Rosette forming glioneuronal tumor in association with Noonan syndrome: pathobiological implications

Clin Neuropathol. 2011 Nov-Dec;30(6):297-300. doi: 10.5414/np300374.

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 types

  • Review

MeSH terms

  • Brain Neoplasms*
  • Humans
  • Mutation
  • Noonan Syndrome*