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


CONCLUSIONS
This report details the molecular genetic analysis of a ganglioglioma that allowed the identification of a new mutation.
De Tommasi
Antonio
A
Department of Neurosurgery, University of Bari, Bari, Italy. adetommasi@neurosurgery.uniba.it
Luzzi
Sabino
S
D'Urso
Pietro I
PI
De Tommasi
Claudio
C
Resta
Nicoletta
N
Ciappetta
Pasqualino
P
D000091162:AMP-Activated Protein Kinase Kinases; D001932:Brain Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D002114:Calcinosis / Q000000981:diagnostic imaging; D005260:Female; D016368:Frameshift Mutation; D005625:Frontal Lobe / Q000473:pathology* / Q000601:surgery; D018303:Ganglioglioma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000150:complications*; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases