• Antonio De Tommasi, Sabino Luzzi, Pietro I D'Urso, Claudio De Tommasi, Nicoletta Resta, and Pasqualino Ciappetta.
• Department of Neurosurgery, University of Bari, Bari, Italy. adetommasi@neurosurgery.uniba.it
• Neurosurgery. 2008 Nov 1; 63 (5): 976-80; discussion 980.

ObjectiveGanglioglioma is a primary central nervous system low-grade tumor composed of mixed populations of glial and neuroepithelial elements.MethodsThe authors report a case of ganglioglioma in a patient affected by Peutz-Jeghers syndrome, an autosomal dominant disease with varying expressions and incomplete penetrance responsible for an increased risk of gastrointestinal and other malignant tumor forms.ResultsThe polymerase chain reaction products of exon 6 of STK11/LKB1 showed an abnormal pattern in the single-strand conformation polymorphism analysis. Further sequencing analysis of the exon 6 identified a deletion of T and an insertion of AC at nucleotide 821 causing a shift of the reading frame. The same mutation was found in the patient's peripheral blood. The ribonucleic acid analysis on the ganglioglioma cells revealed an out-of-frame STK11 isoform, characterized by an exon 4 skipping, which resulted in nonsense mediated decay sensitive.ConclusionThis report details the molecular genetic analysis of a ganglioglioma that allowed the identification of a new mutation.

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