Abstract
Pediatric Atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system (CNS) are among the most malignant neoplasms and most often diagnosed in children smaller than 3 years of age and incidence is 1–2% of all brain tumors in children. Sixty-three percent of the AT/RT of the CNS is seen in infra-tentorial compartment, there are no precise imaging features that differentiate AT/RT from the other posterior fossa tumor. The “rhabdoid” cells are characteristic on cytopathology. It has been established now that CNS, AT/RT often shows deletion of the long arm of chromosome 22q11.2. The initial treatment for most children with AT/RT is surgical with and without cerebrospinal fluid diversionary procedure. Children with less than 3 years of age offered chemotherapy but in older children radiotherapy is given in addition.
Keywords
- Glial Fibrillary Acidic Protein
- Posterior Fossa
- Gamma Knife
- Central Nervous System Tumor
- Epithelial Membrane Antigen
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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Albright AL, Wisoff JH, Zeltzer PM, Boyett JM, Rorke LB, Stanley P (1996) Effects of medulloblastoma resections on outcome in children: a report from the Children’s Cancer Group. Neurosurgery 38:265–271
Bambakidis NC, Robinson S, Cohen M, Cohen AR (2002) Atypical teratoid/rhabdoid tumors of the central nervous system: clinical, radiographic and pathologic features. Pediatr Neurosurg 37:64–70
Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilm’s tumors: results from the First National Wilm’s Tumor Study. Cancer 41:1937–1948
Bhattacharjee M, Hicks J, Langford L, Dauser R, Strother D, Chintagumpala M (1997) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. Ultrastruct Pathol 21:369–378
Biegel JA (1997) Genetics of pediatric central nervous system tumors. J Pediatr Hematol Oncol 19:492–501
Biegel JA, Rorke LB, Packer RJ, Emanuel BS (1990) Monosomy 22 in rhabdoid or atypical tumors of the brain. J Neurosurg 73:710–714
Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74–79
Biegel JA, Fogelgren B, Zhou JY, James CD, Janss AJ, Allen JC, Zagzag D, Raffel C, Rorke LB (2000) Mutations of the INI1 rhabdoid tumor suppressor gene in medulloblastomas and primitive neuroectodermal tumors of the central nervous system. Clin Cancer Res 6:2759–2763
Biegel JA, Tan L, Zhang F, Wainwright L, Russo P, Rorke LB (2002) Alterations of the hSNF5/INI1 gene in central nervous system atypical teratoid/rhabdoid tumors and renal and extra-renal rhabdoid tumors. Clin Cancer Res 8:3461–3467
Briner J, Bannwart F, Kleihues P (1985) Malignant small cell tumor of the brain with intermediate filaments – a case of primary cerebral rhabdoid tumor. Pediatr Pathol 3:117–118
Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, Duffner PK, Kun LE, Perlman EJ (1998) Atypical teratoid/rhabdoid tumor of the central nervous system: a highly malignant tumor of infancy and childhood frequently mistaken for medulloblastoma: a Pediatric Oncology Group study. Am J Surg Pathol 22:1083–1092
Cheng YC, Lirng JF, Chang FC, Guo WY, Teng MM, Chang CY, Wong TT, Ho DM (2005) Neuroradiological findings in atypical teratoid/rhabdoid tumor of the central nervous system. Acta Radiol 46:89–96
Erickson ML, Johnson R, Bannykh SI, de Lotbiniere A, Kim JH (2005) Malignant rhabdoid tumor in a pregnant adult female: literature review of central nervous system rhabdoid tumors. J Neurooncol 74:311–319
Fisher BJ, Siddiqui J, Macdonald D, Cairney AE, Ramsey D, Munoz D, Del Maestro R (1996) Malignant rhabdoid tumor of the brain: an aggressive clinical entity. Can J Neurol Sci 23:257–263
Gandhi CD, Krieger MD, McComb JG (2004) Atypical teratoid/rhabdoid tumor: an unusual presentation. Neuroradiology 46:834–837
Gyure KA (2005) Newly defined central nervous system neoplasms. Am J Clin Pathol 123:S3–S12
Haas JE, Palmer NF, Weinberg AG, Beckwith JB (1981) Ultrastructure of malignant rhabdoid tumor of the kidney. A distinctive renal tumor of children. Hum Pathol 12:646–657
