Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Nervous system: Ependymomas

Identity

Phylum Nervous system:CNS:Glioma:Ependymal tumor:Ependymoma
Note Ependymomal neoplasms are tumors of children and young adults, originating from the cerebral ventricle or from the spinal canal. In the central nervous system (CNS), they account for 3 ‚ 9 % of all neuro-epithelial tumors .

Classification

Note Histological feature of ependymoma : perivascular rosettes - Anne Marie Capodano
    Ependymomas are well-delineated moderately cellular gliomas. Histolological features are perivascular pseudo rosettes and ependymal rosettes WHO classification differentiate four major types :
  • 1. Ependymoma and variants (grade II) :
    - Cellular ependymoma : a variant of ependymoma with conspicuous cellularity but often less prominent pseudo-rosette or rosette formation.
    - Papillary ependymoma : a rare variant which looks like choroid plexus papilloma.
    - Clear cell ependymoma : a rare variant which may be confused with oligodendroglioma neurocytoma or metastatic renal cell carcinoma.

  • 2. Anaplastic (malignant) ependymoma (grade III) : An ependymoma with histological evidence of anaplasia.
  • 3. Myxopapillary ependymoma (grade I) : It occurs almost exclusively in the conus-cauda-filum terminale region, with a generally favourable prognosis.
  • 4. Subependymoma (grade I) : Benign tumor composed of nests of ependymomal cells in a dense glial fibrillary matrix
  • Clinics and Pathology

    Epidemiology
  • In children, 30 % of ependymomas appear before the age of 3 years and are more aggressive than in adults. Nearly 90 % of pediatric ependymomas are intra cranial : they occur in supratentorial or posterior fossa locations, and only 10 % are intraspinal. Ependymomas account for 6 to 12 % of brain tumors in children and represent the third most common central nervous system neoplasms in this age range, following astrocytoma and medulloblastoma.
  • In adults, 60 % of ependymomas are tumors of spinal cord and only 40 % are intracranial. Intramedullary spinal ependymomas can be seen in patients with neurofibromatosis type 2 (NF2), a hereditary disease. Clustering of ependymomas has been noted in some families suggesting inheritance of a genetic susceptibility to this type of tumor.
  • Clinics Clinical manifestations of these tumors are localization dependent.
    Pathology Immunochemistry: The great majority of ependymomas display GFAP immunoreactivity. It is usually observed in pseudo-rosettes, but GFAP is not specific of ependymomas. It is observed in all gliomas. Ependymomas typically express S 100 protein and Vimentin. In ependymomas WHO grade II, epithelial membrane antigen (EMA) immunoreactivity has been reported.
    Treatment The treatment of ependymomas is mainly exeresis of tumor and radiotherapy after exeresis
    Prognosis Ependymoma is a recurrent tumor. The identification of parameters with prognostic value in ependymomas is very important, but controverted. By order of importance the following factors are considered :
  • Age and extent of resection Prognosis in children is significantly worse than in adults. The childrenžs cancer group reported a 5 year progression-free survival of 5 % in children with intracranial ependymomas. A retrospective analysis of 83 pediatric ependymomas revealed are below 3 years incomplete tumour resection as indication of a poor outcome.
    In adult patients survival at 10 years is 45 %.
    Complete or near complete resection emerged as an independent prognostic factor.
  • Localization Supratentorial ependymomas are associated with better survival rates compared to posterior fossa tumors.
    Spinal ependymomas are associated with better outcome than cerebral tumors. Cerebrospinal localization shows a poor prognosis.
  • Cytogenetics

