Epidemiology, management and outcome of childhood Atypical Teratoid/Rhabdoid Tumours (ATRT) of central nervous system

Abstract

BACKGROUND: Atypical Teratoid Rhabdoid Tumour (ATRT) is a rare and aggressive brain tumour (WHO Grade IV) in young children which carries poor prognosis. We reviewed our clinical experience for these patients. METHOD: Retrospective review of children diagnosed with CNS ATRT from Jan 1999 to Dec 2014 treated in five hospitals in Hong Kong covering almost all cases. RESULT: Fifteen patients (N = 15, 7 boys and 8 girls) were diagnosed with CNS ATRT within 16 years. The median age was 28 months (range 2.4-170.4) and 73% were younger than 36 months. Primary tumours were located at supratentorium (n = 7), posterior fossa (n = 7) and spine (n = 1). Two patients (13%) had metastasis. Eight specimens had confirmed loss of INI-1 expression. Germline SMARCB1 mutation was tested in 3 patients and were negative. Gross total resection was achieved in 11 patients (73%). Eleven patients received chemotherapy regimens: Carbo/VCR/Ifos/VP16 (36%), Doxo/Ifos/Carbo/VP16/VCR/CPM/Dact (18%), Doxo/Dact/CDDP/VCR/CCNU (36%), CDDP/CCNU/VCR (9%). High-dose chemotherapy was given in 2 patients (18%). Eight patients (53%) received upfront radiotherapy at median age of 36 months. The median survival was 10.8 months while the 2 years and 5 years event-free survival were 30% and 15% respectively by Kaplan-Meier analysis. We had 4 survivors who underwent gross total resection, systemic and intrathecal/intra-ventricular chemotherapy with upfront radiotherapy. They were followed up for 1.5 to 9.7 years, of which three were disease-free while 1 had residual disease. CONCLUSION: CNS ATRT carries poor prognosis despite intensive treatment in young children. Some patients survived after multidisciplinary intensive treatment.