Wilms' Tumor Blood Test

What is Wilms' tumor?

Wilms' tumor is a rare type of kidney cancer that primarily affects children between ages 3 and 4. It is caused by genetic mutations that lead to overexpression of the IGF-2 gene, resulting in uncontrolled cell growth in the kidney. The IGF-2 blood test is the most important test for identifying the genetic markers associated with this pediatric kidney cancer.

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What causes Wilms' tumor?

Wilms' tumor is caused by genetic mutations that occur during fetal kidney development, leading to abnormal cell growth in kidney tissue. The most common genetic change involves overexpression of the IGF-2 gene, which produces insulin-like growth factor 2, a protein that promotes cell multiplication. In some cases, Wilms' tumor is associated with genetic syndromes like WAGR syndrome, Denys-Drash syndrome, or Beckwith-Wiedemann syndrome, though most cases occur spontaneously without an inherited genetic condition.

What is the best test for Wilms' tumor?

The IGF-2 blood test is the most important genetic marker test for Wilms' tumor because it detects elevated insulin-like growth factor 2 levels that result from overexpression of the IGF-2 gene, which is strongly linked to tumor development. While imaging studies like ultrasound, CT scans, and MRI are essential for diagnosing and staging the tumor, the IGF-2 test provides valuable information about the biological characteristics and genetic factors driving the cancer. This test helps healthcare providers understand the tumor's molecular profile and can guide treatment decisions by identifying patients with specific genetic patterns associated with Wilms' tumor.

When should I get tested for Wilms' tumor?

You should get tested if your child has a swollen or enlarged abdomen, a hard mass you can feel in the belly area, blood in the urine, fever without infection, abdominal pain, or high blood pressure. Children with genetic syndromes like WAGR, Denys-Drash, or Beckwith-Wiedemann syndrome should undergo regular screening since they have a higher risk of developing Wilms' tumor. Testing is also important if there is a family history of kidney cancer or if your child shows unexplained weight loss, loss of appetite, or persistent fatigue combined with abdominal symptoms.

What are the symptoms of Wilms' tumor?
Wilms' tumor symptoms include a noticeable abdominal swelling or lump that you can feel when touching your child's belly, blood in the urine that may appear pink or red, abdominal pain or discomfort, and fever without an obvious infection. Other signs include high blood pressure, loss of appetite, unexplained weight loss, constipation, nausea and vomiting, and general fatigue or lethargy. Many children with Wilms' tumor appear otherwise healthy, which is why a palpable abdominal mass discovered during routine examination is often the first clue to diagnosis.
Who is at risk for Wilms' tumor?
Children between ages 3 and 4 are at highest risk for Wilms' tumor, though it can occur from infancy through age 15. African American children have a slightly higher incidence compared to other ethnic groups, and girls are marginally more affected than boys. Children with genetic conditions including WAGR syndrome, Denys-Drash syndrome, Beckwith-Wiedemann syndrome, or hemihypertrophy face significantly elevated risk. Those born with certain congenital abnormalities affecting the urinary tract, genitals, or experiencing overgrowth conditions also have increased susceptibility, as do children with a family history of Wilms' tumor.
What happens if Wilms' tumor is left untreated?
Untreated Wilms' tumor will continue to grow and spread beyond the kidney to other organs, most commonly the lungs, liver, and lymph nodes. The cancer can metastasize rapidly, making treatment significantly more difficult and reducing survival rates dramatically. As the tumor grows, it can cause kidney failure, severe abdominal complications, uncontrolled high blood pressure, and internal bleeding. Without treatment, Wilms' tumor is fatal, but with proper medical intervention including surgery, chemotherapy, and sometimes radiation, the survival rate exceeds 90 percent for early-stage disease, making early detection and treatment absolutely critical.
Can Wilms' tumor be diagnosed with a blood test?
Wilms' tumor cannot be definitively diagnosed with a blood test alone, as diagnosis requires imaging studies like ultrasound, CT scan, or MRI combined with tissue examination. However, blood tests play an important supporting role by measuring genetic markers like IGF-2 levels, which are often elevated in children with Wilms' tumor due to overexpression of the IGF-2 gene. Blood work also helps assess kidney function, check for anemia, evaluate liver enzymes, and monitor overall health status before and during treatment. Complete blood counts and metabolic panels provide essential information for staging the disease and planning appropriate therapy.
How is Wilms' tumor treated?
Wilms' tumor is treated with a combination of surgery to remove the affected kidney (nephrectomy), chemotherapy to kill cancer cells, and sometimes radiation therapy for more advanced stages. Treatment typically begins with chemotherapy to shrink the tumor, followed by surgical removal of the kidney containing the cancer, and then additional chemotherapy to eliminate any remaining cancer cells. The specific treatment plan depends on the tumor stage, how far it has spread, and the tumor's histology or cell characteristics. Most children with Wilms' tumor respond very well to treatment, with cure rates exceeding 90 percent for favorable-histology tumors caught in early stages.
How can I prevent Wilms' tumor?
Wilms' tumor cannot be prevented because it develops from genetic mutations that occur during fetal development, often before birth. However, children with known genetic syndromes associated with increased Wilms' tumor risk should undergo regular screening with abdominal ultrasounds every three to four months until at least age 7. Parents should be vigilant about routine pediatric checkups where doctors examine the abdomen for unusual masses. While there are no lifestyle factors proven to prevent Wilms' tumor, early detection through screening in high-risk children and prompt medical attention for any concerning symptoms can lead to earlier diagnosis and significantly better treatment outcomes.
What can I do at home to support my child with Wilms' tumor?
At home, focus on providing nutritious meals with adequate protein to support your child's immune system and healing during treatment, keeping them well-hydrated, and ensuring they get plenty of rest between medical appointments. Create a calm, supportive environment that reduces stress and anxiety, maintain as much normal routine as possible to provide emotional stability, and encourage gentle activities that your child enjoys without putting pressure on the abdomen. Coordinate closely with your medical team about medications, side effect management, and warning signs that require immediate attention. Connect with support groups for families dealing with pediatric cancer to share experiences and coping strategies during this challenging time.
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IGF-2
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