    Cytogenetics
    Morphological
  • No specific cytogenetic abnormality has been described. But ependymomas with 30 % incidence of aberrations involve chromosome 22 as the most frequent change. Monosomy 22 as well as deletions or translocations involving 22q can appear
  • Less frequent are structural abnormalities of chromosomes 1, 6, and 17 and numerical abnormalities of 7, 9, 12 and 20.
  • Monosomy 10 was reported in few cases of anaplastic ependymomas associated with LOH of 17p.
  • Monosomy 13 was observed in eight cases half of which occurred in paediatrics patients.
  • Rearrangements or deletions of chromosome 6 were reported in five tumors.
  • Partial karyotype of a cell of ependymoma : 46, XX, del(22)(q11) with R-banding - Anne Marie Capodano

    Genes involved and Proteins

    Note
  • Genes involved in ependymomas remain to be uncovered. Mutations or deletions of the tumor suppressor genes CDKN2 A et CDKN2 B and amplification of CDK4 or CCND1 have been reported. Mutations of TP53 were occasionally observed in ependymomas.
  • Increased incidence of ependymomas in neurofibromatosis type 2 has suggest that NF2 represents an obvious candidate gene. Some authors have presented evidence for mutations of NF2 suppressor gene at 22 q12 . Whereas others have been unable to identify such mutations of the NF2.
  • Investigators show that the most frequently recurrent genomic loss in ependymomas does not involve the proximal 22 q11.2 chromosome region. They suggest that another not-yet identified tumor suppressor gene located distally to the HSNF5 / INT1 locus on the 22q and independent of NF2 locus may be involved in ependymomas.

  • Other genes implicated (Data extracted from papers in the Atlas)

    Genes CBFA2T3 LRIG1 NF2 SOX4 TACC2

    Translocations implicated (Data extracted from papers in the Atlas)

    External links

    Mitelman databaseTopo ( Central_nervous_system_(all_sites) ) - Morpho ( Ependym ) - Mitelman database (CGAP - NCBI)
    COSMICHisto = - Site = central_nervous_system (COSMIC)
    Other databaseEpendymoma (St. Jude Children's Research Hospital, USA)
    Other databaseEpendymoma (UCLA Division of Neurosurgery, USA)

    Bibliography

    An immunocytochemical comparison of the glia-associated proteins glial fibrillary acidic protein (GFAP) and S-100 protein (S100P) in human brain tumors.
    Kimura T, Budka H, Soler-Federsppiel S
    Clinical neuropathology. 1986 ; 5 (1) : 21-27.
    PMID 3512139
     
    Cytogenetic abnormalities in human ependymomas.
    Stratton MR, Darling J, Lantos PL, Cooper CS, Reeves BR
    International journal of cancer. Journal international du cancer. 1989 ; 44 (4) : 579-581.
    PMID 2793229
     
    Cancer in the families of children with soft tissue sarcoma.
    Birch JM, Hartley AL, Blair V, Kelsey AM, Harris M, Teare MD, Jones PH
    Cancer. 1990 ; 66 (10) : 2239-2248.
    PMID 2224780
     
    The new WHO classification of brain tumours.
    Kleihues P, Burger PC, Scheithauer BW
    Brain pathology (Zurich, Switzerland). 1993 ; 3 (3) : 255-268.
    PMID 8293185
     
    Adult intramedullary spinal cord ependymomas: the result of surgery in 38 patients.
    Epstein FJ, Farmer JP, Freed D
    Journal of neurosurgery. 1993 ; 79 (2) : 204-209.
    PMID 8331401
     
    Chromosomes in the genesis and progression of ependymomas.
    Rogatto SR, Casartelli C, Rainho CA, Barbieri-Neto J
    Cancer genetics and cytogenetics. 1993 ; 69 (2) : 146-152.
    PMID 8402555
     
    The putative glioma tumor suppressor gene on chromosome 19q maps between APOC2 and HRC.
    Rubio MP, Correa KM, Ueki K, Mohrenweiser HW, Gusella JF, von Deimling A, Louis DN
    Cancer research. 1994 ; 54 (17) : 4760-4763.
    PMID 8062276
     
