Focal genomic amplification at 19q13.42 comprises a powerful diagnostic marker for embryonal tumors with ependymoblastic rosettes
| Autor: | Stefan M. Pflster, Thomas Hielscher, Peter Lichter, Felice Giangaspero, Anna Maria Buccoliero, Marco Gessi, Andreas von Deimling, Olaf Witt, Marina Ryzhova, Andrey Korshunov, Marc Remke, Bernd W. Scheithauer, Jose M. Bonnin, Marc K. Rosenblum, Iacopo Sardi, Torsten Pietsch, Sverre Mørk, Otmar D. Wiestler, Vivienne Tobias, Marina Paola Gardiman, Andreas E. Kulozik, Hendrik Witt |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Pathology medicine.medical_specialty Locus (genetics) In situ hybridization Biology Pathology and Forensic Medicine Cellular and Molecular Neuroscience 19q 13 etantr who classification of cns tumors embryonal brain tumor ependymoblastoma 19q13 molecular diagnosis Chromosome 19 medicine Neuropil Humans Neuroectodermal Tumors Primitive In Situ Hybridization Fluorescence Survival analysis Polysomy medicine.diagnostic_test Infant Neoplasms Germ Cell and Embryonal medicine.disease Survival Analysis medicine.anatomical_structure Child Preschool Female Neurology (clinical) Chromosomes Human Pair 19 Fluorescence in situ hybridization Ependymoblastoma |
| Zdroj: | Acta Neuropathologica. 120:253-260 |
| ISSN: | 1432-0533 0001-6322 |
| DOI: | 10.1007/s00401-010-0688-8 |
| Popis: | Ependymoblastoma (EBL) and embryonal tumor with abundant neuropil and true rosettes (ETANTR) are very aggressive embryonal neoplasms characterized by the presence of ependymoblastic multilayered rosettes typically occurring in children below 6 years of age. It has not been established whether these two tumors really comprise distinct entities. Earlier, using array-CGH, we identified a unique focal amplification at 19q13.42 in a case of ETANTR. In the present study, we investigated this locus by fluorescence in situ hybridization in 41 tumors, which had morphologically been diagnosed as EBL or ETANTR. Strikingly, FISH analysis revealed 19q13.42 amplifications in 37/40 samples (93%). Among tumors harboring the amplification, 19 samples were identified as ETANTR and 18 as EBL. The three remaining tumors showed a polysomy of chromosome 19. Analysis of recurrent/metastatic tumors (n = 7) showed that the proportion of nuclei carrying the amplification was increased (up to 80-100% of nuclei) in comparison to the corresponding primary tumors. In conclusion, we have identified a hallmark cytogenetic aberration occurring in virtually all embryonal brain tumors with ependymoblastic rosettes suggesting that ETANTR and EBL comprise a single biological entity. FISH analysis of the 19q13.42 locus is a very promising diagnostic tool to identify a subset of primitive neuroectodermal tumors with distinct morphology, biology, and clinical behavior. |
| Databáze: | OpenAIRE |
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