title: Assessment of MYCN amplification status in Tunisian neuroblastoma: CISH and MLPA combining approach.
abstract: BACKGROUND
  Neuroblastoma (NB) shows a complex combination of genetic aberrations. Some of them represent poor genetic prognosis factors that require specific and intensive chemotherapy. MYCN amplification consists of the major bad outcome prognostic factor, it is indeed frequently observed in aggressive neuroblastomas. To date different methods are used for MYCN status detection.
  
  
  OBJECTIVE
  The primary aim of our study was to provide a critical assessment of MYCN status using 2 molecular techniques CISH and MLPA. We also focused on the correlation between neuroblastoma genetic markers and patient's clinical course among 15 Tunisian patients.
  
  
  METHODS
  we developed a descriptive study that includes 15 pediatric Tunisian patients referred to our laboratory from 2004 to 2011. We reported the analysis of fresh and FFPE NB tumors tissues.
  
  
  RESULTS
  No significant correlation was found between COG grade and patients overall survival. Assessment of NMYC gene copy number by kappa statistic test revealed high concordance between CISH and MLPA tests (kappa coefficient = 0.02).
  
  
  CONCLUSIONS
  Despite misdiagnosing of MYCN status fewer than 5 copies, MLPA remains an effective molecular technique that enables a large panel of genomic aberrations screening. Thus combining CISH and MLPA is an effective molecular approach adopted in our laboratory. Our results allow pediatric oncologists to set up the first Neuroblastoma therapeutic strategy based on molecular markers in Tunisia.
authors.forename: Dorra
authors.initials: D
authors.lastname: H'Mida Ben Brahim
authors.forename: Saoussen
authors.initials: S
authors.lastname: Trabelsi
authors.forename: Imen
authors.initials: I
authors.lastname: Chabchoub
authors.forename: Inesse
authors.initials: I
authors.lastname: Gargouri
authors.forename: Imed
authors.initials: I
authors.lastname: Harrabi
authors.forename: Adnene
authors.initials: A
authors.lastname: Moussa
authors.forename: Maroua
authors.initials: M
authors.lastname: Chourabi
authors.forename: Marwa
authors.initials: M
authors.lastname: Haddaji
authors.forename: Sihem
authors.initials: S
authors.lastname: Sassi
authors.forename: Soumaya
authors.initials: S
authors.lastname: Mougou
authors.forename: Moez
authors.initials: M
authors.lastname: Gribaa
authors.forename: Slim
authors.initials: S
authors.lastname: Ben Ahmed
authors.forename: Abdelfattah
authors.initials: A
authors.lastname: Zakhama
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Nouri
authors.forename: Ali
authors.initials: A
authors.lastname: Saad
mesh_terms: D001932:Brain Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005784:Gene Amplification; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D007231:Infant, Newborn; D060885:Multiplex Polymerase Chain Reaction; D000071447:N-Myc Proto-Oncogene Protein; D009447:Neuroblastoma / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D014416:Tunisia
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins