Cargando…
Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications
Noonan syndrome, a distinctive syndrome characterized by dysmorphism, cardiac abnormalities and developmental delay, has been associated with a number of malignancies, however, only a few cases of primary glial or glioneuronal neoplasms have been reported. We report here the case of an 18-year-old w...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dustri-Verlag Dr. Karl Feistle
2011
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657471/ https://www.ncbi.nlm.nih.gov/pubmed/22011734 http://dx.doi.org/10.5414/NP300374 |
_version_ | 1782270146118680576 |
---|---|
author | Karafin, M. Jallo, G.I. Ayars, M. Eberhart, C.G. Rodriguez, F.J. |
author_facet | Karafin, M. Jallo, G.I. Ayars, M. Eberhart, C.G. Rodriguez, F.J. |
author_sort | Karafin, M. |
collection | PubMed |
description | Noonan syndrome, a distinctive syndrome characterized by dysmorphism, cardiac abnormalities and developmental delay, has been associated with a number of malignancies, however, only a few cases of primary glial or glioneuronal neoplasms have been reported. We report here the case of an 18-year-old with Noonan syndrome who developed a rosette forming glioneuronal tumor of the posterior fossa. The tumor demonstrated strong pERK immunoreactivity, suggesting MAPK/ERK pathway activation. Molecular testing did not reveal BRAF rearrangements (fusion transcripts) by PCR or a BRAF (V600E) mutation by sequencing. We review the literature regarding the molecular pathogenesis of Noonan syndrome and primary brain tumors, and consider the intriguing link between their common molecular pathways. |
format | Online Article Text |
id | pubmed-3657471 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Dustri-Verlag Dr. Karl Feistle |
record_format | MEDLINE/PubMed |
spelling | pubmed-36574712013-05-19 Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications Karafin, M. Jallo, G.I. Ayars, M. Eberhart, C.G. Rodriguez, F.J. Clin Neuropathol Case Report Noonan syndrome, a distinctive syndrome characterized by dysmorphism, cardiac abnormalities and developmental delay, has been associated with a number of malignancies, however, only a few cases of primary glial or glioneuronal neoplasms have been reported. We report here the case of an 18-year-old with Noonan syndrome who developed a rosette forming glioneuronal tumor of the posterior fossa. The tumor demonstrated strong pERK immunoreactivity, suggesting MAPK/ERK pathway activation. Molecular testing did not reveal BRAF rearrangements (fusion transcripts) by PCR or a BRAF (V600E) mutation by sequencing. We review the literature regarding the molecular pathogenesis of Noonan syndrome and primary brain tumors, and consider the intriguing link between their common molecular pathways. Dustri-Verlag Dr. Karl Feistle 2011 2011-10-18 /pmc/articles/PMC3657471/ /pubmed/22011734 http://dx.doi.org/10.5414/NP300374 Text en © Dustri-Verlag Dr. K. Feistle http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Karafin, M. Jallo, G.I. Ayars, M. Eberhart, C.G. Rodriguez, F.J. Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications |
title | Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications |
title_full | Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications |
title_fullStr | Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications |
title_full_unstemmed | Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications |
title_short | Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications |
title_sort | rosette forming glioneuronal tumor in association with noonan syndrome: pathobiological implications |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657471/ https://www.ncbi.nlm.nih.gov/pubmed/22011734 http://dx.doi.org/10.5414/NP300374 |
work_keys_str_mv | AT karafinm rosetteformingglioneuronaltumorinassociationwithnoonansyndromepathobiologicalimplications AT jallogi rosetteformingglioneuronaltumorinassociationwithnoonansyndromepathobiologicalimplications AT ayarsm rosetteformingglioneuronaltumorinassociationwithnoonansyndromepathobiologicalimplications AT eberhartcg rosetteformingglioneuronaltumorinassociationwithnoonansyndromepathobiologicalimplications AT rodriguezfj rosetteformingglioneuronaltumorinassociationwithnoonansyndromepathobiologicalimplications |