Acta Neuropathologica

, Volume 112, Issue 1, pp 106–111 | Cite as

Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications

  • Nicoletta Resta
  • Libero Lauriola
  • Alfredo Puca
  • Francesco C. Susca
  • Alessio Albanese
  • Giovanni Sabatino
  • Marilena C. Di Giacomo
  • Marco Gessi
  • Ginevra Guanti
Case Report

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.

Keywords

Ganglioglioma Peutz-Jeghers syndrome LKB1 Splicing Exon skipping 

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Nicoletta Resta
    • 1
  • Libero Lauriola
    • 2
  • Alfredo Puca
    • 3
  • Francesco C. Susca
    • 1
  • Alessio Albanese
    • 3
  • Giovanni Sabatino
    • 3
  • Marilena C. Di Giacomo
    • 1
  • Marco Gessi
    • 2
    • 4
  • Ginevra Guanti
    • 1
  1. 1.Medical Genetics Unit, Department of Biomedicine of Evolutive AgeUniversity of BariBariItaly
  2. 2.Deparment of PathologyCatholic UniversityRomeItaly
  3. 3.Institute of NeurosurgeryCatholic UniversityRomeItaly
  4. 4.Division of NeuropathologyNational Neurological Institute “C Besta”MilanItaly

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