Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy

To retrospectively review an institutional experience in managing atypical teratoid/rhabdoid tumors (AT/RT) of the Central Nervous System with high-dose chemotherapy in infants and children less than 4 years old.

Eight AT/RT patients were identified during the study period 2003 to 2008. Tumor location was supratentorial in 3 cases, infratentorial in 3 cases, and multifocal in 2 patients. Five patients presented with leptomeningeal dissemination. Two of these patients did not receive any active therapy. After surgery, the 6 remaining patients received induction therapy followed by sequential high-dose chemotherapy with autologous stem cell rescue. Two patients receive focal irradiation.

At a median follow-up of 52 months, 4 patients are alive without evidence of tumor. Three of these patients, including 2 with metastatic disease were not irradiated. However, all surviving patients exhibit neuro-cognitive impairment, either at baseline assessment or upon follow-up.

This experience confirms that a subset of young AT/RT patients may achieve long-term survival with intensive and high-dose chemotherapy. The role of radiotherapy is still unclear. However, evidence of neuro-cognitive impairment even in the absence of radiotherapy in this young population suggests that systematic introduction of radiotherapy in current protocols should be carefully assessed.