Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Wilms’ Tumor

Also called nephroblastoma.

What is Wilms’ Tumor?

• Wilms’ tumor is a rare cancer that impacts the kidneys.
• The vast majority of cases occur in children, but adults can get this cancer too.
• This disease responds well to treatment in most cases.
• Wilms’ tumor is named after Max Wilms, who was a German surgeon that first described the illness.
• In the US, around 650 cases are diagnosed each year.
• This is a malignant tumor that contains metanephric blastema, an embryologic structure that plays a role in the formation of the kidney.
• Patients often first present with an asymptomatic abdominal mass, which may be noticed by a family member or a physician.

How Do You Get it?

• Wilms’ tumor has a diverse array of possible causes
• While most cases occur in children without a genetic syndrome, the disease is also associated with certain congenital abnormalities. Some example include:
  • Denys-Drash syndrome
  • Beckwith-Wiedemann syndrome
  • WAGR syndrome (Wilms’ tumor, aniridia, genital anomalies, retardation)
  • In these syndromes, the tumor takes place as a result of genetic alterations affecting the Wilms Tumor 1 (WT1) and Wilms Tumor 2 (WT2). These syndromes also present with their own array of additional signs and symptoms that are not present in non-syndromic Wilms’ tumor.

What Are The Symptoms?

• Signs and symptoms that are found in most cases of Wilms’ tumor include:
  • A palpable, yet painless abdominal mass
  • Varicocele
    • Unusual enlargement of the pampiniform venous plexus in the scrotum (rare).
  • Loss of appetite
  • High blood pressure (more common with dual kidney involvement)
  • Abdominal pain
  • Blood in the urine (in about 20 percent of cases)
  • Fever
  • Nausea and vomiting
• Other symptoms may be present in cases associated with a genetic syndrome.

How Is It Treated?

• Wilms’ tumor can normally be treated effectively; the five year survival rate is around 90 percent.
• Early surgical removal usually leads to the best outcomes
• Prognosis depends greatly on individual staging and treatment
• Patients with tumor specific loss-of-heterozygosity in chromosomes 1p and 16q is linked to a greater risk of death and increased risk of relapse
• Treatment usually requires the removal of the affected kidney or both kidneys when both are affected. In less serious cases, only a portion of the kidney may be removed. Sometimes surrounding tissue may be removed as well.
• 90 percent of cases can be cured
• Other treatments include chemotherapy and radiation therapy.

Where Can I Learn More???

• Check out our cornerstone on this disease here.
• Learn more about this condition from the Wilms Cancer Foundation.