Atypical teratoid/rhabdoid tumor arising in a ganglioglioma: Genetic characterization

American Journal of Surgical Pathology

Volumn 35, Issue 12, 2011, Pages 1894-1901

  Kleinschmidt Demasters, B K ^a,b   Birks, Diane K ^b,c   Aisner, Dara L ^a   Hankinson, Todd C ^b,c   Rosenblum, Marc K ^d  

^a MS F768 ^*  (United States)

^b UNIVERSITY OF COLORADO   (United States)

^c CHILDREN S HOSPITAL COLORADO   (United States)

^d MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

BRAF; ganglioglioma; INI 1; monosomy 22; postclonal evolution; rhabdoid; SMARCB1; V600E

Indexed keywords

B RAF KINASE; BRAF PROTEIN, HUMAN; DNA BINDING PROTEIN; NONHISTONE PROTEIN; SMARCB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; BRAIN TUMOR; CASE REPORT; CHILD; GENETICS; GLIOMA; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MULTIPLE CANCER; MUTATION; PATHOLOGY; RHABDOID TUMOR; TERATOMA;

BRAIN NEOPLASMS; CHILD; CHROMOSOMAL PROTEINS, NON-HISTONE; DNA-BINDING PROTEINS; GANGLIOGLIOMA; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; NEOPLASMS, MULTIPLE PRIMARY; PROTO-ONCOGENE PROTEINS B-RAF; RHABDOID TUMOR; TERATOMA; TRANSCRIPTION FACTORS;

EID: 81355138920     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e3182382a3f     Document Type: Article

References (18)

1. Allen JC, Judkins AR, Rosenblum MK, et al. Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study. Neuro Oncol. 2006;8:79-82. (Pubitemid 43154454)
2. Bouffard JP, Sandberg GD, Golden JA, et al. Double immunolabeling of central nervous system atypical teratoid/rhabdoid tumors. Mod Pathol. 2004;17:679-683. (Pubitemid 38715490)
3. Chacko G, Chacko AG, Dunham CP, et al. Atypical teratoid/rhabdoid tumor arising in the setting of a pleomorphic xanthoastrocytoma. J Neurooncol. 2007;84:217-222. (Pubitemid 47202132)
4. Donner LR, Wainwright LM, Zhang F, et al. Mutation of the INI1 gene in composite rhabdoid tumor of the endometrium. Hum Pathol. 2007;38:935-939. (Pubitemid 46726513)
5. Dougherty MJ, Santi M, Brose MS, et al. Activating mutations in BRAF characterize a spectrum of pediatric low-grade gliomas. Neuro Oncol. 2010;12:621-630.
6. Fuller CE, Pfeifer J, Humphrey P, et al. Chromosome 22q dosage in composite extrarenal rhabdoid tumors: clonal evolution or a phenotypic mimic? Hum Pathol. 2001;32:1102-1108. (Pubitemid 33015671)
7. Hasselblatt M, Oyen F, Gesk S, et al. Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. J Neuropathol Exp Neurol. 2009;68:1249-1255.
8. Hornick JL, Dal Cin P, Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009;33:542-550.
9. Judkins AR, Burger PC, Hamilton RL, et al. INI1 protein expression distinguishes atypical teratoid/rhabdoid tumor from choroid plexus carcinoma. J Neuropathol Exp Neurol. 2005;64: 391-397. (Pubitemid 40629129)
10. Judkins AR, Eberhart CG,Wesseling P. Atypical Teratoid/Rhabdoid Tumors. In: Louis DN, Ohgaki H, Wiestler O, et al, eds. WHO Classification of Tumours of the Central Nervous System. Lyon, FR: International Agency for Research on Cancer; 2007:147-149.
11. Judkins AR, Mauger J, Ht A, et al. Immunohistochemical analysis of hSNF5/INI1 in pediatric CNS neoplasms. Am J Surg Pathol. 2004;28:644-650. (Pubitemid 38579568)
12. Kleinschmidt-DeMasters BK, Alassiri AH, Birks DK, et al. Epithelioid versus rhabdoid glioblastomas are distinguished by monosomy 22 and immunohistochemical expression of INI-1 but not claudin 6. Am J Surg Pathol. 2010;34:341-354.
13. Kleinschmidt-DeMasters BK, Meltesen L, McGavran L, et al. Characterization of glioblastomas in young adults. Brain Pathol. 2006;16:273-286.
14. Kreiger PA, Judkins AR, Russo PA, et al. Loss of INI1 expression defines a unique subset of pediatric undifferentiated soft tissue sarcomas. Mod Pathol. 2009;22:142-150.
15. Perry A, Fuller CE, Judkins AR, et al. INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas. Mod Pathol. 2005;18:951-958. (Pubitemid 41059956)
16. Rorke LB, Packer RJ, Biegel JA. Central nervous system atypical teratoid/rhabdoid tumors of infancy and childhood: definition of an entity. J Neurosurg. 1996;85:56-65. (Pubitemid 26195038)
17. Schindler G, Capper D, Meyer J, et al. Analysis of BRAF V600E mutation in 1320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma. Acta Neuropathol. 2011;121: 397-405.
18. Wick MR, Ritter JH, Dehner LP. Malignant rhabdoid tumors: a clinicopathologic review and conceptual discussion. Semin Diagn Pathol. 1995;12:233-248.