Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndrome

Acta Neuropathologica

Volumn 113, Issue 3, 2007, Pages 339-346

  Beschorner, Rudi ^a   Wehrmann, Manfred ^b   Ernemann, Ulrike ^a   Bonin, Michael ^a   Horber, Veronka ^a   Oehl Jaschkowitz, Barbara ^c   Meyermann, Richard ^a   Dufke, Andreas ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c Biomedical Center   (Germany)

Author keywords

Ependymoblastoma; Extradural ependymoma; Myxopapillary ependymoma; Schinzel Giedion syndrome

Indexed keywords

ALKALINE PHOSPHATASE PLACENTA ISOENZYME; ALPHA FETOPROTEIN; CYTOKERATIN; GENOMIC DNA; GLIAL FIBRILLARY ACIDIC PROTEIN; MICROTUBULE ASSOCIATED PROTEIN 2; NEUROFILAMENT PROTEIN; PROTEIN S 100; SYNAPTOPHYSIN;

ACROCALLOSAL SYNDROME; ANAMNESIS; ARTICLE; BRAIN SCINTISCANNING; BRAIN SURGERY; CANCER SURGERY; CASE REPORT; CHILDHOOD CANCER; CHROMOSOME ANALYSIS; CONTRAST ENHANCEMENT; EPENDYMOBLASTOMA; EPENDYMOMA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; GENOME ANALYSIS; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; IMMUNOHISTOCHEMISTRY; MALE; MIDFACE HYPOPLASIA; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTOPERATIVE PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SINGLE NUCLEOTIDE POLYMORPHISM; SPINE RADIOGRAPHY; TUMOR LOCALIZATION; TUMOR VOLUME;

CENTRAL NERVOUS SYSTEM NEOPLASMS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; EPENDYMOMA; GENETIC DISEASES, INBORN; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; REVIEW LITERATURE; SACROCOCCYGEAL REGION;

EID: 33947369492     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-006-0179-0     Document Type: Article

References (39)

1. Altug Teber O, Dufke A, Poths S, Mau Holzmann UA, Bastepe M, Colleaux L, Cormier Daire V, Eggermann T, Gillessen Kaesbach G, Bonin M, Riess O (2005) A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat 26:153-159
2. Antich J, Manzanares R, Camarasa F, Krauel X, Vila J, Cusi V (1995) Schinzel-Giedion syndrome: Report of two sibs. Am J Med Genet 59:96-99
3. Awaya H, Kaneko M, Amatya VJ, Takeshima Y, Oka S, Inai K (2003) Myxopapillary ependymoma with anaplastic features. Pathol Int 53:700-703
4. Bale PM (1984) Sacrococcygeal developmental abnormalities and tumors in children. Perspect Pediatr Pathol 8:9-56
5. Becker LE, Cruz-Sanchez FF (2000) Ependymoblastoma. In: Kleihues P, Cavenee WK (eds) Pathology and genetics: Tumors of the central nervous system. IARC, Lyon, pp 127-128
6. Beroukhim R, Lin M, Park Y, Hao K, Zhao X, Garraway LA, Fox EA, Hochberg EP, Mellinghoff IK, Hofer MD, Descazeaud A, Rubin MA, Meyerson M, Wong WH, Sellers WR, Li C (2006) Inferring loss-of-heterozygosity from unpaired tumors using high-density oligonucleotide SNP arrays. Plos Comput Biol 2:e41
7. Burck U (1982) Mittelgesichtshypoplasie, Skelettanomalien, Apnoen, Retardierung-eine weitere Beobachtung. Tolksdorf, M. and Spranger, J. Klinische Genetik in der Paediatrie. Wissenschaftliche Information 3. Symposium in Kiel/Germany(Jahrgang 8, Heft 5), Friedrichsdorf, Germany, Milupa, pp 351-358
8. Burger PC, Scheithauer BW, Vogel FS (2002) The brain: Tumors. In: Burger PC, Scheithauer BW, Vogel FS (eds) Surgical pathology of the nervous system and its coverings. Churchill Livingstone, New York, pp 160-378
9. Crotty TB, Hooker RP, Swensen SJ, Scheithauer BW, Myers JL (1992) Primary malignant ependymoma of the lung. Mayo Clin Proc 67:373-378
10. Davis C, Barnard RO (1985) Malignant behavior of myxopapillary ependymoma. Report of three cases. J Neurosurg 62:925-929
11. Fassett DR, Schmidt MH (2003) Lumbosacral ependymomas: A review of the management of intradural and extradural tumors. Neurosurg Focus 15:1-5
12. Grosso S, Pagano C, Cioni M, Di Bartolo RM, Morgese G, Balestri P (2003) Schinzel-Giedion syndrome: A further cause of West syndrome. Brain Dev 25:294-298
13. Guerrieri C, Jarlsfelt I (1993) Ependymoma of the ovary. A case report with immunohistochemical, ultrastructural, and DNA cytometric findings, as well as histogenetic considerations. Am J Surg Pathol 17:623-632
14. Hofman V, Isnard V, Chevallier A, Motamedi JP, Michiels JF, Hassoun J, Hofman P (2001) Pelvic ependymoma arising from the small bowel. Pathology 33:26-29
15. Kleinman GM, Young RH, Scully RE (1993) Primary neuroectodermal tumors of the ovary. A report of 25 cases. Am J Surg Pathol 17:764-778
16. Komuro Y, Mikami M, Sakaiya N, Kurahashi T, Komiyama S, Tei C, Mukai M, Hirose T (2001) Tumor imprint cytology of ovarian ependymoma. A case report. Cancer 92:3165-3169
17. Kondoh T, Kamimura N, Tsuru A, Matsumoto T, Matsuzaka T, Moriuchi H (2001) A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy. Pediatr Int 43:181-184
18. Lantos PL, Louis DN, Rosenblum MK, Kleihues P (2000) Tumours of the nervous system. In: Graham DI, Lantos PL (eds) Greenfields Neuropathology. Arnold, London, pp 767-1052
19. Marchevsky AM (1995) Lung tumors derived from ectopic tissues. Semin Diagn Pathol 12:172-184
20. Martin GA, Aranha GV, Castelli MJ, Gattuso P (1996) Fine-needle aspiration diagnosis of metastatic anaplastic sacrococcygeal ependymoma to the lungs. Diagn Cytopathol 15:228-230
21. Matsumoto F, Tohda A, Shimada K, Okamoto N (2005) Malignant retroperitoneal tumor arising in a multicystic dysplastic kidney of a girl with Schinzel-Giedion syndrome. Int J Urol 12:1061-1062
22. McPherson E, Clemens M, Hoffner L, Surti U (1998) Sacral tumors in Schinzel-Giedion syndrome. Am J Med Genet 79:62-63
23. Minn D, Christmann D, Saint Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H (2002) Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases. Am J Med Genet 109:211-217
24. Morantz RA, Kepes JJ, Batnitzky S, Masterson BJ (1979) Extraspinal ependymomas. Report of three cases. J Neurosurg 51:383-391
25. Newton HB, Henson J, Walker RW (1992) Extraneural metastases in ependymoma. J Neurooncol 14:135-142
26. Rauch A, Ruschendorf F, Huang J, Trautmann U, Becker C, Thiel C, Jones KW, Reis A, Nurnberg P (2004) Molecular karyotyping using an SNP array for genomewide genotyping. J Med Genet 41:916-922
27. Robin NH, Grace K, DeSouza TG, McDonald McGinn D, Zackai EH (1993) New finding of Schinzel-Giedion syndrome: A case with a malignant sacrococcygeal teratoma. Am J Med Genet 47:852-856
28. Rodriguez JI, Jimenez Heffernan JA, Leal J (1994) Schinzel-Giedion syndrome: Autopsy report and additional clinical manifestations. Am J Med Genet 53:374-377
29. Saal H, Rosenbaum KN, Samango-Sprouse CA (1989) The Schinzel-Giedion syndrome: Insight into phenotype and natural history. Pediatr Res 25/ 4(2):78A
30. Sandri A, Manazza AD, Bertin D, Silengo M, Basso ME, Forni M, Madon E (2003) Schinzel-Giedion syndrome with sacrococcygeal teratoma. J Pediatr Hematol Oncol 25:558-561
31. Schinzel A, Giedion A (1978) A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet 1:361-375
32. Shah AM, Smith MF, Griffiths PD, Quarrell OW (1999) Schinzel-Giedion syndrome: Evidence for a neurodegenerative process. Am J Med Genet 82:344-347
33. Strunk T, Schultz C, Gottschalk S, Reusche E, Bucsky P (2003) Anaplastic ependymoma with pleuropulmonary relapse. Med Pediatr Oncol 41:467-468
34. Wang Z, Huang G, Yan P, Liang R, Wang J, Yan Q, Zhang J, Cheng H, Hu P, Ma MJ (2005) Ectopic cervical anaplastic ependymoma. Pathol Int 55:781-784
35. Wiendl H, Feiden W, Scherieble H, Renz T, Dichgans J, Weller M (2003) A 41-year-old female with a solitary lesion in the liver. Brain Pathol 13:421-423
36. Wiestler OD, Schiffer D, Coons SW, Prayson RA, Rosenblum MK (2000) Anaplastic ependymoma. In: Kleihues P, Cavenee WK (eds) Pathology and genetics: Tumors of the central nervous system. IARC, Lyon, pp 76-77
37. Wiestler OD, Schiffer D, Coons SW, Prayson RA, Rosenblum MK (2000) Ependymoma. In: Kleihues P, Cavenee WK (eds) Pathology and genetics: tumors of the central nervous system. IARC, Lyon, pp 72-76
38. Wiestler OD, Schiffer D, Coons SW, Prayson RA, Rosenblum MK (2000) Myxopapillary ependymoma. In: Kleihues P, Cavenee WK (eds) Pathology and genetics: Tumors of the central nervous system. IARC, Lyon, pp 78-79
39. Wilson RW, Moran CA (1998) Primary ependymoma of the mediastinum: A clinicopathologic study of three cases. Ann Diagn Pathol 2:293-300