Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma

doi:10.1186/1476-4598-6-47

Molecular Cancer

Volume 6

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Rousseau E
Palm T
Scaravilli F
Ruchoux MM
Figarella-Branger D
Salmon I
Ellison D
Lacroix C
Chapon F
Mikol J
Vikkula M
Godfraind C

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Rousseau E
Palm T
Scaravilli F
Ruchoux MM
Figarella-Branger D
Salmon I
Ellison D
Lacroix C
Chapon F
Mikol J
Vikkula M
Godfraind C
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Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma

Emmanuel Rousseau¹^,2 , Thomas Palm² , Francesco Scaravilli³ , Marie-Magdeleine Ruchoux⁴ , Dominique Figarella-Branger⁵ , Isabelle Salmon⁶ , David Ellison⁷ , Catherine Lacroix⁸ , Françoise Chapon⁹ , Jacqueline Mikol¹⁰ , Miikka Vikkula²^* and Catherine Godfraind¹^*

¹Laboratory of Pathology, Université catholique de Louvain, Bruxelles, Belgium

²Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Bruxelles, Belgium

³Institute of Neurology, Queen Square, London, UK

⁴INSERM U689 Paris and CEA, Fontenay-aux-Roses, France

⁵Department of Pathology and Neuropathology, La Timone's Hospital, AP-HM, and EA3281 Université de la Mediterrannée, Marseille, France

⁶Laboratory of Pathology, Erasme Hospital, Université Libre de Bruxelles, Bruxelles, Belgium

⁷Northern Institute for Cancer Research, University of Newcastle, Newcastle-upon-Tyne, UK

⁸Laboratory of Pathology, Hôpital Kremelin-Bicêtre, Paris, France

⁹Laboratory of Pathology, CHU-Caen, France

¹⁰Department of Pathology, Hopital Lariboisière, Paris, France

author email corresponding author email* Contributed equally

Molecular Cancer 2007, 6:47doi:10.1186/1476-4598-6-47


Published:	12 July 2007

Abstract

Ependymal tumors constitute a clinicopathologically heterogeneous group of brain tumors. They vary in regard to their age at first symptom, localization, morphology and prognosis. Genetic data also suggests heterogeneity. We define a newly recognized subset of ependymal tumors, the trisomy 19 ependymoma. Histologically, they are compact lesions characterized by a rich branched capillary network amongst which tumoral cells are regularly distributed. When containing clear cells they are called clear cell ependymoma. Most trisomy 19 ependymomas are supratentorial WHO grade III tumors of the young. Genetically, they are associated with trisomy 19, and frequently with a deletion of 13q21.31-31.2, three copies of 11q13.3-13.4, and/or deletions on chromosome 9. These altered chromosomal regions are indicative of genes and pathways involved in trisomy 19 ependymoma tumorigenesis. Recognition of this genetico-histological entity allows better understanding and dissection of ependymal tumors.