Abstract
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 language | English |
|---|---|
| Pages (from-to) | 281-289 |
| Number of pages | 9 |
| Journal | Brain Pathology |
| Volume | 14 |
| Issue number | 3 |
| Publication status | Published - Jul 2004 |
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ASJC Scopus subject areas
- Neuroscience(all)
- Pathology and Forensic Medicine
Cite this
Genetic and expression profiles of cerebellar liponeurocytomas. / Hostmann, Sonja; Perry, Arie; Reifenberger, Guido; Giangaspero, Felice; Huang, Herve; Hara, Akira; Masuoka, Jun; Rainov, Nikolai G.; Bergmann, Markus; Heppner, Frank L.; Brandner, Sebastian; Chimelli, Leila; Montagna, Nádia; Jackson, Thad; Davis, Daron G.; Markesbery, William R.; Ellison, David W.; Weller, Roy O.; Taddei, Gian L.; Conti, Renato; Del Bigio, Marc R.; González-Cámpora, Ricardo; Radhakrishnan, V. V.; Söylemezoglu, Figen; Uro-Coste, Emmanuelle; Qian, Jiang; Kleihues, Paul; Ohgaki, Hiroko.
In: Brain Pathology, Vol. 14, No. 3, 07.2004, p. 281-289.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic and expression profiles of cerebellar liponeurocytomas
AU - Hostmann, Sonja
AU - Perry, Arie
AU - Reifenberger, Guido
AU - Giangaspero, Felice
AU - Huang, Herve
AU - Hara, Akira
AU - Masuoka, Jun
AU - Rainov, Nikolai G.
AU - Bergmann, Markus
AU - Heppner, Frank L.
AU - Brandner, Sebastian
AU - Chimelli, Leila
AU - Montagna, Nádia
AU - Jackson, Thad
AU - Davis, Daron G.
AU - Markesbery, William R.
AU - Ellison, David W.
AU - Weller, Roy O.
AU - Taddei, Gian L.
AU - Conti, Renato
AU - Del Bigio, Marc R.
AU - González-Cámpora, Ricardo
AU - Radhakrishnan, V. V.
AU - Söylemezoglu, Figen
AU - Uro-Coste, Emmanuelle
AU - Qian, Jiang
AU - Kleihues, Paul
AU - Ohgaki, Hiroko
PY - 2004/7
Y1 - 2004/7
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=4143083585&partnerID=8YFLogxK
M3 - Article
C2 - 15446583
AN - SCOPUS:4143083585
VL - 14
SP - 281
EP - 289
JO - Brain Pathology
JF - Brain Pathology
SN - 1015-6305
IS - 3
ER -