    Intracranial ependymomas of childhood: long-term outcome and prognostic factors.
    Pollack IF, Gerszten PC, Martinez AJ, Lo KH, Shultz B, Albright AL, Janosky J, Deutsch M
    Neurosurgery. 1995 ; 37 (4) : 655-666.
    PMID 8559293
     
    Prognostic relevance of localization and grading in intracranial ependymomas of childhood.
    Ernestus RI, Schrˆder R, Stˆštzer H, Klug N
    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. 1996 ; 12 (9) : 522-526.
    PMID 8906366
     
    Infrequent alterations of the p15, p16, CDK4 and cyclin D1 genes in non-astrocytic human brain tumors.
    Sato K, Schˆ§uble B, Kleihues P, Ohgaki H
    International journal of cancer. Journal international du cancer. 1996 ; 66 (3) : 305-308.
    PMID 8621248
     
    The molecular biology of ependymomas.
    Hamilton RL, Pollack IF
    Brain pathology (Zurich, Switzerland). 1997 ; 7 (2) : 807-822.
    PMID 9161731
     
    Multiple ependymomas in a patient with Turcot's syndrome.
    Torres CF, Korones DN, Pilcher W
    Medical and pediatric oncology. 1997 ; 28 (1) : 59-61.
    PMID 8950338
     
    Molecular cytogenetic studies of pediatric ependymomas.
    Kramer DL, Parmiter AH, Rorke LB, Sutton LN, Biegel JA
    Journal of neuro-oncology. 1998 ; 37 (1) : 25-33.
    PMID 9525835
     
    Survival and prognostic factors following radiation therapy and chemotherapy for ependymomas in children: a report of the Children's Cancer Group.
    Robertson PL, Zeltzer PM, Boyett JM, Rorke LB, Allen JC, Geyer JR, Stanley P, Li H, Albright AL, McGuire-Cullen P, Finlay JL, Stevens KR Jr, Milstein JM, Packer RJ, Wisoff J
    Journal of neurosurgery. 1998 ; 88 (4) : 695-703.
    PMID 9525716
     
    Prognostic factors in childhood intracranial ependymomas: the role of age and tumor location.
    Sala F, Talacchi A, Mazza C, Prisco R, Ghimenton C, Bricolo A
    Pediatric neurosurgery. 1998 ; 28 (3) : 135-142.
    PMID 9705591
     
    A multi-institutional retrospective study of intracranial ependymoma in children: identification of risk factors.
    Horn B, Heideman R, Geyer R, Pollack I, Packer R, Goldwein J, Tomita T, Schomberg P, Ater J, Luchtman-Jones L, Rivlin K, Lamborn K, Prados M, Bollen A, Berger M, Dahl G, McNeil E, Patterson K, Shaw D, Kubalik M, Russo C
    Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology. 1999 ; 21 (3) : 203-211.
    PMID 10363853
     
    Cytogenetic study of 33 ependymomas.
    Vagner-Capodano AM, Zattara-Cannoni H, Gambarelli D, Figarella-Branger D, Lena G, Dufour H, Grisoli F, Choux M
    Cancer genetics and cytogenetics. 1999 ; 115 (2) : 96-99.
    PMID 10598140
     
    Fluorescence in situ hybridization determination of 22q12-q13 deletion in two intracerebral ependymomas.
    Rousseau-Merck M, Versteege I, Zattara-Cannoni H, Figarella D, Lena G, Aurias A, Vagner-Capodano AM
    Cancer genetics and cytogenetics. 2000 ; 121 (2) : 223-227.
    PMID 11063814
     
    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

    Contributor(s)

    Written04-2001Anne Marie Capodano

    Citation

    This paper should be referenced as such :
    Capodano, AM
    Nervous system: Ependymomas
    Atlas Genet Cytogenet Oncol Haematol. 2001;5(3):207-209.
    Free online version   Free pdf version   [Bibliographic record ]
    URL : http://AtlasGeneticsOncology.org/Tumors/EpendymomID5016.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Tue Aug 26 15:53:16 CEST 2014


    Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.