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Wilms' tumor or Wilms tumor, also known as nephroblastoma, is a cancer of the that typically occurs in (rarely in ), EBSCO database verified by URAC; accessed from Mount Sinai Hospital, New York and occurs most commonly as a renal tumor in child patients. It is named after Max Wilms, the German surgeon (1867–1918) who first described it. WhoNamedIt.com: Max Wilms
Approximately 650 cases are diagnosed in the U.S. annually. The majority of cases occur in children with no associated genetic syndromes; however, a minority of children with Wilms' tumor have a congenital abnormality. It is highly responsive to treatment, with about 90 percent of children being cured.
Pathologically, a triphasic nephroblastoma comprises three elements:
Wilms' tumor is a malignant tumor containing metanephric blastema, stromal and epithelial derivatives. Characteristic is the presence of abortive tubules and glomeruli surrounded by a spindled cell stroma. The stroma may include striated muscle, cartilage, bone, fat tissue, and fibrous tissue. Dysfunction is caused when the tumor compresses the normal kidney parenchyma.
The mesenchymal component may include cells showing rhabdomyoid differentiation or malignancy ( Wilms).
Wilms' tumors may be separated into two prognostic groups based on pathologic characteristics:
Most cases do not have mutations in any of these genes.
| WAGR syndrome (Wilms tumor, aniridia, genital anomalies, retardation) | Gene deletion that includes both WT1 and PAX6 | 45–60% | Characterized by Wilms tumor, aniridia (absence of iris), hemihypertrophy (one side of body larger than the other), genitourinary abnormalities, ambiguous genitalia, intellectual disability. |
| Denys-Drash syndrome (DDS) | WT1 (exon 8 and 9) | 74% | Characterized by kidney diseases since birth leading to early-onset kidney failure, ambiguous genitalia (intersex disorders). |
| Beckwith-Wiedemann Syndrome | Abnormal regulation of chromosome 11p15.5 | 7% | Characterized by macrosmia (large birth size), macroglossia (large tongue), hemihypertrophy (one side of the body is larger), other tumors in body, omphalocele (open abdominal wall) and Organomegaly (enlargement of organs inside abdomen). |
An association with H19 has been reported.Coorens THH, Treger TD, Al-Saadi R, Moore L, Tran MGB, Mitchell TJ, Tugnait S, Thevanesan C, Young MD, Oliver TRW, Oostveen M, Collord G, Tarpey PS, Cagan A, Hooks Y, Brougham M, Reynolds BC, Barone G, Anderson J, Jorgensen M, Burke GAA, Visser J, Nicholson JC, Smeulders N, Mushtaq I, Stewart GD, Campbell PJ, Wedge DC, Martincorena I, Rampling D, Hook L, Warren AY, Coleman N, Chowdhury T, Sebire N, Drost J, Saeb-Parsy K, Stratton MR, Straathof K, Pritchard-Jones K, Behjati S (2019) Embryonal precursors of Wilms tumor. Science 366(6470):1247-1251 H19 is a long noncoding RNA located on the short arm of chromosome 11 (11p15.5).
Once Wilms' tumor is suspected, an ultrasound scan is usually done first to confirm the presence of an intrarenal mass. A CT scan or MRI scan can also be used for more detailed imaging. Finally, the diagnosis of Wilms' tumor is confirmed by a tissue sample. In most cases, a biopsy is not done first because there is a risk of cancer cells spreading during the procedure. Treatment in North America is nephrectomy or in Europe chemotherapy followed by nephrectomy. A definitive diagnosis is obtained by pathological examination of the nephrectomy specimen.
Tumor-specific loss-of-heterozygosity (LOH) for chromosomes 1p and 16q identifies a subset of Wilms' tumor patients who have a significantly increased risk of relapse and death. LOH for these chromosomal regions can now be used as an independent prognostic factor together with disease stage to target intensity of treatment to risk of treatment failure. Genome-wide copy number and LOH status can be assessed with virtual karyotyping of tumor cells (fresh or paraffin-embedded).
Statistics may sometimes show more favorable outcomes for more aggressive stages than for less aggressive stages, which may be caused by more aggressive treatment and/or random variability in the study groups. Also, a stage V tumor is not necessarily worse than, but nevertheless comparable in prognosis to a stage IV tumor.
| Nephrectomy + lymph node sampling followed by regimen EE-4A |
| Nephrectomy + lymph node sampling followed by regimen EE-4A and radiotherapy |
| Nephrectomy + lymph node sampling followed by abdominal radiotherapy and regimen DD-4A |
| Nephrectomy + lymph node sampling followed by abdominal radiotherapy and regimen I |
| Nephrectomy + lymph node sampling followed by abdominal radiotherapy and regimen DD-4A |
| Preoperative treatment with regimen DD-4A followed by nephrectomy + lymph node sampling and abdominal radiotherapy |
| Preoperative treatment with regimen I followed by nephrectomy + lymph node sampling and abdominal radiotherapy |
| Immediate nephrectomy + lymph node sampling followed by abdominal radiotherapy and regimen I |
| Nephrectomy + lymph node sampling, followed by abdominal radiotherapy, bilateral pulmonary radiotherapy, and regimen DD-4A |
| Immediate nephrectomy + lymph node sampling followed by abdominal radiotherapy, whole-lung radiotherapy, and regimen I |
| Preoperative treatment with regimen I followed by nephrectomy + lymph node sampling followed by abdominal radiotherapy, whole-lung radiotherapy |
| Preoperative treatment with regimen DD-4A, followed by nephron sparing surgery or nephrecomy, staging of tumors, and chemotherapy and/or radiotherapy based on pathology and staging |
| Preoperative treatment with regimen DD-4A, followed by nephron sparing surgery or nephrecomy, staging of tumors, and chemotherapy and/or radiotherapy based on pathology and staging |
| Preoperative treatment with regimen DD-4A, followed by nephron sparing surgery or nephrecomy, staging of tumors, and chemotherapy and/or radiotherapy based on pathology and staging |
In case of relapse of Wilms' tumor, the 4-year survival rate for children with a standard-risk has been estimated to be 80%.
Wilms' tumor affects approximately one person per 10,000 worldwide before the age of 15 years. People of African descent may have slightly higher rates of Wilms' tumor. The peak age of Wilms' tumor is 3 to 4 years and most cases occur before the age of 10 years. A genetic predisposition to Wilms' tumor in individuals with aniridia has been established, due to deletions in the p13 band on chromosome 11.
The use of CT scan for the diagnosis of Wilms' tumor began in the early 1970s, thanks to the intuition of Mario Costici, an Italian physician. He discovered that in the direct radiograms and in the urographic images, determining elements for a differential diagnosis with the Wilms' tumor can be identified. This possibility was a premise for starting a treatment.Nephroblastoma in childhood: current possibilities for an early radiographic diagnosis, Italian Journal of Surgery 1969
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