Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation.

Abstract

OBJECTIVE Ganglioglioma is a primary central nervous system low-grade tumor composed of mixed populations of glial and neuroepithelial elements. METHODS The 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. RESULTS The 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. CONCLUSION This report details the molecular genetic analysis of a ganglioglioma that allowed the identification of a new mutation.

DOI: 10.1227/01.NEU.0000327699.93146.CD

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@article{Tommasi2008MolecularGA, title={Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation.}, author={Antonio de Tommasi and Sabino Luzzi and Pietro Ivo D'urso and Claudio de Tommasi and Nicoletta Resta and Pasqualino Ciappetta}, journal={Neurosurgery}, year={2008}, volume={63 5}, pages={976-80; discussion 980} }