Genetic and expression profiles of cerebellar liponeurocytomas

Sonja Hostmann, Arie Perry, Guido Reifenberger, Felice Giangaspero, Herve Huang, Akira Hara, Jun Masuoka, Nikolai G. Rainov, Markus Bergmann, Frank L. Heppner, Sebastian Brandner, Leila Chimelli, Nádia Montagna, Thad Jackson, Daron G. Davis, William R. Markesbery, David W. Ellison, Roy O. Weller, Gian L. Taddei, Renato ContiMarc R. Del Bigio, Ricardo González-Cámpora, V. V. Radhakrishnan, Figen Söylemezoglu, Emmanuelle Uro-Coste, Jiang Qian, Paul Kleihues, Hiroko Ohgaki

Research output: Contribution to journalArticlepeer-review


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 β-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.

Original languageEnglish
Pages (from-to)281-289
Number of pages9
JournalBrain Pathology
Issue number3
Publication statusPublished - Jul 2004

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pathology and Forensic Medicine


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