephropathy and genital abnormalities. The WT1 protein has been found to bind a host of cellular factors, e.g. p53, a known tumor suppressor. [7] [12] [13] [14] Despite the name, WT1 mutation is found in only about 5-10% of Wilms Tumor cases. [15]
Malignant rhabdoid tumour (MRT) is a very aggressive form of tumour originally described as a variant of Wilms' tumour, which is primarily a kidney tumour that occurs mainly in children. MRT was first described as a variant of Wilms' tumour of the kidney in 1978. [1] MRTs are a rare and highly malignant childhood neoplasm.
The cause of DDS is most commonly (96% of patients) an abnormality in the WT1 gene (Wilms tumor suppressor gene). These abnormalities include changes in certain exons (9 and 8) and mutations in some alleles of the WT1 gene. Genetically, the syndrome is due to mutations in the Wilms tumor suppressor gene, WT1, which is on chromosome 11 (11p13 ...
Metanephric adenoma (MA) is a rare, benign tumour of the kidney, that can have a microscopic appearance similar to a nephroblastoma (Wilms tumours), [1] or a papillary renal cell carcinoma. It should not be confused with the pathologically unrelated, yet similar sounding, mesonephric adenoma .
For this reason, the immunodetection of PAX8 is widely used for diagnosing primary and metastatic renal tumors. Re-activation of PAX8 (or Pax2) expression has been reported in pediatric Wilms Tumors, almost all subtypes of renal cell carcinoma, nephrogenic adenomas, ovarian cancer cells, bladder, prostate, and endometrial carcinomas. [9]
WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms' tumour (a tumour of the kidneys), aniridia (absence of the coloured part of the eye, the iris), genitourinary anomalies, and mental retardation. [1]