Clinical Guidance

Rhabdoid tumor predisposition syndrome (RTPS) is characterized by a markedly increased risk of developing rhabdoid tumors. Rhabdoid tumors are rare and highly aggressive malignant tumors occurring predominantly in infants and children younger than age three years. The term rhabdoid is derived from the histologic resemblance of tumor cells to rhabdomyoblasts. Rhabdoid tumors are characterized by heaps of cells with an eccentric nucleus and prominent nucleoli, abundant cytoplasm with eosinophilic inclusion bodies, and distinct cellular membranes.

Diagnostic Criteria

Suggestive Findings

Rhabdoid tumor predisposition syndrome (RTPS) should be suspected in an individual with any of the following clinical or laboratory features. Clinical features. Any rhabdoid tumor with the following features is particularly suspicious:

Source: GeneReviews — "Rhabdoid Tumor Predisposition Syndrome"

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs of an individual diagnosed with rhabdoid tumor predisposition syndrome (RTPS), the following are recommended:

• For all individuals (regardless of age), a whole-body MRI should be offered at diagnosis.

Surveillance Guidelines

Surveillance guidelines for individuals with RTPS have been provided by , , and . Birth to age six months. Monthly (or at least every 2-3 months) thorough clinical examination including neurologic examination, ultrasound of the abdomen and neck, and head ultrasound or brain and spine MRI or whole-body MRI (imaging modality is based on resources and need for anesthesia). Clinically suspicious regions should initially be evaluated by ultrasound. Note: This intensive surveillance may only be possible in a research setting; recommendations are based on the high risk of tumors within this age group. Age seven months to 18 months. Every two to three months, thorough clinical examination including neurologic examination and ultrasound of the abdomen and neck; consider brain and spine MRI. Clinically suspicious regions should initially be evaluated by ultrasound. Note: Whole-body MRI resolution may not be sufficient for brain structures; MRI of the central nervous system will then need to be done separately. Age 19 months to five years. Every three months, thorough clinical examination including neurologic examination, ultrasound of the abdomen and neck, and brain and spine MRI. Clinically suspicious regions should initially be evaluated by ultrasound. After age five years the risk of developing a new rhabdoid tumor dramatically decreases . It remains worthwhile, however, to screen individuals with RTPS for other manifestations (e.g., schwannomas, SCCOHT).