Loss of INI1 protein expression defines a subgroup of aggressive central nervous system primitive neuroectodermal tumors

Brain Pathology

Volumn 23, Issue 1, 2013, Pages 19-27

  Miller, Suzanne ^a   Ward, Jennifer H ^a   Rogers, Hazel A ^a   Lowe, James ^a,b   Grundy, Richard G ^a  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b QUEEN S MEDICAL CENTRE   (United Kingdom)

Author keywords

ATRT; CNS PNET; EMA; INI1; pineoblastoma; rhabdoid

Indexed keywords

EPITHELIAL MEMBRANE ANTIGEN; INI1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ANTIGEN EXPRESSION; ARTICLE; CENTRAL NERVOUS SYSTEM PRIMITIVE NEUROECTODERM TUMOR; CENTRAL NERVOUS SYSTEM TUMOR; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; NEUROECTODERM TUMOR; PHENOTYPE; PROTEIN DEPLETION; PROTEIN EXPRESSION;

ADOLESCENT; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; CHROMOSOMAL PROTEINS, NON-HISTONE; COHORT STUDIES; DNA-BINDING PROTEINS; FEMALE; HUMANS; INFANT; MALE; MUCIN-1; MUTATION; NEUROECTODERMAL TUMORS, PRIMITIVE; PINEAL GLAND; PINEALOMA; PROTEIN ARRAY ANALYSIS; TRANSCRIPTION FACTORS;

EID: 84870956571     PISSN: 10156305     EISSN: 17503639     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2012.00610.x     Document Type: Article

References (47)

