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- Title
Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications.
- Authors
Karafin, M; Jallo, G I; Ayars, M; Eberhart, C G; Rodriguez, F J
- Abstract
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 BRAFV600E 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.
- Publication
Clinical neuropathology, 2011, Vol 30, Issue 6, p297
- ISSN
0722-5091
- Publication type
Journal Article
- DOI
10.5414/np300374