Abstract
Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignancy of the central nervous system. It occurs most often in the posterior cranial fossa of children younger than 2 years old. The microscopic appearance of AT/RT is quite variable. Though rhabdoid cells are characteristic of AT/RT, they are often dominated by other cell populations. Owing to its varying morphologies, many entities should be considered in the differential diagnosis of AT/RT. These tumors include medulloblastoma, choroid plexus carcinoma, glioblastoma, and germ cell tumors. Deletions or mutations on the long arm of chromosome 22 resulting in decreased expression of INI1 are seen in nearly all cases of AT/RT. The recent introduction of an immunohistochemical stain for INI1 has greatly aided pathologists in distinguishing AT/RT from other morphological mimics.
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References
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
Bouffard JP, Sandberg GD, Golden JA, Rorke LB (2004) Double immunolabeling of central nervous system atypical teratoid/rhabdoid tumors. Mod Pathol 17:679–683
Burger PC, Scheithauer BW (2007) Tumors of the central nervous system (AFIP atlas of tumor pathology). American Registry of Pathology Press, Washington, DC
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 study group study. Am J Surg Pathol 22:1083–1092
Dang T, Vassilyadi M, Michaud J, Jimenez C, Ventureyra EC (2003) Atypical teratoid/rhabdoid tumors. Childs Nerv Syst 19:244–248
Edgar MA, Rosenblum MK (2008) The differential diagnosis of central nervous system tumors: a critical examination of some recent immunohistochemical applications. Arch Pathol Lab Med 132:500–509
Fung KM, Perry A, Payner TD, Shan Y (2004) Rhabdoid glioblastoma in an adult. Pathology 36:585–587
Haberler C, Laggner U, Slavc I, Czech T, Ambros IM, Ambros PF, Budka H, Hainfellner JA (2006) Immunohistochemical analysis of INI1 protein in malignant pediatric CNS tumors: lack of INI1 in atypical teratoid/rhabdoid tumors and in a fraction of primitive neuroectodermal tumors without rhabdoid phenotype. Am J Surg Pathol 30:1462–1468
Hanna SL, Langston JW, Parham DM, Douglass EC (1993) Primary malignant rhabdoid tumor of the brain: clinical, imaging, and pathologic findings. AJNR Am J Neuroradiol 14:107–115
Hilden J, Meerbaum S, Burger P, Finlay J, Janss A, Scheithauer BW, Wwalter 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
Judkins AR (2007) Immunohistochemistry of INI1 expression: a new tool for old challenges in CNS and soft tissue pathology. Adv Anat Pathol 14:335–339
Judkins AR, Burger PC, Hamilton RL, Kleinschmidt-DeMasters B, Perry A, Pomeroy SL, Rosenblum MK, Yachnis AT, Zhou H, Rorke LB, Biegel JA (2005) INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol 64:391–397
Kleinschmidt-DeMasters BK, Alassiri AH, Birks DK, Newell KL, Moore W, Lillehei KO (2010) Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. Am J Surg Pathol 34:341–354
Lefkowitz IB, Rorke LB, Packer RJ (1987) Atypical teratoid tumor of infancy: definition of an entity. Ann Neurol 22:448–449, (abstract)
Louis DN, Ohgaki H, Wiestler OD, Cavenee WK (2007) WHO classification of tumours of the central nervous system. IARC Press, Lyon, pp 147–149; 234–235
Nagai S, Kurimoto M, Ishizawa S, Hayashi N, Hamada H, Kamiyama H, Endo S (2009) A rare astrocytic tumor with rhabdoid features. Brain Tumor Pathol 26:19–24
Parwani AV, Stelow EB, Pambuccian SE, Burger PC, Ali SZ (2005) Atypical teratoid/rhabdoid tumor of the brain: cytopathologic characteristics and differential diagnosis. Cancer Cytopathol 105:65–70
Perry A, Fuller CE, Judkins AR, Dehner LP, Biegel JA (2005) INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol 18:951–958
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
Sigauke E, Rakheja D, Maddox DL, Hladik CL, White CL, Timmons CF, Raisanen J (2006) Absence of expression of SMARCB1/INI1 in malignant rhabdoid tumors of the central nervous system, kidneys, and soft tissue: an immunohistochemical study with implications for diagnosis. Mod Pathol 19:717–725
Weeks DA, Beckwith JB, Mierau GW, Luckey DW (1989) Rhabdoid tumor of kidney. A report of 111 cases from the National Wilms’ Tumor Study Pathology Center. Am J Surg Pathol 13:439–458
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Bishop, J.A., Ali, S.Z. (2012). Pediatric Atypical Teratoid/Rhabdoid Tumors: Differential Diagnosis. In: Hayat, M. (eds) Pediatric Cancer, Volume 2. Pediatric Cancer, vol 2. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-2957-5_6
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