Abstract
Case study
We report the case of a 7-year-old boy who presented in 1998 a tumour of the left frontal lobe. Initially diagnosed as anaplastic ependymoma, the boy was treated by gross total resection followed by radiotherapy at the operated site. In July 2005, an orbital tumour was discovered and resected. The tumour was composed of sheets of rhabdoid cells which diffusely expressed vimentin and focally epithelial membrane antigen (EMA) and α-smooth actin by immunohistochemistry. The first tumour was re-examined. Small foci of rhabdoid cells were found. Immunohistochemistry anti-INI1 performed on both tumours was negative. Molecular techniques performed on frozen specimen of the orbital tumour confirmed the diagnosis of atypical teratoid/rhabdoid tumour (ATRT).
Discussion
We discuss the pathological criteria for diagnosis of ATRT and the usefulness of early radiotherapy in the light of the recent literature.
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References
Biegel JA (2006) Molecular genetics of atypical teratoid/rhabdoid tumors. Neurosurg Focus 20:1–7
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
Bruch LA, Hill DA, Cai DX, Levy BK, Dehner LP, Perry A (2001) A role for fluorescence in situ hybridization detection of chromosome 22 q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumors. Human Pathol 32:156–162
Chen YW, Wong TT, Ho DM, Huang PI, Chang KP, Shiau CY, Yen SH (2006) Impact of radiotherapy for pediatric CNS atypical teratoid/rhabdoid tumor (single institute experience). Int J Radiat Oncol Biol Phys 64:1038–1043
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
Fernandez C, Bouvier C, Sevenet N, Liprandi A, Coze C, Lena G, Figarella-Branger D (2002) Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis. Am J Surg Pathol 26:266–270
Fujita M, Sato M, Nakamura M, Kudo K, Nagasaka T, Mizuno M, Amano E, Okamoto Y, Hotta Y, Hatano H, Nakahara N, Wakabayashi T,Yoshida J (2005) Multicentric atypical teratoid/rhabdoid tumors occurring in the eye and fourth ventricle of an infant: case report. J Neurosurg 102:299–302
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
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
Hoot AC, Russo P, Judkins AR, Perlman EJ, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 distinguishes renal and extra-renal malignant rhabdoid tumors from other pediatric soft tissue tumors. Am J Surg Pathol 28:1485–1491
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
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
Raisanen J, Biegel JA, Hatanpaa KJ, Judkins A, White CL, Perry A (2005) Chromosome 22 q deletions in atypical teratoid/rhabdoid tumors in adults. Brain Pathol 15: 23–28
Ronghe MD, Moss TH, Lowis SP (2004) Treatment of CNS malignant rhabdoid tumors. Pediatr Blood Cancer 42: 254–260
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
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 65:1342–1348
Tekautz TM, Fuller CE, Blaney S, Fouladi M, Broniscer A, Merchant TE, Krasin M, Dalton J, Hale G, Kun LE, Wallace D, Gilbertson RJ, Gajjar A (2005) Atypical teratoid/rhabdoid tumors (ATRT): 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
Weinblatt M, Kochen J (1992) Rhabdoid tumor of the central nervous system. Med Pediatr Oncol 20:258
Acknowledgements
We are grateful to C. Cazeaux and G. Tijeras for technical assistance. Grant support: this work was supported by institutional grants of EA3281.
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Bouvier, C., De Paula, A.M., Fernandez, C. et al. 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, 143–147 (2008). https://doi.org/10.1007/s00381-007-0438-y
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DOI: https://doi.org/10.1007/s00381-007-0438-y