Abstract
Atypical teratoid/rhabdoid (AT/RT) tumor is a rare, highly malignant tumor of the central nervous system (CNS) most commonly found in children less than 5 years of age. Although the vast majority of cases are diagnosed in young children, there have been isolated case reports in adults. Since its histological appearance can be confused with other tumors, especially in adults, separating AT/RT from other neoplasms may be difficult. In many instances, a reliable diagnosis is not possible without demonstrating the lack of nuclear INI1 protein expression by immunohistochemical methods. The patients (three males and one female) ranged in age from 23 to 42 years (mean age, 32 years). Radiographically, two tumors were localized in the right fronto-parietal region, one was frontal and the other was found in the left temporal lobe. Varying degrees of hydrocephalus and heterogeneous enhancement were present on MRI. In all cases, diagnosis during intraoperative consultation and preliminary diagnosis was different from the final diagnosis after immunohistochemical analysis. Immunohistochemical staining showed that the tumor cells were positive for vimentin and reacted variably for keratin, epithelial membrane antigen (EMA), synaptophysin, neurofilament protein, CD34, and smooth muscle actin (SMA). All were negative for GFAP, S-100, desmin and CD99. Three of the four cases lacked nuclear expression of INI1. One patient is alive with no evidence of disease 17 years after the diagnosis. In adult examples of AT/RT, the diagnosis requires a high index of suspicion, with early tissue diagnosis and a low threshold for investigation with INI1 immunohistochemistry to differentiate this entity from other morphologically similar tumors. Although the prognosis is dismal in pediatric population, long term survival is possible in adult AT/RT cases after surgery and adjuvant radiotherapy and chemotherapy.
Similar content being viewed by others
References
Beckwith JB, Palmer NF (1978) Histopathology and prognosis of Wilms tumors: results from the First National Wilms’ Tumor Study. Cancer 41:1937–1948
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
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
Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, Fadul CE, Meyer LP, Park JP, Biegel JA, Perry A, Rhodes CH (2007) Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol 84:49–55
Horn M, Schlote W, Lerch KD, Steudel WI, Harms D, Thomas E (1992) Malignant rhabdoid tumor: primary intracranial manifestation in an adult. Acta Neuropathol (Berl) 83:445–448
Fisher BJ, Siddiqui J, Macdonald D, Cairney AE, Ramsey D, Munoz D, Del Maestro R (1996) Malignant rhabdoid tumor of brain: an aggressive clinical entity. Can J Neurol Sci 23:257–263
Ashraf R, Bentley RC, Awan AN, McLendon RE, Ragozzino MW (1997) Implantation metastasis of primary malignant rhabdoid tumor of the brain in an adult (one case report). Med Pediatr Oncol 28:223–227
Arrazola J, Pedrosa I, Mendez R, Saldana C, Scheithauer BW, Martinez A (2000) Primary malignant rhabdoid tumour of the brain in an adult. Neuroradiology 42:363–367
Kawaguchi T, Kumabe T, Watanabe M, Tominaga T (2004) Atypical teratoid/rhabdoid tumour with leptomeningeal dissemination in an adult. Acta Neurochir (Wien) 146: 1033–1038 (discussion 1038)
Lutterbach J, Liegibel J, Koch D, Madlinger A, Frommhold H, Pagenstecher A (2001) Atypical teratoid/rhabdoid tumors in adult patients: case report and review of the literature. J Neurooncol 52:49–56
Pimentel J, Silva R, Pimentel T (2003) Primary malignant rhabdoid tumors of the central nervous system: considerations about two cases of adulthood presentation. J Neurooncol 61:121–126
Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A (2005) Chromosome 22q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol 15:23–28
Rezanko T, Tunakan M, Kahraman A, Sucu HK, Gelal F, Akkol I (2006) Primary rhabdoid tumor of the brain in an adult. Neuropathology 26:57–61
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
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