Hilden JM, Watterson J, Longee DC, Moertel CL, Dunn ME, Kurtzberg J, Scheithauer BW (1998) Central nervous system atypical teratoid tumor/rhabdoid tumor: response to intensive therapy and review of the literature. J Neurooncol 40:265–275
Hilden JM, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, Walter AW, Rorke LB, Biegel JA (2004) Central nervous system atypical teratoid/rhabdoid tumor: results of therapy in children enrolled in a registry. J Clin Oncol 22:2877–2884
Hirth A, Pedersen PH, Baardsen R, Larsen JL, Krossnes BK, Helgestad J (2003) Gamma-knife radiosurgery in paediatric cerebral and skull base tumors. Med Pediatr Oncol 40:99–103
Kababri ME, Andre N, Carole C, Lena G, Figarella-Branger D, Gentet JC (2006) Atypical teratoid rhabdoid tumor in a child with neurofibromatosis-1. Pediatr Blood Cancer 46:267–268
Kao CL, Chiou SH, Chen YJ, Singh S, Lin HT, Liu RS, Lo CW, Yang CC, Chi CW, Lee CH, Kaya B, Mena H, Miettinen M, Rushing EJ (2003) Alpha-internexin expression in medulloblastoma and atypical teratoid-rhabdoid tumors. Clin Neuropathol 22:215–221
Kao CL, Chiou SH, Chen YJ, Singh S, Lin HT, Liu RS, Lo CW, Yang CC, Chi CW, Lee CH, Wong TT (2005) Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system. Mod Pathol 18:769–778
Oka H, Scheithauer BW (1999) Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. Neurol Med Chir (Tokyo) 39:510–518
Olson TA, Bayar E, Kosnik E, Hamoudi AB, Klopfenstein KJ, Pieters RS, Ruymann FB (1995) Successful treatment of disseminated central nervous system malignant rhabdoid tumor. J Pediatr Hematol Oncol 17:71–75
Packer RJ, Biegel JA, Blaney S, Finlay J, Geyer JR, Heideman R, Hilden J, Janss AJ, Kun L, Vezina G, Rorke LB, Smith M (2002) Atypical teratoid/rhabdoid tumor of the central nervous system: report on workshop. J Pediatr Hematol Oncol 24:337–342
Parwani AV, Stelow EB, Pambuccian SE, Burger PC, Ali SZ (2005) Atypical teratoid/rhabdoid tumor of the brain: cytopathologic characteristics and differential diagnosis. Cancer 105:65–70
Rickert CH, Paulus W (2001) Epidemiology of central nervous system tumors in childhood and adolescence based on new WHO classification. Childs Nerv Syst 17:503–511
Roberts CW, Galusha SA, McMenabin ME, Fletcher CD, Orkin SH (2000) Haploinsufficiency of Snf5 (integrase interactor 1) predisposes to malignant rhabdoid tumors in mice. Proc Natl Acad Sci USA 97:13796–13800
Rorke LB, Packer R, Biegel J (1995) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol 24:21–28
Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65
Sainte-Rose C, Cinalli G, Roux FE, Maixner R, Chumas PD, Mansour M, Carpentier A, Bourgeois M, Zerah M, Pierre-Kahn A, Renier D (2001) Management of hydrocephalus in pediatric patients with posterior fossa tumors: the role of endoscopic third ventriculostomy. J Neurosurg 95:791–797
Strother D (2005) Atypical teratoid rhabdoid tumors of childhood: diagnosis, treatment and challenges. Expert Rev Anticancer Ther 5:907–915
Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT (2000) Familial posterior fossa brain tumors of infancy secondary to germ-line mutation of the hSNF5 gene. Am J Hum Genet 66:1403–1406
Tekautz TM, Fuller CE, Blaney S, Fouladi M, Bronicer A, Merchant TE, Krasin M, Dalton J, Hale G, Kun LE, Wallace D, Gilbertson RJ, Gujjar A (2005) Atypical teratoid/rhabdoid tumors (AT/RT): improved survival in children 3 years of age and older with radiation therapy and high dose alkylator based chemotherapy. J Clin Oncol 23:1491–1499
Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, Aurias A, Delattre O (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206
Wong TT (2005) Increased expression of osteopontin gene in atypical teratoid/rhabdoid tumor of the central nervous system. Mod Pathol 18:769–778
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Bansal, K.K., Goel, D. (2012). Pediatric Atypical Teratoid/Rhabdoid Tumors (An Overview). In: Hayat, M. (eds) Pediatric Cancer, Volume 2. Pediatric Cancer, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-2957-5_1
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