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Disease Profile

Wilms’ tumor

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Childhood

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ICD-10

C64

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Nephroblastoma; WT1; Bilateral Wilms tumor

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Rare Cancers

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 654

Definition
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.

Epidemiology
The annual incidence is estimated at about 1/10,000 births and it affects boys as well as girls.

Clinical description
Nephroblastoma mainly affects young children, between the ages 1 and 5 years, but 15% of nephroblastomas occur before the age of 1 year and 2% after the age of 8 years. Adult forms are very rare. An abdominal mass (unilateral in most cases) is frequently present. Patients sometimes experience abdominal pain (around 10% of cases), hypertension, fever (20% of cases), hematuria and anemia. The evolution of the disease is very rapid, with regional dissemination in the retroperitoneal space, lymph nodes, vessels (renal vein and inferior vena cava) and in the peritoneal cavity in cases of tumor effraction, and a strong likelihood of metastases in the lungs and liver.

Etiology
Nephroblastoma is sporadic in 99% of cases and, among these cases, 10% are associated with congenital anomalies (aniridia, hemihypertrophy, genitourinary defects) or form part of specific syndromes (Beckwith-Wiedemann, Denys-Drash, WAGR or Perlman syndromes; see these terms). Genetic anomalies found in different chromosomal regions, including 11p13 (containing the WT1 gene), 11p15.5 (containing the H19 gene), 16q, 1p, 1q and 17p, have been found within the tumors. Familial forms are very rare (1% of cases) and are transmitted in an autosomal dominant fashion.

Diagnostic methods
Diagnosis is based on imagery, particularly CT or MRI scans. The concentration of urinary metabolites of catecholamines is normal. Analysis of the extent of the disease is also conducted using imagery (ultrasound and abdominal CT analyzing particularly the liver and contralateral kidney, and thoracic radiography and CT).

Differential diagnosis
Differential diagnoses include other renal tumors in children such as mesoblastic nephroma (especially in infants), clear cell sarcoma, neuroblastoma (extremely rare in the kidney but may invade the kidney by contiguity), rhabdoid tumors (see these terms) and metanephric stromal tumors.

Management and treatment
Disease management is multidisciplinary and may involve chemotherapy and surgery with or without radiotherapy. Chemotherapy enables preoperative reduction in tumor size and eradicates metastases. Surgery should be accomplished without tumor effraction, which usually means that total nephrectomy is required. Nephroblastoma can be confirmed on microscopic examination, which also allows the stage of the tumor in the kidney to be evaluated. This in turn determines the choice of post-operative chemotherapy. Radiotherapy is reserved for the most extensive cases or cases with the least favorable histology.

Prognosis
In the majority of cases, the prognosis is favorable with a survival rate of over 90%. Adult forms have the same prognosis and should be treated following the same methods, even when adult patients tolerate chemotherapy less well than children (which may lead to a reduction in treatment and as a result a worse prognosis).

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Nephroblastoma
0002667
5%-29% of people have these symptoms
Aniridia
Absent iris
0000526
Fever
0001945
Hematuria
Blood in urine
0000790
Hypertension
0000822
Lymphadenopathy
Swollen lymph nodes
0002716
Neoplasm of the liver
Liver cancer
Liver tumor

[ more ]

0002896
Neoplasm of the lung
Lung tumor
0100526
Weight loss
0001824
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Somatic mutation
0001428

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Wilms' tumor. Click on the link to view a sample search on this topic.