Acta Neuropathologica

, Volume 110, Issue 1, pp 69–76 | Cite as

Pediatric embryonal tumor of the cerebellum with rhabdoid cells and novel intracytoplasmic inclusions: distinction from atypical teratoid/rhabdoid tumor

  • Atsushi Sasaki
  • Hideyuki Kurihara
  • Shogo Ishiuchi
  • Junko Hirato
  • Nobuhito Saito
  • Yoichi Nakazato
Case Report

Abstract

We report a case of embryonal tumor with novel inclusion bodies occurring in the cerebellum of a 12-year-old girl. The tumor was histopathologically composed of small undifferentiated cells intermingled with a small number of rhabdoid cells, which had an ultrastructural feature of intermediate filament whorls. Immunohistochemically, the neoplasm showed a polyphenotype, including glial fibrillary acidic protein (GFAP), S-100, synaptophysin, chromogranin A, cytokeratin, vimentin, smooth muscle actin, and desmin. However, epithelial membrane antigen (EMA) immunoreactivity was absent. The MIB-1 labeling index was high (25.6%). Ultrastructurally, there was no evidence of neuronal or myogenic differentiation. The small neoplastic cells contained numerous small intracytoplasmic inclusions stained pink by eosin and red by Masson’s trichrome stain. The inclusion body was a densely packed, granulovesicular structure at the electron microscopic level, and was immunoreactive for vimentin, GFAP, desmin, and actin. Reverse transcription-PCR and immunohistochemistry showed the expression of INI1 at the RNA and protein levels, respectively. In conclusion, this tumor was differentiated from atypical teratoid/rhabdoid tumor by the absence of EMA and the presence of INI1 mRNA and protein, and diagnosed as an unclassified, embryonal tumor. Eosinophilic, granulovesicular inclusions of the tumor cells are novel cytoplasmic inclusions in the brain tumor.

Keywords

Atypical teratoid/rhabdoid tumor Immunohistochemistry INI1 Rhabdoid cells Inclusion body 

Notes

Acknowledgements

The authors thank Machiko Yokota and Kohji Isoda for technical support. This work was supported in part by a Grant-in-Aid for Scientific Research (B) (no. 15300113) from the Japanese Ministry of Education, Culture, Sports, Science, and Technology (to Y.N.).

