Analysis of chromosome 19q13.42 amplification in embryonal brain tumors with ependymoblastic multilayered rosettes

Brain Pathology

Volumn 22, Issue 5, 2012, Pages 689-697

  Nobusawa, Sumihito ^a   Yokoo, Hideaki ^a   Hirato, Junko ^b   Kakita, Akiyoshi ^c   Takahashi, Hitoshi ^c   Sugino, Takashi ^d   Tasaki, Kazuhiro ^e   Itoh, Hideaki ^f   Hatori, Tsutomu ^g   Shimoyama, Yoshie ^h   Nakazawa, Atsuko ⁱ   Nishizawa, Shigeru ^j   Kishimoto, Hiroshi ^k   Matsuoka, Keiko ^l   Nakayama, Masahiro ^l   Okura, Naoki ^m   Nakazato, Yoichi ^a  

^a GUNMA UNIVERSITY   (Japan)

^b GUNMA UNIVERSITY HOSPITAL   (Japan)

^c NIIGATA UNIVERSITY   (Japan)

^d Department of Basic Pathology ^*  (Japan)

^e FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^f MAEBASHI RED CROSS HOSPITAL   (Japan)

^g TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h NAGOYA UNIVERSITY HOSPITAL   (Japan)

ⁱ NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^j UNIVERSITY OF OCCUPATIONAL AND ENVIRONMENTAL HEALTH   (Japan)

^k SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^l RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^m UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

19q13.42; embryonal tumor with multilayered rosettes; ependymoblastic rosettes; ependymoblastoma; ETANTR; medulloepithelioma

Indexed keywords

MICRORNA; SYNAPTOPHYSIN;

ADULT; ARTICLE; CHILD; CHROMOSOME 19Q; CLINICAL ARTICLE; EMBRYONAL TUMOR WITH ABUNDANT NEUROPIL AND TRUE ROSETTE; EMBRYONAL TUMOR WITH MULTILAYERED ROSETTE; EPENDYMOBLASTOMA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE LOCUS; GENE OVEREXPRESSION; GERM CELL TUMOR; HUMAN; HUMAN TISSUE; INFANT; MALE; NEUROECTODERM TUMOR; NEUROEPITHELIOMA; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RHABDOID TUMOR; SCHOOL CHILD; TERATOMA;

ADULT; BRAIN NEOPLASMS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; GENE AMPLIFICATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEOPLASMS, GERM CELL AND EMBRYONAL; NEUROECTODERMAL TUMORS, PRIMITIVE; NEUROPIL; SYNAPTOPHYSIN;

EID: 84865510309     PISSN: 10156305     EISSN: 17503639     Source Type: Journal    
DOI: 10.1111/j.1750-3639.2012.00574.x     Document Type: Article

References (38)

