title: The Detection of Genetic Parameters for Prognostic Stratification of Neuroblastoma Using Multiplex Ligation-Dependent Probe Amplification Technique.
abstract: BACKGROUND
  Neuroblastoma (NB) is a neoplasm of the sympathetic nervous system and the most frequent extra cranial solid tumor of early childhood. These tumors display a wide range of clinical behavior and are characterized by complex chromosomal changes, some of which are associated with distinct clinical phenotypes. We investigated the contribution of genetic variables to staging and histology by logistic regression analyses.
  
  
  METHODS
  We used multiplex ligation-dependent probe amplification (MLPA) to detect segmental genomic imbalances and gene copy number changes in 202 primary NBs.
  
  
  RESULTS
  Cases with NB were categorized into four distinct groups based on the genomic changes. Group 1 (48 cases, 23.7%) contained tumors with a 1p deletion and/or MYCN gene amplification (MNA). Group 2 included 46 cases (22.8%) with 3p and/or 11q deletions without 1p deletion and MYCN gene amplification. Tumors harboring at least two commonly observed deletions with or without MNA were classified as Group 3 (25 cases, 12.4%). Tumors with chromosomal imbalance other than MYCN gene amplification and 1p, 3p, and 11q deletions were in Group 4 (83 cases, 41.1%). MYCN gene amplification and 17q gain were significant predisposing factors for unfavorable histology. Significant correlations were detected between 1p deletion and MYCN gene amplification; 3p and 11q deletions; and 11q deletion and 17q gain.
  
  
  CONCLUSIONS
  MLPA can be used effectively to simultaneously detect multiple genomic imbalances and these changes can be utilized to classify neuroblastomas by prognostic subtypes. The genetic changes detected in NB in this study and their associations with clinical characteristics are in line with previously published reports.
authors.affiliation: 1 Department of Medical Biology and Genetics, School of Medicine, Dokuz Eylul University , Izmir, Turkey .|2 Acibadem Genetic Diagnosis Center , Istanbul, Turkey .
authors.forename: Sait
authors.initials: S
authors.lastname: Tumer
authors.affiliation: 1 Department of Medical Biology and Genetics, School of Medicine, Dokuz Eylul University , Izmir, Turkey .
authors.forename: Oguz
authors.initials: O
authors.lastname: Altungoz
authors.affiliation: 1 Department of Medical Biology and Genetics, School of Medicine, Dokuz Eylul University , Izmir, Turkey .|3 Department of Medical Genetics, School of Medicine, Suleyman Demirel University , Isparta, Turkey .
authors.forename: Ozkan
authors.initials: O
authors.lastname: Bagci
authors.affiliation: 4 Department of Pediatric Oncology, School of Medicine, Dokuz Eylul University , Izmir, Turkey .
authors.forename: H Nur
authors.initials: HN
authors.lastname: Olgun
mesh_terms: D001483:Base Sequence; D005260:Female; D018628:Gene Dosage; D006801:Humans; D007223:Infant; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D000071447:N-Myc Proto-Oncogene Protein; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: C459801:MYCN protein, human; D000071447:N-Myc Proto-Oncogene Protein; D009687:Nuclear Proteins; D015513:Oncogene Proteins