Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma.
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.
Rousseau
Emmanuel
E
Laboratory of Pathology, Université catholique de Louvain, Bruxelles, Belgium. e.rousseau@chmouscron.be
Palm
Thomas
T
Scaravilli
Francesco
F
Ruchoux
Marie-Magdeleine
MM
Figarella-Branger
Dominique
D
Salmon
Isabelle
I
Ellison
David
D
Lacroix
Catherine
C
Chapon
Françoise
F
Mikol
Jacqueline
J
Vikkula
Miikka
M
Godfraind
Catherine
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004806:Ependymoma / Q000235:genetics / Q000473:pathology*; D005260:Female; D015894:Genome, Human; D006801:Humans; D007223:Infant; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D009693:Nucleic Acid Hybridization / Q000379:methods; D020641:Polymorphism, Single Nucleotide; D046888:Tissue Array Analysis / Q000379:methods; D016707:Tissue Fixation / Q000379:methods; D014314:Trisomy