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 extrarenal rhabdoid tumors. Clin Cancer Res 8: 3461–3467
Judkins AR, Mauger J, Ht A, Rorke LB, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650
Byram D (1999) Regarding Weiss et al., IJROBP 41:103–109; 1998. Int J Radiat Oncol Biol Phys 45:247
Sugita Y, Takahashi Y, Hayashi I, Morimatsu M, Okamoto K, Shigemori M (1999) Pineal malignant rhabdoid tumor with chondroid formation in an adult. Pathol Int 49:1114–1118
Bruch LA, Hill DA, Cai DX, Levy BK, Dehner LP, Perry A (2001) A role for fluorescence in situ hybridization detection of chromosome 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumors. Hum Pathol 32:156–162
Kachhara R, Retnam TM, Kumar S, Nair S, Bhattacharya RN, Krishnamoorthy T, Radhakrishnan VV (2003) Rhabdoid tumor of the thalamus. Neurol India 51:273–274
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
Bhattacharjee M, Hicks J, Dauser R, Strother D, Chintagumpala M, Horowitz M, Cooley L, Vogel H (1997) Primary malignant rhabdoid tumor of the central nervous system. Ultrastruct Pathol 21:361–368
Parmar H, Hawkins C, Bouffet E, Rutka J, Shroff M (2006) Imaging findings in primary intracranial atypical teratoid/rhabdoid tumors. Pediatr Radiol 36:126–132
Lee MC, Park SK, Lim JS, Jung S, Kim JH, Woo YJ, Lee JS, Kim HI, Jeong MJ, Choi HY (2002) Atypical teratoid/rhabdoid tumor of the central nervous system: clinico-pathological study. Neuropathology 22:252–260
Medjkane S, Novikov E, Versteege I, Delattre O (2004) The tumor suppressor hSNF5/INI1 modulates cell growth and actin cytoskeleton organization. Cancer Res 64:3406–3413
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
Biegel JA, Kalpana G, Knudsen ES, Packer RJ, Roberts CW, Thiele CJ, Weissman B, Smith M (2002) The role of INI1 and the SWI/SNF complex in the development of rhabdoid tumors: meeting summary from the workshop on childhood atypical teratoid/rhabdoid tumors. Cancer Res 62:323–328
Lee CH, Murphy MR, Lee JS, Chung JH (1999) Targeting a SWI/SNF-related chromatin remodeling complex to the beta-globin promoter in erythroid cells. Proc Natl Acad Sci USA 96:12311–12315
Muchardt C, Yaniv M (1999) The mammalian SWI/SNF complex and the control of cell growth. Semin Cell Dev Biol 10:189–195
Phelan ML, Sif S, Narlikar GJ, Kingston RE (1999) Reconstitution of a core chromatin remodeling complex from SWI/SNF subunits. Mol Cell 3:247–253
Kalpana GV, Marmon S, Wang W, Crabtree GR, Goff SP (1994) Binding and stimulation of HIV-1 integrase by a human homolog of yeast transcription factor SNF5. Science 266:2002–2006
Wong AK, Shanahan F, Chen Y, Lian L, Ha P, Hendricks K, Ghaffari S, Iliev D, Penn B, Woodland AM, Smith R, Salada G, Carillo A, Laity K, Gupte J, Swedlund B, Tavtigian SV, Teng DH, Lees E (2000) BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. Cancer Res 60:6171–6177
Knudsen ES, Buckmaster C, Chen TT, Feramisco JR, Wang JY (1998) Inhibition of DNA synthesis by RB: effects on G1/S transition and S-phase progression. Genes Dev 12:2278–2292
Strobeck MW, Knudsen KE, Fribourg AF, DeCristofaro MF, Weissman BE, Imbalzano AN, Knudsen ES (2000) BRG-1 is required for RB-mediated cell cycle arrest. Proc Natl Acad Sci USA 97:7748–7753
Parham DM, Weeks DA, Beckwith JB (1994) The clinicopathologic spectrum of putative extrarenal rhabdoid tumors. An analysis of 42 cases studied with immunohistochemistry or electron microscopy. Am J Surg Pathol 18:1010–1029
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
Allen JC, Judkins AR, Rosenblum MK, Biegel JA (2006) Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol 8:79–82
Litman DA, Bhuta S, Barsky SH (1993) Synchronous occurrence of malignant rhabdoid tumor two decades after Wilms’ tumor irradiation. Am J Surg Pathol 17:729–737
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Makuria, A.T., Rushing, E.J., McGrail, K.M. et al. Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. J Neurooncol 88, 321–330 (2008). https://doi.org/10.1007/s11060-008-9571-z
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11060-008-9571-z