title: Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications.
abstract: 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.
authors.affiliation: Medical Genetics Unit, Department of Biomedicine of Evolutive Age, University of Bari, Bari, Italy. resusc@medgene.uniba.it
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Resta
authors.forename: Libero
authors.initials: L
authors.lastname: Lauriola
authors.forename: Alfredo
authors.initials: A
authors.lastname: Puca
authors.forename: Francesco C
authors.initials: FC
authors.lastname: Susca
authors.forename: Alessio
authors.initials: A
authors.lastname: Albanese
authors.forename: Giovanni
authors.initials: G
authors.lastname: Sabatino
authors.forename: Marilena C
authors.initials: MC
authors.lastname: Di Giacomo
authors.forename: Marco
authors.initials: M
authors.lastname: Gessi
authors.forename: Ginevra
authors.initials: G
authors.lastname: Guanti
mesh_terms: 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
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases