NORD gratefully acknowledges Puja Darji, NORD Editorial Intern from the Massachusetts College of Pharmacy and Health Sciences, and Jennifer H. Aldrink, MD, FACS, FAAP, Associate Professor of Clinical Surgery and Pediatrics, The Ohio State University College of Medicine, Division of Pediatric Surgery, Director of Surgical Oncology, Nationwide Children's Hospital, for assistance in the preparation of this report.
Wilms’ tumor is a type of kidney cancer that occurs in young children. It is responsible for 95% of all malignant kidney tumors in patients under the age of 15 years old. Wilms’ tumor can occur in one kidney (unilateral) or in both kidneys (bilateral) and can spread throughout the rest of the body. There are about 650 new cases diagnosed each year in the United States with the average age of diagnosis being 2 to 5 years of age.
Young children with Wilms’ tumor often show no signs or symptoms. The first sign seen in patients with Wilms’ tumor is a large lump in the abdomen, also known as a mass, associated with abdominal pain and swelling. Most parents may not notice the mass until it is large enough to be felt when bathing or dressing the child. Other symptoms are more common in older children and may include pain, anemia, fever, blood in the urine, nausea or vomiting or both, constipation, loss of appetite, shortness of breath and high blood pressure. There may be severe abdominal pain if the tumor ruptures.
There are 5 stages of Wilms’ Tumor:
Stage I indicates that the tumor stayed in the kidney without spreading outside the renal capsule showing no vascular invasion. This is the most common stage of Wilms’ tumor accounting for 40% to 45% of all Wilms’ tumors.
Stage II is when the tumor is confined to the kidney but involves the capsule around the kidney or the collecting system of the kidney. The tumor is still surgically removable since it is centralized to the kidney This stage accounts for 20% of Wilms’ tumors.
Stage III indicates that the tumor has spread beyond the kidney. The margins of resection may contain tumor cells; the cancer may have spread to regional lymph nodes near the kidney or along the aorta or inferior vena cava. In addition, tumor that is spilled from the mass, either by biopsy or tumor rupture is also included in stage III.
Stage IV tumors are those that have spread through the vascular system. The tumor has spread through the blood to organs such as the lungs, liver, brain, or bones. These account for about 10-15% of all Wilms’ tumors.
Stage V are those cases where both kidneys have tumors at the time of initial diagnosis. About 5-10% of all Wilms tumors are at this stage.
Kidneys start developing as the fetus grows in the womb. At about 3 years of age kidney cells become mature, however, in children with Wilms’ tumor, not all kidney cells mature. These immature kidney cells begin to cluster into a mass that grows out of control leading to a tumor in the kidney.
Changes (mutations) in several genes are known to cause Wilms’ tumor. The WT1 or WT2 genes on chromosome 11, WTX gene and the AMER1 gene on the X chromosome, as well as the CTNNB1 gene on chromosome 3 are genes that are deleted or altered in patients presenting with Wilms’ tumor. These genes signal cells for growth and cell division but mutations in these genes can lead to overgrowth of certain body tissues. The reason for the changes in these genes is not known.
Some children have an underlying condition that is associated with Wilms’ tumor. One of the syndromes that has been linked to Wilms’ tumor is WAGR syndrome. Approximately 50% of children with WAGR syndrome will develop Wilms’ tumor. WAGR syndrome is a disorder that affects many body systems such as the eyes, the brain, and the genitourinary system. One of the first effects seen with WAGR syndrome is on the eye. Many people have what’s called aniridia which is an absence in the colored part of the eye, the iris. This can reduce sharpness in vision and increased sensitivity to light. Although the effects in the genitals and urinary tract happen in both genders, it is more common in males. WAGR syndrome can also have a negative impact on the brain leading to intellectual disability. An affected person may experience difficulty in processing, learning, and properly responding to information. (For more information on this condition, search for “WAGR” in the Rare Disease Database.)
Other syndromes that increase the likelihood of getting Wilms’ tumor are Denys-Drash syndrome which is where the kidneys stop working in children at a very young age, Beckwith-Wiedemann syndrome where internal organs and limbs of children are enlarged, and Frasier syndrome where scar tissues form within the small blood vessels in the kidney resulting in kidney failure. All related syndromes that increase the probability of a child getting Wilms’ tumor also have some alteration of the WT1 gene as well.
There are other risk factors or possible reasons for an increased risk of getting Wilms’ tumor such as having a family history. A family history of Wilms’ tumor is sometimes associated with mutations in other genes different from the ones listed above. The genetic mutations occur on chromosomes 16q and 1p and if the child has loss of heterozygosity, or LOH, meaning a loss of one of two copies of a chromosomal region, then the patient will be at a much higher risk.
Wilms’ tumor is the most common pediatric kidney cancer, and the fourth most common pediatric cancer overall. Wilms’ tumor affects approximately 1 in 10,000 children with the median age of onset being 3.5 years. Girls are slightly more likely than boys to develop Wilms’ tumor and African Americans are also at a higher risk.
To diagnose Wilms’ tumor the doctor will first take a full medical history of all past and present conditions, medications, and family history. The doctor will then perform a physical examination. If the doctor is suspicious of Wilms’ tumor, he or she may obtain an ultrasound of the abdomen and/or kidneys to define where the mass is coming from.
There is also a CT scan which stands for computed tomography. A CT scan may provide detailed cross-sectional images of parts of the patient’s body, such as the kidneys. In a CT scan the patient has to lie very still on their back for the scans to come out clear. It is helpful for checking whether a cancer has grown into nearby veins or has spread to organs beyond the kidney. A CT scan may be useful in identifying a clot or tumor extension into the renal vein. If the cancer has spread to other organs in the patient’s body, then it is known to have metastasized (Stage IV).
Another useful imaging test to diagnose Wilms’ tumor is a magnetic resonance imaging scan otherwise known as a MRI scan which uses no radiation but rather radio waves and strong magnets. An MRI may be useful to perform if the cancer spreads to other organs. Wilms’ tumor most commonly spreads to the lungs or the liver, both of which are able to be identified with a CT scan.
Lab tests also might be done to check urine and blood samples if the doctor suspects a kidney problem.
Staging and Treatment
Therapy depends on the stage of the tumor as well as if the patient has a family history of Wilms’ tumor. The most common treatment for Wilms’ tumor is unilateral nephrectomy which is the surgical removal of the affected kidney, and regional lymph node sampling. Chemotherapy drugs such as vincristine, dactinomycin, doxorubicin, cyclophosphamide, etoposide and carboplatin are used; however, vincristine and dactinomycin are used for lower stage (I and II) disease. Depending on the severity of the disease, a combination of these drugs may be used for aggressive treatment. Radiation after surgery may also be considered depending on tumor histology and extent of spread.
Surgery is typically the treatment plan for children with stage I and stage II disease. Following recovery after surgical resection of the tumor, patients continue treatment with systemic chemotherapy based upon stage and pathology. However, if the tumor is found to have LOH of both chromosomes 1p and 16q, more aggressive therapy may be indicated.
Stage IV of the disease is considered to be metastatic meaning the cancer has spread throughout the patient’s body, most often to the lungs. Systemic therapy and radiation therapy to the lungs is dependent upon treatment response of the pulmonary metastases. Children with bilateral Wilms’ tumor will be given doxorubicin, vincristine and dactinomycin prior to surgery in hopes to shrink the tumor and preserve as much renal tissue as possible.
With increasing new therapies such as chemotherapy the survival rate for Wilms’ tumor in the United States over 5 years is excellent at 92%.
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Aldrink JH, Heaton TE, Dasgupta R, et al. Update on Wilms tumor. J Pediatr Surg. 2019;54(3):390-397.
Bahrami A, Joodi M, Maftooh M, et al. The genetic factors contributing to the development of Wilm’s tumor and their clinical utility in its diagnosis and prognosis. J Cell Physiol. 2018;233(4):2882-2888.
Caldwell BT, Wilcox DT, Cost NG. Current Management for Pediatric Urologic Oncology. Adv Pediatr. 2017;64(1):191-223.
Charlton J, Irtan S, Bergeron C, Pritchard-jones K. Bilateral Wilms tumour: a review of clinical and molecular features. Expert Rev Mol Med. 2017;19:e8.
Davidoff AM. Wilms tumor. Adv Pediatr. 2012;59(1):247-67.
Wilms tumor. Genetics Home Reference. NIH. U.S. National Library of Medicine. Reviewed September 2018. https://ghr.nlm.nih.gov/condition/wilms-tumor Accessed May 4, 2019.
Frasier syndrome. Genetics Home Reference. NIH. U.S. National Library of Medicine. Reviewed March 2013. https://ghr.nlm.nih.gov/condition/frasier-syndrome Accessed May 4, 2019.
WAGR syndrome. Genetics Home Reference. NIH. U.S. National Library of Medicine. Reviewed December 2014. https://ghr.nlm.nih.gov/condition/wagr-syndrome Accessed May 4, 2019.
Trout K. W. Wilms Tumor. WAGRORG. Published February 2015 http://wagr.org/about-wagr/what-is-wagr-syndrome/w-wilms-tumor-2/
Accessed May 4, 2019.
Wilms Tumor and Other Childhood Kidney Tumors Treatment. National Cancer Institute. Updated: April 22, 2019. https://www.cancer.gov/types/kidney/patient/wilms-treatment-pdq Accessed May 4, 2019.
Wilms Tumor Stages. American Cancer Society. Last Revised: October 17, 2018. https://www.cancer.org/cancer/wilms-tumor/detection-diagnosis-staging/staging.html
Accessed May 4, 2019.
Key Statistics for Wilms Tumors. American Cancer Society. Last Revised: October 17, 2018 https://www.cancer.org/cancer/wilms-tumor/about/key-statistics.html Accessed May 4, 2019.
What Causes Wilms Tumors? American Cancer Society. Last Revised: October 17, 2018. https://www.cancer.org/cancer/wilms-tumor/causes-risks-prevention/what-causes.html Accessed May 4, 2019.
Wilms Tumor. Childhood. Introduction. Cancer.Net. 02/2018. https://www.cancer.net/cancer-types/wilms-tumor-childhood/introduction
Accessed May 4, 2019.
Wilms Tumor – Childhood – Statistics. Cancer.Net. 01/2019. https://www.cancer.net/cancer-types/wilms-tumor-childhood/statistics Accessed May 4, 2019.
Rhabdoid Tumor. Dana. https://www.dana-farber.org/rhabdoid-tumor/ Accessed May 4, 2019.
Leslie SW, Murphy PB. Cancer, Wilms (Nephroblastoma) [Updated 2019 Mar 24]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK442004/ Accessed August 28, 2019.
Dome JS, Huff V. Wilms Tumor Predisposition. 2003 Dec 19 [Updated 2016 Oct 20]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1294/ Accessed August 28, 2019.
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