Nephroblastoma (Wilms tumor)


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Nephroblastoma (Wilms tumor)



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Nephroblastoma (Wilms tumor)

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Nephroblastoma (Wilms tumor)


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Nephroblastoma (Wilms tumor)

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Hematuria p. 620

nephroblastoma p. 624

Wilms tumor p. 624

Nephroblastoma p. 624

Wilms tumor

dactinomycin for p. 447

neuroblastomas vs p. 357

tumor suppressor genes and p. 222


Content Reviewers

Rishi Desai, MD, MPH


Tanner Marshall, MS

Wilms’ tumor, or nephroblastoma, is a type of kidney tumor composed of metanephric blastemal cells, cells involved in kidney development, and is the most common malignant kidney tumor in children; only rarely is it seen in adults.

Wilms’ tumor is thought to be caused by mutations in genes responsible for normal genitourinary development, which includes the kidneys as well as the gonads, typically the genes are located around 11p13—which means chromosome 11, the short arm p, region 1, band 3.

One gene critical for normal kidney and gonad development is WT1 (or Wilms’ Tumor 1), which a tumor suppressor gene.

Mutations that result in a “loss of function” of WT1, like deletions, for example, seem to lead to the development of tumor cells seen with Wilms’ tumor.

Wilms’ tumors as a result of WT1 mutations are sometimes part of a developmental syndrome, meaning other abnormalities are present as well, likely because of deletion or mutation of other genes in addition to WT1.

For example, in WAGR syndrome, a mutation in the 11p13 region causes deletion of both WT1 and the PAX6 genes, among others, which leads to Wilms’ tumor and Genitourinary malformations as a result of WT1 deletion, as well as Aniridia (which is absence of iris) and intellectual disability (which is formerly referred to as mental Retardation), as a result of PAX6 deletion.

Another syndrome associated with WT1 mutations is Denys-Drash syndrome, which is characterized by Wilms tumor, early-onset nephrotic syndrome, and male pseudohermaphroditism.

Another gene, WT2, also located on chromosome 11, seems to also be involved with other Wilms’ tumor-containing syndromes, like Beckwith-Wiedemann syndrome, which includes Wilms’ tumor, macroglossia, organomegaly, and hemihypertrophy.


Wilms tumor, also known as nephroblastoma, is a type of kidney cancer that occurs in children. It is common in children under the age of 5, with the majority of cases occurring in children under the age of 3. Wilms tumors tend to be encapsulated and vascularized, and do not cross the midline of the abdomen.

The common symptom of Wilms' tumor is often a painless abdominal growth. However, it may present with abdominal pain and swelling, hematuria, and can metastasize to other organs such as the lungs, the liver, and bones. Nephroblastoma is usually treated with surgery to remove the tumor and, in some cases, chemotherapy and/or radiation therapy.


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  5. "Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference" Pediatric Neurology (2013)
  6. "The Differential Imaging Features of Fat-Containing Tumors in the Peritoneal Cavity and Retroperitoneum: the Radiologic-Pathologic Correlation" Korean Journal of Radiology (2010)
  7. "Transcatheter Arterial Embolization in Patients with Kidney Diseases: an Overview of the Technical Aspects and Clinical Indications" Korean Journal of Radiology (2010)

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