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Metastatic atypical teratoid/rhabdoid tumors (AT/RTs) are aggressive central nervous system tumors that present during infancy and are associated with dismal outcomes. Patients receive multimodal treatment including surgical resection, systemic chemotherapy, and one or more of intrathecal chemotherapy (IT), marrow-ablative chemotherapy with autologous hematopoietic cell rescue (AuHCR) and radiation therapy (XRT). While data regarding treatment modalities for AT/RT patients exist, no comprehensive data have been published regarding the metastatic patients.We performed a meta-analysis of 1578 articles published through September 2018, including 44 studies with a total of 123 subjects. In addition, seven patients were included through chart review of patients treated at Nationwide Children's Hospital.Analysis of 130 patients revealed a 3-year overall survival (OS) of 25%. Age at diagnosis had a significant effect on survival (P = 0.0355); 3-year OS for infants less than 18 months was 21%, 18 to 36 months was 26%, and greater than 36 months was 36%. Location of the primary tumor, metastatic stage, and extent of surgical resection did not have a significant impact on OS. On univariate analysis, XRT (P0.0001), IT (P = 0.01), and AuHCR (P0.0001) were found to significantly improve survival. The most substantial effect was noted in patients who received AuHCR (3-year OS of 60% vs 9% in those who did not). On multivariable analysis, XRT (P = 0.0006), IT (P = 0.0124), and AuHCR (P0.0001) were independently associated with reduced risk of death.Although more research is warranted to make generalizable conclusions, these results suggest that treatment regimens for patients with metastatic AT/RTs should include AuHCR, XRT, and IT.

Background Advanced diagnostic imaging has provided tremendous benefits; however, increased use of ionizing radiation modalities such as cranial computed tomography (CT) may be associated with an increased risk of developing central nervous system tumors. Methods A literature review identified studies published for more than the last 50 years from 1968 to 2018 that explored the association between head CT scans and developing central nervous system tumors in pediatrics. We reviewed seven studies that described and analyzed the risk of brain tumors. Results A positive correlation between exposure to CT scans and developing central nervous system tumors was evident in all cohorts. The strength of the association varied across the studies. Exclusion of patients with predisposing factors to central nervous system tumors was examined in four studies with a decreased risk to develop central nervous system tumors noted in three studies. Two studies reported nonsignificant reduction in the excess relative risk per milliGray of brain dose after adjusting for predisposing factors, whereas the reduction was significant in one study. The frequency of CT exposure was proportional to the risk of developing tumors in two studies although not significantly maintained in two other studies. Gender had no significant effect on the central nervous system tumor risk. The calendar year at the time of imaging showed decreasing risk in those exposed to CT in more recent years compared with prior decades. Conclusions Prospective epidemiologic studies are needed to examine the precise carcinogenic effect of exposure to ionizing radiation and help tailor further preventive measures.

Background Surgical resection is the treatment of choice for pleomorphic xanthoastrocytoma, while chemotherapy and radiation therapy are typically used in patients with anaplasia, metastasis, or sometimes in subtotally resected cases, especially upon recurrence. Extracranial dissemination has been only rarely reported. We describe a five year old boy with the rare occurrence multiply recurrent and extracranially disseminated anaplastic pleomorphic xanthoastrocytoma. A complete resolution of his tumor was achieved for greater than two years thus far after administering everolimus. Methods We performed a comprehensive literature review of all pleomorphic xanthoastrocytoma cases; 359 cases were described, and 132 of these individuals were less than 18 years of age. Results Gross total resection was achieved in only 132 (36.7%) cases, while additional therapy was administered in 186 patients. Only four patients in additon to our own have been documented with extracranial dissemination (four of five in the pediatric population); two patients who succumbed to their disease underwent subtotal resection of the primary tumor. Conclusions We report the first patient with extracranially disseminated anaplastic pleomorphic xanthoastrocytoma to be successfully maintained on everolimus as a single oral chemotherapy agent with complete resolution of the tumor. Pleomorphic xanthoastrocytoma can rarely disseminate extracranially in the pediatric population, hence pathologists and neuro-oncologists should be aware of this possibility.

Background Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system (CNS) with synchronous or metachronous extra-CNS disease is a rare childhood malignancy with a dismal prognosis. Case Description We report a 7-week-old female with metastatic AT/RT and synchronous malignant rhabdoid tumor of the kidney who received an intensive multimodal approach combining surgical resection, intrathecal chemotherapy, and high-dose chemotherapy with autologous peripheral blood stem cell transplant (PBSCT). She is currently 24 months old without any evidence of disease. In addition, we completed an extensive literature review of cases with CNS AT/RT and synchronous or metachronous extra-CNS primary tumors. To date, 31 pediatric cases have been reported, and the median overall-survival was 6 months after diagnosis. The only 3 survivors received autologous PBSCT, and 2 of these patients had complete resection of their CNS tumor. Conclusions The rarity of CNS AT/RT with extra-CNS primary disease and the lack of standard treatment contribute to its reported dismal prognosis. We report a case of a long-term survivor with metastatic AT/RT and synchronous extra-CNS primary tumor. Maximal surgical resection, intrathecal chemotherapy, and consolidative autologous PBSCT may improve prognosis and avoid radiation.