ATYPICAL TERATOID/RHABDOID TUMOR
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ALTERNATE NAMES
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AT/RT; Central Nervous System AT/RT; CNS AT/RT; Malignant AT/RT; Childhood Atypical
Teratoid / Rhabdoid Tumor; Childhood AT/RT
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DESCRIPTION
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Atypical Teratoid/ Rhabdoid Tumor (AT/RT) is a rare central nervous system tumor of
the brain and spinal cord, which may also originate in other organs and tissues. It
usually occurs in children younger than three years of age, although it can occur
in older children and adults. About half of these tumors form in the cerebellum or
brain stem.
Approximately 90% of AT/RTs are caused by genetic mutations in the INI1 gene.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING
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Diagnostic testing: AT/RT is diagnosed using a combination of:
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Imaging (CT or MRI scans, ultrasound, bone scan);
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Laboratory tests including lumbar puncture, bone marrow biopsy and aspiration; and
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INI1 gene testing for mutations.
Physical findings and Symptoms: Children with AT/RT may present with:
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Complaints of morning headache or headache that goes away after vomiting;
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Unusual sleepiness or change in activity level;
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Loss of balance, lack of coordination, or trouble walking; and
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Increased head size in infants.
ICD-9: 191.00
ICD-10: C72.9
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PROGRESSION
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AT/RTs usually occur in children younger than three years of age, although it can
occur in older children and adults. Symptoms of AT/RTs may develop quickly and progress
over a period of days or weeks with symptoms varying depending on the age of the child
and the location of the tumor. Children presenting with AT/RT before the age of 3
years have a poor prognosis. The prognosis is also based on residual tumor remaining
after surgery, and whether the cancer has spread (metastasized) to other parts of
the central nervous system or rest of the body such as kidney.
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TREATMENT
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There is no standard staging system for central nervous system atypical teratoid/
rhabdoid tumor. This tumor is classified as newly diagnosed or recurrent. Treatment
depends on the age of the child and extent of the cancer, and may include chemotherapy,
radiation therapy, or high-dose chemotherapy with stem cell transplant. Long-term
survival is possible in adults receiving multimodal therapy.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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MRI/ CT scans, bone scans, ultrasound; and
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Results of bone marrow biopsy or lumbar puncture (spinal tap).
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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13.13 A
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Listing level severity must be documented. Evaluate under 13.13 in adults if the tumor
originates in the central nervous system. Evaluate under the appropriate adult listing
when AT/RT originates in locations besides the central nervous system, such as in
the neck (13.02 D), mediastinum (13.15 B 1), liver (13.19), and kidney (13.21 B).
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113.13
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Listing level severity must be documented.Evaluate under 113.03 when the tumor originates
in locations besides the central nervous system.
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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