1. Adesina AM, Hunter JV, Rorke-Adams LB, (2010) Atypical teratoid rhabdoid tumours. In: Atlas of Pediatric Brain Tumors., AM Adesina, T Tihan, CE Fuller, TY Poussaint, (eds), pp. 95-107. Springer: New York, Dordrecht, Heidelberg, London.
2. Al-Hussaini M, Abuirmeileh N, Swaidan M, Al-Jumaily U, Rajjal H, Musharbash A, et al, (2011) Embryonal tumor with abundant neuropil and true rosettes: a report of three cases of a rare tumor, with an unusual case showing rhabdomyoblastic and melanocytic differentiation. Neuropathology 31: 620-625.
3. Auer RN, Becker LE, (1983) Cerebral medulloepithelioma with bone, cartilage, and striated muscle. Light microscopic and immunohistochemical study. J Neuropathol Exp Neurol 42: 256-267. (Pubitemid 13099609)
4. Barkovich AJ, Moore KR, Grant E, Jones BV, Vezina G, Koch BL, et al, (2007) Diagnostic Imaging: Pediatric Neuroradiology. Amyrsis: Salt Lake City, UT.
5. Buccoliero AM, Castiglione F, Degl'Innocenti DR, Franchi A, Paglierani M, Sanzo M, et al, (2010) Embryonal tumor with abundant neuropil and true rosettes: morphological, immunohistochemical, ultrastructural and molecular study of a case showing features of medulloepithelioma and areas of mesenchymal and epithelial differentiation. Neuropathology 30: 84-91.
6. Burger PC, Scheithauer BW, (2007) AFIP Atlas of Tumor Pathology, Fourth Series, Fascicle 7, Tumors of the Central Nervous System, pp. 279-283. Armed Forces Institute of Pathology: Washington DC.
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. Deck JH, (1969) Cerebral medulloepithelioma with maturation into ependymal cells and ganglion cells. J Neuropathol Exp Neurol 28: 442-454.
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. Eberhart CG, (2011) Molecular diagnostics in embryonal brain tumors. Brain Pathol 21: 96-104.
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. Fan X, Wang Y, Kratz J, Brat DJ, Robitaille Y, Moghrabi A, et al, (2003) hTERT gene amplification and increased mRNA expression in central nervous system embryonal tumors. Am J Pathol 162: 1763-1769. (Pubitemid 36613035)
13. Ferri Niguez B, Martínez-Lage JF, Almagro MJ, Fuster JL, Serrano C, Torroba MA, Sola J, (2010) Embryonal tumor with abundant neuropil and true rosettes (ETANTR): a new distinctive variety of pediatric PNET: a case-based update. Childs Nerv Syst 26: 1003-1008.
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. Gessi M, Pfister S, Hans VH, Korshunov A, Pietsch T, (2011) Absence of chromosome 19q13.41 amplification in a case of atypical teratoid/rhabdoid tumor with ependymoblastic differentiation. Acta Neuropathol 121: 283-285.
17. 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.
18. Judkins AR, Ellison DW, (2010) Ependymoblastoma: dear, damned, distracting diagnosis, farewell! Brain Pathol 20: 133-139.
19. 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.
20. Laurent LC, Chen J, Ulitsky I, Mueller FJ, Lu C, Shamir R, et al, (2008) Comprehensive microRNA profiling reveals a unique human embryonic stem cell signature dominated by a single seed sequence. Stem Cells 26: 1506-1516.
21. 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.
22. Li SS, Yu SL, Kao LP, Tsai ZY, Singh S, Chen BZ, et al, (2009) Target identification of microRNAs expressed highly in human embryonic stem cells. J Cell Biochem 106: 1020-1030.
23. McLendon RE, Judkins AR, Eberhart CG, Fuller GN, Sarkar C, Ng HK, (2007) Central nervous system primitive neuroectodermal tumours. In: WHO Classification of Tumours of the Central Nervous System., DN Louis, H Ohgaki, OD Wiestler, WK Cavenee, (eds), Chapter 8, pp. 141-146. IARC Press: Lyon.
24. Nakazato Y, Ishizeki J, Takahashi K, Yamaguchi H, Kamei T, Mori T, (1982) Localization of S-100 protein and glial fibrillary acidic protein-related antigen in pleomorphic adenoma of the salivary glands. Lab Invest 46: 621-626. (Pubitemid 12081999)
25. Ohgaki H, Dessen P, Jourde B, Horstmann S, Nishikawa T, Di Patre PL, et al, (2004) Genetic pathways to glioblastoma: a population-based study. Cancer Res 64: 6892-6899. (Pubitemid 39330996)
26. Paulus W, Kleihues P, (2010) Genetic profiling of CNS tumors extends histological classification. Acta Neuropathol 120: 269-270.
27. 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.
28. Pfister SM, Korshunov A, Kool M, Hasselblatt M, Eberhart C, Taylor MD, (2010) Molecular diagnostics of CNS embryonal tumors. Acta Neuropathol 120: 553-566.
29. Ren J, Jin P, Wang E, Marincola FM, Stroncek DF, (2009) MicroRNA and gene expression patterns in the differentiation of human embryonic stem cells. J Transl Med 7: 20.
30. Rickert CH, Hasselblatt M, (2006) Cytogenetic features of ependymoblastomas. Acta Neuropathol 111: 559-562. (Pubitemid 43778960)
31. Rippe V, Dittberner L, Lorenz VN, Drieschner N, Nimzyk R, Sendt W, et al, (2010) The two stem cell microRNA gene clusters C19MC and miR-371-3 are activated by specific chromosomal rearrangements in a subgroup of thyroid adenomas. PLoS ONE 5: e9485.
32. Rollbrocker B, Waha A, Louis DN, Wiestler OD, von Deimling A, (1996) Amplification of the cyclin-dependent kinase 4 (CDK4) gene is associated with high cdk4 protein levels in glioblastoma multiforme. Acta Neuropathol 92: 70-74. (Pubitemid 26192085)
33. 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)
34. Rosenblum MK, Nakazato Y, Matsutani M, (2007) CNS germ cell tumors. In: WHO Classification of Tumours of the Central Nervous System., DN Louis, H Ohgaki, OD Wiestler, WK Cavenee, (eds), Chapter 8, pp. 141-146. IARC Press: Lyon.
35. Tohma Y, Gratas C, Biernat W, Peraud A, Fukuda M, Yonekawa Y, et al, (1998) PTEN (MMAC1) mutations are frequent in primary glioblastomas (de novo) but not in secondary glioblastomas. J Neuropathol Exp Neurol 57: 684-689. (Pubitemid 28335057)
36. Voorhoeve PM, le Sage C, Schrier M, Gillis AJ, Stoop H, Nagel R, et al, (2006) A genetic screen implicates miRNA-372 and miRNA-373 as oncogenes in testicular germ cell tumors. Cell 124: 1169-1181.
37. Woehrer A, Slavc I, Peyrl A, Czech T, Dorfer C, Prayer D, et al, (2011) Embryonal tumor with abundant neuropil and true rosettes (ETANTR) with loss of morphological but retained genetic key features during progression. Acta Neuropathol 122: 787-790.
38. Yokoo H, Kinjo S, Hirato J, Nakazato Y, (2006) Fluorescence in situ hybridization targeted for chromosome 1p of oligodendrogliomas (in Japanese). Rinsho Kensa 50: 761-766.