Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.
The Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder caused by inactivating germline mutations in the serine-threonine kinase gene LKB1, is characterized by mucocutaneous pigmentation, multiple gastrointestinal hamartomatous polyps, and by an increased risk for developing tumors involving several different organs. To date, no brain tumors have been described in PJS patients. In this report, we describe a case of ganglioglioma in a 22-year-old PJS patient. Single-strand conformation polymorphism-Heteroduplex analysis evidenced an abnormal pattern in exon 6 of the LKB1 gene. Sequencing revealed a 821delTinsAC mutation creating a termination codon 29 nucleotides downstream (p.Asn274fsX11). RNA studies showed an out-of-frame LKB1 isoform derived from the wild type allele and generated by exon 4 skipping. Since the LKB1 gene is expressed in the fetal and adult brain, our data would suggest its likely involvement in the pathogenesis of a subset of gangliogliomas.
Resta
Nicoletta
N
Medical Genetics Unit, Department of Biomedicine of Evolutive Age, University of Bari, Bari, Italy. resusc@medgene.uniba.it
Lauriola
Libero
L
Puca
Alfredo
A
Susca
Francesco C
FC
Albanese
Alessio
A
Sabatino
Giovanni
G
Di Giacomo
Marilena C
MC
Gessi
Marco
M
Guanti
Ginevra
G
D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D001483:Base Sequence; D001932:Brain Neoplasms / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D004252:DNA Mutational Analysis; D005260:Female; D018303:Ganglioglioma / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D015870:Gene Expression; D020869:Gene Expression Profiling; D006801:Humans; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000150:complications* / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases