Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system

Abstract

BACKGROUND:The objective of this study was to describe the clinical and pathologic features and to identify prognostic factors in patients with atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system (CNS). METHODS: Patients aged <18 years with newly diagnosed CNS AT/RT who were treated in France between 1998 and 2008 were retrospectively identified. The study included all patients who had a diagnosis of AT/RT confirmed by pathologic review, including immunostaining for INI 1, tumor protein 53 (p53), b-catenin, claudin-6, and Ki-67 and analysis for SMARCB1/hSNF5/INI1 mutation. RESULTS: Fifty-eight patients with confirmed AT/RT were eligible for the current analysis. The median age at diagnosis was 1.4 years (range, 14 days to 8.5 years). The site of the primary tumor was supratentorial in 26 patients, infratentorial in 28 patients and spinal in 4 patients. Loss of INI1 nuclear expression was observed in 49 of 50 evaluable tumors. Positive claudin-6 was observed in 37 of 42 assessed tumors and, in 12 of those tumors, the staining was strong and diffuse. Positive nuclear immunoreactivity for b-catenin was observed in 24 of 44 tumors, and P53 was overexpressed in 31 of 44 tumors. Primary adjuvant therapy included chemotherapy in 47 patients and radiotherapy in 16 patients. The median follow-up was 58 months (range, 9-125 months), and the median survival was 9 months. Multivariate analysis identified age <2 years (P ¼ .01), metastasis at diagnosis (P ¼ .03), and strong immunopositivity for claudin-6 (P ¼ .03) as prognostic factors for the risk of death. CONCLUSIONS: AT/RT tumors in children carry a dismal prognosis. Age <2 years, metastasis at diagnosis, and strong claudin-6 positivity appeared to be independent prognostic factors for outcome. Cancer 2012;118:3812-

Improved 6‐year overall survival in AT/RT – results of the registry study Rhabdoid 2007

“…Results from the registry study Rhabdoid 2007 provide information of prognostic factors in accordance with those previously described such as age at diagnosis [6,7,17]. In our cohort seven of eight patients older than 3 years at diagnosis are long-term survivors.…”

“…9, 23, 28). [7]. Comparable unfavorable results of a median OS of 13.5 months were reported by the Canadian Pediatric Brain Consortium [16].…”

“…Survival remains unsatisfactory due to the aggressive nature of the disease and ranges from 15% to 40% even with intensive multimodality therapy [5,6]. Dufour et al report 58 nonuniformly treated patients with atypical teratoid rhabdoid tumor (AT/RT, 1998-2008) with a median overall survival (OS) of 9 months [7]. Chi et al demonstrated a promising 2-year OS of 70% treated in a prospective protocol [8].…”

Atypical teratoid/rhabdoid tumor of lumbar spine in a toddler child

“…Most accepted poor prognostic factors for patients with AT/RT are in children aged below 2 years and in children who have metastasis at diagnosis. 8 Current evidence in limited number of patients suggests that surgical resection is feasible. Approximately onethird of patients with AT/RT can achieve sustained remission after high-dose chemotherapy with autogenic stem cell transplantation.…”

Molecular methods in diagnosis of poorly differentiated malignant brain tumors in children

“…В настоящей работе мы сосредоточились на ре-троспективном исследовании наиболее злокаче-ственных типов опухолей ЦНС у детей (ПНЭО ЦНС, ETMR, АТРО и ГБМ), средняя общая выжи-ваемость при которых не превышает 2 лет и состав-ляет для АТРО 9 мес [16], для ETMR 12 мес [29], для ПНЭО ЦНС 16 мес [21], для ГБМ 24 мес [26].…”