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 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.
Highlights
ReceivedJanuary 12, 2011; accepted in revised formCorrespondence toF.J
Noonan syndrome is a heterogeneous autosomal disorder that was first described by Jacqueline Noonan [1]
This disorder is characterized by a combination of unique facial features, short stature, cardiac abnormalities, chest wall abnormalities and developmental delay [2]
Summary
Noonan syndrome – glioneuronal tumor – rosette forming glioneuronal tumor – RAS – MAPK/ERK. 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
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