Abstract
Introduction
Atypical teratoid/rhabdoid tumor (AT/RT) is an aggressive embryonal tumor of the central nervous system with a generally dismal prognosis, especially in patients younger than 12 months.
Discussion
We here describe the unusual case of an infant with AT/RT with long-term survival despite low-cumulative dose chemotherapy after subtotal resection. Due to a poor neurological situation and an unfavorable oncological prognosis, therapy was halted after two partial surgical resections and four of the nine chemotherapy courses recommended by the European Rhabdoid Registry, without the patient receiving either radiotherapy or high-dose chemotherapy. The patient is alive without evidence of disease 52 months after diagnosis.
Conclusion
This case report highlights that independent prognostic factors are urgently needed for optimizing treatment stratification and preventing overtreatment.
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References
Hollmann TJ, Hornick JL (2011) INI1-deficient tumors: diagnostic features and molecular genetics. Am J Surg Pathol 35(10):e47–e63
Wilson BG, Roberts CW (2011) SWI/SNF nucleosome remodellers and cancer. Nat Rev Cancer 11(7):481–492
von Hoff K, Hinkes B, Dannenmann-Stern E, von Bueren AO, Warmuth-Metz M, Soerensen N et al (2011) Frequency, risk-factors and survival of children with atypical teratoid rhabdoid tumors (AT/RT) of the CNS diagnosed between 1988 and 2004, and registered to the German HIT database. Pediatr Blood Cancer 57(6):978–985
Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T et al (2010) Incidence of atypical teratoid/rhabdoid tumors in children: a population-based study by the Austrian Brain Tumor Registry, 1996-2006. Cancer 116(24):5725–5732
Slavc I, Chocholous M, Leiss U, Haberler C, Peyrl A, Azizi AA et al (2014) Atypical teratoid rhabdoid tumor: improved long-term survival with an intensive multimodal therapy and delayed radiotherapy. The Medical University of Vienna Experience 1992–2012. Cancer Med 3(1):91–100
Zaky W, Dhall G, Ji L, Haley K, Allen J, Atlas M et al (2014) Intensive induction chemotherapy followed by myeloablative chemotherapy with autologous hematopoietic progenitor cell rescue for young children newly-diagnosed with central nervous system atypical teratoid/rhabdoid tumors: the Head Start III experience. Pediatr Blood Cancer 61(1):95–101
Seeringer A, Bartelheim K, Kerl K, Hasselblatt M, Leuschner I, Rutkowski S et al (2014) Feasibility of intensive multimodal therapy in infants affected by rhabdoid tumors—experience of the EU-RHAB registry. Klin Padiatr 226(3):143–148
Benesch M, Bartelheim K, Fleischhack G, Gruhn B, Schlegel PG, Witt O et al (2014) High-dose chemotherapy (HDCT) with auto-SCT in children with atypical teratoid/rhabdoid tumors (AT/RT): a report from the European Rhabdoid Registry (EU-RHAB). Bone Marrow Transplant 49(3):370–375
Chi SN, Zimmerman MA, Yao X, Cohen KJ, Burger P, Biegel JA et al (2009) Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol 27(3):385–389
Finkelstein-Shechter T, Gassas A, Mabbott D, Huang A, Bartels U, Tabori U et al (2010) Atypical teratoid or rhabdoid tumors: improved outcome with high-dose chemotherapy. J Pediatr Hematol Oncol 32(5):e182–e186
Park ES, Sung KW, Baek HJ, Park KD, Park HJ, Won SC et al (2012) Tandem high-dose chemotherapy and autologous stem cell transplantation in young children with atypical teratoid/rhabdoid tumor of the central nervous system. J Korean Med Sci 27(2):135–140
Bouvier C, De Paula AM, Fernandez C, Quilichini B, Scavarda D, Gentet JC et al (2008) Atypical teratoid/rhabdoid tumour: 7-year event-free survival with gross total resection and radiotherapy in a 7-year-old boy. Childs Nerv Syst 24(1):143–147
Gidwani P, Levy A, Goodrich J, Weidenheim K, Kolb EA (2008) Successful outcome with tandem myeloablative chemotherapy and autologous peripheral blood stem cell transplants in a patient with atypical teratoid/rhabdoid tumor of the central nervous system. J Neurooncol 88(2):211–215
Modena P, Sardi I, Brenca M, Giunti L, Buccoliero AM, Pollo B et al (2013) Case report: long-term survival of an infant syndromic patient affected by atypical teratoid-rhabdoid tumor. BMC Cancer 13:100
Dufour C, Beaugrand A, Le Deley MC, Bourdeaut F, Andre N, Leblond P et al (2012) Clinicopathologic prognostic factors in childhood atypical teratoid and rhabdoid tumor of the central nervous system: a multicenter study. Cancer 118(15):3812–3821
Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F et al (2011) Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res 17(1):31–38
Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O (1999) Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet 65(5):1342–1348
Torchia J, Picard D, Lafay-Cousin L, Hawkins CE, Kim SK, Letourneau L et al (2015) Molecular subgroups of atypical teratoid rhabdoid tumours in children: an integrated genomic and clinicopathological analysis. Lancet Oncol 16(5):569–582
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The authors thank K. Astrahantseff for proofreading the manuscript and V. Klepatschow for figure preparation.
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Arnhold, V., Oyen, F., Schneppenheim, R. et al. Long-term survival of an infant with an atypical teratoid/rhabdoid tumor following subtotal resection and low-cumulative dose chemotherapy: a case report. Childs Nerv Syst 32, 1157–1161 (2016). https://doi.org/10.1007/s00381-015-2999-5
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DOI: https://doi.org/10.1007/s00381-015-2999-5