1. Behdad A, Perry A, (2010) Central nervous system primitive neuroectodermal tumors: a clinicopathologic and genetic study of 33 cases. Brain Pathol 20: 441-450.
2. 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. (Pubitemid 29062960)
3. Biegel JA, Fogelgren B, Zhou JY, James CD, Janss AJ, Allen JC, et al, (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. (Pubitemid 30482115)
4. Biegel JA, Kalpana G, Knudsen ES, Packer RJ, Roberts CW, Thiele CJ, et al, (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. (Pubitemid 34074022)
5. 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. (Pubitemid 35340722)
6. Bourdeaut F, Freneaux P, Thuille B, Lellouch-Tubiana A, Nicolas A, Couturier J, et al, (2007) hSNF5/INI1-deficient tumours and rhabdoid tumours are convergent but not fully overlapping entities. J Pathol 211: 323-330. (Pubitemid 46172708)
7. Burger PC, Yu IT, Tihan T, Friedman HS, Strother DR, Kepner JL, et al, (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: 1083-1092. (Pubitemid 28411066)
8. Chen ML, McComb JG, Krieger MD, (2005) Atypical teratoid/rhabdoid tumors of the central nervous system: management and outcomes. Neurosurg Focus 18 (6A): E8.
9. Dunham C, Sugo E, Tobias V, Wills E, Perry A, (2007) Embryonal tumor with abundant neuropil and true rosettes (ETANTR): report of a case with prominent neurocytic differentiation. J Neurooncol 84: 91-98. (Pubitemid 47103449)
10. Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA, (2011) Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer 56: 7-15.
11. Eberhart CG, Brat DJ, Cohen KJ, Burger PC, (2000) Pediatric neuroblastic brain tumors containing abundant neuropil and true rosettes. Pediatr Dev Pathol 3: 346-352. (Pubitemid 30421949)
12. Eberhart CG, Kepner JL, Goldthwaite PT, Kun LE, Duffner PK, Friedman HS, et al, (2002) Histopathologic grading of medulloblastomas: a Pediatric Oncology Group study. Cancer 94: 552-560. (Pubitemid 34081387)
13. Ellison D, (2002) Classifying the medulloblastoma: insights from morphology and molecular genetics. Neuropathol Appl Neurobiol 28: 257-282. (Pubitemid 34989289)
14. Fuller C, Fouladi M, Gajjar A, Dalton J, Sanford RA, Helton KJ, (2006) Chromosome 17 abnormalities in pediatric neuroblastic tumor with abundant neuropil and true rosettes. Am J Clin Pathol 126: 277-283. (Pubitemid 44162575)
15. Gessi M, Giangaspero F, Lauriola L, Gardiman M, Scheithauer BW, Halliday W, et al, (2009) Embryonal tumors with abundant neuropil and true rosettes: a distinctive CNS primitive neuroectodermal tumor. Am J Surg Pathol 33: 211-217.
16. Giangaspero F, Perilongo G, Fondelli MP, Brisigotti M, Carollo C, Burnelli R, et al, (1999) Medulloblastoma with extensive nodularity: a variant with favorable prognosis. J Neurosurg 91: 971-977.
17. Haberler C, Laggner U, Slavc I, Czech T, Ambros IM, Ambros PF, et al, (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. (Pubitemid 44655483)
18. Hasselblatt M, Oyen F, Gesk S, Kordes U, Wrede B, Bergmann M, et al, (2009) Cribriform neuroepithelial tumor (CRINET): a nonrhabdoid ventricular tumor with INI1 loss and relatively favorable prognosis. J Neuropathol Exp Neurol 68: 1249-1255.
19. Hasselblatt M, Gesk S, Oyen F, Rossi S, Viscardi E, Giangaspero F, et al, (2011) Nonsense mutation and inactivation of SMARCA4 (BRG1) in an atypical teratoid/rhabdoid tumor showing retained SMARCB1 (INI1) expression. Am J Surg Pathol 35: 933-935.
20. Hornick JL, Dal Cin P, Fletcher CD, (2009) Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol 33: 542-550.
21. Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, et al, (2009) Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors. Clin Cancer Res 15: 1923-1930.
22. Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, et al, (2006) Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer 47: 279-284. (Pubitemid 44148044)
23. 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. (Pubitemid 38579568)
24. Kim HJ, Kim MH, Kwon J, Kim JY, Park K, Ro JY, (2011) Proximal-type epithelioid sarcoma of the vulva with INI1 diagnostic utility. Ann Diagn Pathol [Epub ahead of print] PMID:21724432.
25. Kohashi K, Oda Y, Yamamoto H, Tamiya S, Oshiro Y, Izumi T, et al, (2008) SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondrosarcoma. Am J Surg Pathol 32: 1168-1174.
26. Korshunov A, Remke M, Gessi M, Ryzhova M, Hielscher T, Witt H, et al, (2010) Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes. Acta Neuropathol 120: 253-260.
27. Kosemehmetoglu K, Kaygusuz G, Bahrami A, Raimondi SC, Kilicarslan K, Yildiz Y, Folpe AL, (2011) Intra-articular epithelioid sarcoma showing mixed classic and proximal-type features: report of 2 cases, with immunohistochemical and molecular cytogenetic INI-1 study. Am J Surg Pathol 35: 891-897.
28. Li M, Lee KF, Lu Y, Clarke I, Shih D, Eberhart C, et al, (2009) Frequent amplification of a chr19q13.41 microRNA polycistron in aggressive primitive neuroectodermal brain tumors. Cancer Cell 16: 533-546.
29. Louis D, Ohgaki H, Wiestler OD, Cavenee WK, (2007) WHO Classification of Tumours of the Central Nervous System, 4th edn. International Agency for Research on Cancer: Lyon.
30. Manjila S, Ray A, Hu Y, Cai DX, Cohen ML, Cohen AR, (2011) Embryonal tumors with abundant neuropil and true rosettes: 2 illustrative cases and a review of the literature. Neurosurg Focus 30: E2.
31. McManamy CS, Lamont JM, Taylor RE, Cole M, Pearson AD, Clifford SC, Ellison DW, (2003) Morphophenotypic variation predicts clinical behavior in childhood non-desmoplastic medulloblastomas. J Neuropathol Exp Neurol 62: 627-632. (Pubitemid 36682635)
32. McManamy CS, Pears J, Weston CL, Hanzely Z, Ironside JW, Taylor RE, et al, (2007) Nodule formation and desmoplasia in medulloblastomas-defining the nodular/desmoplastic variant and its biological behavior. Brain Pathol 17: 151-164. (Pubitemid 46466135)
33. Miller S, Rogers HA, Lyon P, Rand V, Adamowicz-Brice M, Clifford SC, et al, (2011) Genome-wide molecular characterization of central nervous system primitive neuroectodermal tumor and pineoblastoma. Neuro Oncol 13: 866-879.
34. Mobley BC, McKenney JK, Bangs CD, Callahan K, Yeom KW, Schneppenheim R, et al, (2010) Loss of SMARCB1/INI1 expression in poorly differentiated chordomas. Acta Neuropathol 120: 745-753.
35. Modena P, Lualdi E, Facchinetti F, Galli L, Teixeira MR, Pilotti S, Sozzi G, (2005) SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res 65: 4012-4019. (Pubitemid 40775637)
36. Pfister S, Remke M, Castoldi M, Bai AH, Muckenthaler MU, Kulozik A, et al, (2009) Novel genomic amplification targeting the microRNA cluster at 19q13.42 in a pediatric embryonal tumor with abundant neuropil and true rosettes. Acta Neuropathol 117: 457-464.
37. Raffel C, Rutka JT, (2011) Central nervous system primitive neuroectodermal tumors: still a useful classification? Neurosurg Focus 30: Introduction.
38. Raoux D, Peoc'h M, Pedeutour F, Vaunois B, Decouvelaere AV, Folpe AL, (2009) Primary epithelioid sarcoma of bone: report of a unique case, with immunohistochemical and fluorescent in situ hybridization confirmation of INI1 deletion. Am J Surg Pathol 33: 954-958.
39. Rogers HA, Miller S, Lowe J, Brundler MA, Coyle B, Grundy RG, (2009) An investigation of WNT pathway activation and association with survival in central nervous system primitive neuroectodermal tumours (CNS PNET). Br J Cancer 100: 1292-1302.
40. Rorke LB, (1987) Classification of central nervous system tumors in children. Prog Exp Tumor Res 30: 57-60.
41. 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. (Pubitemid 26195038)
42. Schmitz U, Mueller W, Weber M, Sevenet N, Delattre O, von, Deimling A, (2001) INI1 mutations in meningiomas at a potential hotspot in exon 9. Br J Cancer 84: 199-201. (Pubitemid 32113446)
43. Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, et al, (2010) Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet 86: 279-284.
44. Sevenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, et al, (1999) Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum Mol Genet 8: 2359-2368.
45. Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, et al, (1998) Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 394: 203-206. (Pubitemid 28325977)
46. Wang Y, Chu SG, Xiong J, Cheng HX, Chen H, Yao XH, (2011) Embryonal tumor with abundant neuropil and true rosettes (ETANTR) with a focal amplification at chromosome 19q13.42 locus: further evidence of two new instances in China. Neuropathology 31: 639-647.
47. Weber M, Stockhammer F, Schmitz U, von, Deimling A, (2001) Mutational analysis of INI1 in sporadic human brain tumors. Acta Neuropathol 101: 479-482. (Pubitemid 32600137)