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Extrarenal Rhabdoid Tumor (ERRT)

Article
Kids' Zone
Diseases & Conditions
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Contributed byKrish Tangella MD, MBANov 05, 2019

What are the other Names for this Condition? (Also known as/Synonyms)

  • ERRT (Extrarenal Rhabdoid Tumor)
  • Malignant Extrarenal Rhabdoid Tumor (MERT)
  • MERT (Malignant Extrarenal Rhabdoid Tumor)

What is Extrarenal Rhabdoid Tumor? (Definition/Background Information)

  • Extrarenal Rhabdoid Tumor (ERRT) is an extremely infrequent, aggressive, and high-grade tumor. The tumor is usually observed in infants and very young children
  • ERRT affects any region outside of the kidneys (hence the term ‘extrarenal’), like the liver, central nervous system (CNS), and heart
  • Defects on chromosome 22 are linked to the tumor development. The tumor is composed of rod-shaped (rhabdoid) tumor cells, when examined under a microscope
  • Chemotherapy and to some extent surgery is used to treat the tumor. Radiation therapy may cause certain adverse effects in young children, and so, is not commonly used
  • ERRT cancer, which affects the soft tissues, is a highly malignant and often fatal illness. The survival rate is very low, especially when children below the age of 2 years are diagnosed with the cancer

Who gets Extrarenal Rhabdoid Tumor? (Age and Sex Distribution)

  • Infants and young children below the age of 5 years, are normally affected by Extrarenal Rhabdoid Tumor
  • Seldom, older children and young adults, have been found to be affected with this condition
  • No gender, ethnic, or racial predominance has been observed

What are the Risk Factors for Extrarenal Rhabdoid Tumor? (Predisposing Factors)

Risk factor of Extrarenal Rhabdoid Tumor includes:

  • Some genetic predilection is observed
  • Individuals having had close family members with ERRT could be at risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Extrarenal Rhabdoid Tumor? (Etiology)

  • Cell study and genetic analysis have implicated certain anomalies in chromosome 22. Such anomalies include a loss of genetic material and gene mutation. These gene abnormalities are primary factors responsible for Extrarenal Rhabdoid Tumor development
  • The genetic mutation may be inherited from parents, or it may develop spontaneously, due to environmental factors after birth

What are the Signs and Symptoms of Extrarenal Rhabdoid Tumor?

Signs and symptoms of Extrarenal Rhabdoid Tumor depend on the child’s age and body part, where tumor is located. The locations include liver, thymus, heart, prostate gland, chest, pelvis, limbs, and abdomen. The presentations might include:

  • Lethargy and tiredness
  • Headache, vomiting
  • Cranial nerve palsy, abnormal tilting of head
  • Paralysis of arm, leg, and trunk; on one side or, one half of the body (hemiplegia)
  • Unsteady walking posture, loss of balance (ataxia)
  • High blood pressure (hypertension)

How is Extrarenal Rhabdoid Tumor Diagnosed?

Diagnostic tests vary, based upon the location of the tumor. Normally at diagnosis, in a significant number of individuals, the tumor might have already metastasized to other body parts. A differential diagnosis is usually considered by the healthcare provider, to confirm Extrarenal Rhabdoid Tumor, as it significantly overlaps in appearance with other embryonal tumors.

The main diagnostic tools include:

  • Physical examination, evaluation of patient’s medical history
  • Histopathological studies conducted on a biopsy specimen, which is examined under a microscope, by a pathologist. The pathologist may perform additional tests (such as molecular study and immunohistochemical studies) to arrive at a definitive diagnosis
  • Doppler ultrasound scan of the location of the tumor
  • CT scan, MRI scan of the affected body region
  • Bone marrow aspiration and biopsy, to determine the involvement of the bone marrow
  • Whole body bone scan, to determine metastasis to the bone
  • Whole body PET scan, to determine the location of metastasis (if any)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Extrarenal Rhabdoid Tumor?

The complications from Extrarenal Rhabdoid Tumor could include:

  • Metastasis and rapid dissemination of ERRT to other locations of the body, usually the lungs, liver, and lymph nodes
  • Damage to vital nerves, blood vessels, and surrounding structures during surgery, if performed to remove the tumor
  • Side effects of chemotherapy and radiation therapy may occur. The long-term effects include infertility, learning disabilities, and decrease of cognitive skills. The side effects depend on the nature of chemotherapy medications and location of radiotherapy to the body

How is Extrarenal Rhabdoid Tumor Treated?

Treatment measures for Extrarenal Rhabdoid Tumor include the following:

  • Chemotherapy combined with stem cell or bone marrow transplantation is effective to some extent, in treating ERRT
  • Considering the young age of the affected population (less than 5 years) and the malignancy of the tumor, radiotherapy is usually not considered a safe option, due to long-term side effects
  • Surgical removal of the tumor to the extent possible (called debulking), which may be followed by chemotherapy and radiation therapy. Debulking is usually performed, when the tumor size is large and in locations surgery may be safely performed, without causing any damage to vital organs
  • If the tumor cannot be removed surgically as a first step of treatment, then chemotherapy may be given to reduce the size of the tumor. Once the tumor has decreased in size, then imaging scans, such as whole body PET scans and whole body bone scans, are performed to determine the tumor stage. If the tumor has not metastasized, then surgery may be performed, to remove the remainder of the shrunken tumor
  • Newer drugs and safer radiation techniques are still being developed and clinical trials under progress, in search of effective ways to treat ERRT

How can Extrarenal Rhabdoid Tumor be Prevented?

  • Current medical research have not established a way of preventing Extrarenal Rhabdoid Tumor occurrence
  • Genetic counseling with genetic testing should be considered by individuals having a family history of ERRT, and planning for a child
  • In order to avoid a relapse, or be prepared for a recurrence, the entire diagnosis, treatment process, and drugs administered, should be well-documented and follow-up measures initiated
  • Regular medical screening at periodic intervals with blood tests, scans, and physical examinations, are mandatory for those who have survived the disease

What is the Prognosis of Extrarenal Rhabdoid Tumor? (Outcomes/Resolutions)

  • Current treatment methods may not be always effective in treating Extrarenal Rhabdoid Tumor. The tumor is also found to be frequently resistant to many chemotherapy drugs. Radiation therapy may not be a treatment option, due to long-term side effects. The rapid growth of the tumor with frequent metastasis at the time of diagnosis, makes surgical treatments ineffective. These factors combined with a speedy recurrence of the tumor, portrays a dismal prognosis for children with ERRT
  • Age of the child at diagnosis is an important factor. Children aged three and above, show a better survival rate
  • Infants and children below the age of three (at ERRT diagnosis), have a high mortality rate. The median survival period in such cases, is less than two years, after diagnosis of the condition
  • Individuals diagnosed with metastasis conditions and large-sized tumors, have the worst outcomes

Additional and Relevant Useful Information for Extrarenal Rhabdoid Tumor:

Palliative care is recommended by most pediatricians and oncologists when the prognosis is poor, particularly for infants and young children.

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Krish Tangella MD, MBA picture
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Krish Tangella MD, MBA

Pathology, Medical Editorial Board, DoveMed Team

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