References

  1. 1.
    Bhattacharjee M, Hicks J, Langford L, Dauser R, Strother D, Chintagumpala M, Horowitz M, Cooley L, Vogel H (1997) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. Ultrastruct Pathol 21:369–378PubMedGoogle Scholar
  2. 2.
    Biegel JA, Zhou J-Y, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B (1999) Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res 59:74–79PubMedGoogle Scholar
  3. 3.
    Biggs PJ, Powers JM (1984) Neuroblastic medulloblastoma with abundant cytoplasmic actin filaments. Arch Pathol Lab Med 108:326–329PubMedGoogle Scholar
  4. 4.
    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 32:156–162CrossRefPubMedGoogle Scholar
  5. 5.
    Burger P, Yu I-T, 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 22:1083–1092CrossRefPubMedGoogle Scholar
  6. 6.
    Dekker A, Krause JR (1973) Hyaline globules in human neoplasms. A report of three autopsy cases. Arch Pathol 95:178–181PubMedGoogle Scholar
  7. 7.
    Ho DM, Hsu CY, Wong TT, Ting LT, Chiang H (2000) Atypical teratoid/rhabdoid tumor of the central nervous system: a comparative study with primitive neuroectodermal tumor/medulloblastoma. Acta Neuropathol 99:482–488CrossRefPubMedGoogle Scholar
  8. 8.
    Horiguchi H, Hirose T, Sano T, Nagahiro S, Seki K, Fujimoto N, Kaneko F, Kusaka K (2000) Meninigioma with granulofilamentous inclusions. Ultrastruct Pathol 24:267–271CrossRefPubMedGoogle Scholar
  9. 9.
    Judkins AR, Mauger J, Rorke LB, Biegel JA (2004) Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol 28:644–650PubMedGoogle Scholar
  10. 10.
    Kawano K, Ohba Y, Nagashima K (2000) Eosinophilic inclusions in ependymoma represent microlumina: a light and electron microscopic study. Acta Neuropathol 99:214–218PubMedGoogle Scholar
  11. 11.
    Kawasaki K, Takahashi H, Kaneko H, Sato H, Ikuta F (1993) Novel intracytoplasmic inclusion bodies in a meningioma. Cancer 72:2675–2679PubMedGoogle Scholar
  12. 12.
    Kodet R, Newton Jr WA, Hamoudi AB, Asmar L (1991) Rhabdomyosarcoma with intermediate-filament inclusions and features of rhabdoid tumors. Am J Surg Pathol 15:257–267PubMedGoogle Scholar
  13. 13.
    Lefkowitz IB, Rorke LB, Packer RJ (1987) Atypical teratoid tumor of infancy: definition of an entity. Ann Neurol 22:448–449Google Scholar
  14. 14.
    Lin SL, Wang JS, Huang CS, Tseng HH (1996) Primary intracerebral leiomyoma: a case with eosinophilic inclusions of actin filaments. Histopathology 28:365–369CrossRefPubMedGoogle Scholar
  15. 15.
    Ogino S, Cohen ML, Abdul-Karim FW (1999) Atypical teratoid/rhabdoid tumor of the CNS: cytopathology and immunohistochemistry of insulin-like growth factor-II, insulin-like growth factor receptor type 1, catheppsin D, and Ki-67. Mod Pathol 12:379–385PubMedGoogle Scholar
  16. 16.
    Oka H, Scheithauer BW (1999) Clinicopathological characteristics of atypical teratoid/rhabdoid tumor. Neurol Med Chir (Tokyo) 39:510–518Google Scholar
  17. 17.
    Perry A, Scheithauer BW, Stafford SL, Abell-Aleff PC, Meyer FB (1998) “Rhabdoid meningioma” an aggressive variant. Am J Surg Pathol 22:1482–1490CrossRefPubMedGoogle Scholar
  18. 18.
    Rorke LB, Biegel JA (2000) Atypical teratoid/rhabdoid tumor. In: Kleihues P, Cavenee WK (eds) World Health Organization classification of tumours. Pathology and genetics of tumours of the nervous system. IARC Press, Lyon, pp 145–148Google Scholar
  19. 19.
    Rorke LB, Packer R, Biegel J (1995) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood. J Neurooncol 24:21–28CrossRefPubMedGoogle Scholar
  20. 20.
    Rorke LB, Packer RJ, Biegel JA (1996) Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg 85:56–65PubMedGoogle Scholar
  21. 21.
    Rousseau-Merck M-F, Versteege I, Legrand I, Couturier J, Mairal A, Delattre O, Aurias A (1999) hSNF5/INI1 inactivation is mainly associated with homozygous deletions and mitotic recombinations in rhabdoid tumors. Cancer Res 59:3152–3156PubMedGoogle Scholar
  22. 22.
    Twiss JL, Anderson LJ, Horoupian DS (1993) Globular glial fibrillary acidic protein-reactive cytoplasmic inclusions in ependymoma: an immunoelectron-microscopic study. Acta Neuropathol 85:658–662CrossRefPubMedGoogle Scholar
  23. 23.
    Verstrrge I, Delattre O, Lange J, Rousseau-Merck M-F, Ambros P, Handgretinger R, Aurias A, Delattre O (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394:203–206CrossRefPubMedGoogle Scholar
  24. 24.
    Wyatt-Ashmead J, Kleinschmidt-DeMasters BK, Hill DA, Mierau GW, McGavran L, Thompson SJ, Foreman NK (2001) Rhabdoid glioblastoma. Clin Neuropathol 20:248–255PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • Atsushi Sasaki
    • 1
  • Hideyuki Kurihara
    • 3
  • Shogo Ishiuchi
    • 2
  • Junko Hirato
    • 1
  • Nobuhito Saito
    • 2
  • Yoichi Nakazato
    • 1
  1. 1.Department of Human PathologyGunma University Graduate School of MedicineGunmaJapan
  2. 2.Department of NeurosurgeryGunma University Graduate School of MedicineGunmaJapan
  3. 3.Department of NeurosurgeryKiryu Kousei HospitalGunmaJapan

Personalised recommendations