Abstract
BACKGROUND: Atypical teratoid/rhabdoid tumor (AT/RT) is an aggressive pediatric brain tumor. The majority of patients recur within 2–3 years of completion of therapy. We report the outcomes of 2 patients with late relapses occurring more than 4 years after completion of initial therapy who are long-term survivors. PATIENT COHORT: Patient #1 at 2 years of age was treated with focal irradiation and chemotherapy. He developed a distant recurrence 4 years later and was treated with craniospinal irradiation (CSI) and chemotherapy. He is disease-free at 10 years. Patient #2 at 3 years of age was treated with whole brain irradiation and chemotherapy. This patient developed a new distant AT/RT 11 years later and was treated with CSI and high-dose chemotherapy with autologous stem cell rescue. She is alive without disease at 4 years. Testing for germline SMARCB1 loss was performed in patient #2 and showed the patient to have rhabdoid predisposition syndrome type 1. Consequently, it is possible that the recurrence 11 years after her initial diagnosis was a second primary. We compared the outcomes of these late recurrences with all 20/32 patients with ATRT who recurred after initial therapy since 2007. All but 2 patients recurred within 3 years of completion of therapy, and all 18 died of disease. The 2 remaining patients are undergoing active salvage treatment. CONCLUSION: Late recurrences more than 4 years from completion of therapy in AT/RT are infrequent. In the 2 patients presented above, however, salvage treatment including CSI was successful in controlling these late relapses. We hypothesize that unlike early recurrences, late recurrences of AT/RT may be successfully controlled with salvage treatment that includes CSI.