Genetic and expression profiles of cerebellar liponeurocytomas
| Autor: | Sonja Horstmann, Gian Luigi Taddei, Marc R. Del Bigio, Daron G. Davis, Leila Chimelli, William R. Markesbery, Arie Perry, Emmanuelle Uro-Coste, Nikolai G. Rainov, Paul Kleihues, Thad Jackson, Jun Masuoka, Hervé Huang, Sebastian Brandner, R. Conti, Roy O. Weller, Nádia Montagna, Akira Hara, Markus Bergmann, Figen Soylemezoglu, Felice Giangaspero, David Ellison, Jiang Qian, V V Radhakrishnan, Guido Reifenberger, Frank L. Heppner, Hiroko Ohgaki, Ricardo González-Cámpora |
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| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Cerebellum Isochromosome In situ hybridization Biology Fourth ventricle Pathology and Forensic Medicine Diagnosis Differential Complementary DNA medicine Humans Missense mutation Neurocytoma Cerebellar Neoplasms neoplasms Gene In Situ Hybridization Fluorescence Polymorphism Single-Stranded Conformational Aged Oligonucleotide Array Sequence Analysis Medulloblastoma General Neuroscience DNA Neoplasm Middle Aged Genes p53 medicine.disease stomatognathic diseases medicine.anatomical_structure nervous system Mutation Female Lipoma Neurology (clinical) Research Article |
| Zdroj: | Scopus-Elsevier Brain Pathol |
| Popis: | Cerebellar liponeurocytoma, a rare, newly identified CNS neoplasm of adults, is characterized by advanced neuronal/neurocytic and focal lipomatous differentiation, low proliferative potential and a favorable clinical prognosis. Despite the different age distribution and benign biological behavior, the cerebellar liponeurocytoma shares several features with the cerebellar medulloblastoma, which may include an origin from the periventricular matrix of the fourth ventricle or the external granular layer of the cerebellum. To establish the genetic profile of cerebellar liponeurocytomas, we have formed an international consortium and collected tumor samples from 20 patients. DNA sequencing revealed TP53 missense mutations in 4 (20%) of 20 cerebellar liponeurocytomas, a frequency higher than in medulloblastomas. There was no case with PTCH, APC, or beta-catenin mutations, each of which may be present in subsets of medulloblastomas. Isochromosome 17q, a genetic hallmark of classic medulloblastomas, was not observed in any of the cases investigated by FISH analysis. cDNA array analyses were carried out on 4 cerebellar liponeurocytomas, 4 central neurocytomas, and 4 classic medulloblastomas. Cluster analysis of the cDNA expression data of 1176 genes grouped cerebellar liponeurocytomas close to central neurocytomas, but distinct from medulloblastomas. These results suggest cerebellar liponeurocytoma as a distinct tumor entity that is genetically different from medulloblastoma. Furthermore, the cDNA expression array data suggest a relationship to central neurocytomas, but the presence of TP53 mutations, which are absent in central neurocytomas, suggests that their genetic pathways are different. |
| Databáze: | OpenAIRE |
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