PMID- 18574593 OWN - NLM STAT- MEDLINE DCOM- 20080919 LR - 20211020 IS - 0945-6317 (Print) IS - 0945-6317 (Linking) VI - 453 IP - 1 DP - 2008 Jul TI - Comparison of different techniques for the detection of genetic risk-identifying chromosomal gains and losses in neuroblastoma. PG - 47-55 LID - 10.1007/s00428-008-0633-6 [doi] AB - Neuroblastoma (NB) is a pediatric neoplasia that shows complex combinations of acquired genetic aberrations. The specific genes and the molecular mechanisms responsible for development and progression of NB remain poorly understood. Our main objective is to compare the results obtained with different techniques for the detection of genomic data in 20 patients with NB using the information obtained to select the appropriate technique in routine analysis for the therapeutic stratification. The genetic methods used in this study are multiprobe fluorescence in situ hybridization (FISH) assay, metaphasic comparative genomic hybridization (mCGH), array comparative genomic hybridization (aCGH), and the multiplex ligation-dependent probe amplification (MLPA). Genomic copy number abnormalities were used to group the cases in four categories: MYCN amplification cases; 11q deletion tumors; cases with partial chromosome gains or losses and samples with entire chromosome alterations. The data obtained from the multigenomic techniques showed a high degree of concordance and our findings support the hypothesis that NB consists of biologically distinct subgroups that differ by genetic characteristics of prognostic relevance. FISH will be essential for the mandatory study of MYCN status. The use of MLPA as routine technique is an advantage procedure for detecting the implication of the common genetic alterations in NB. FAU - Villamon, Eva AU - Villamon E AD - Department of Pathology, Medical School, University of Valencia, Avda/Blasco Ibanez, 17, Valencia, Spain. FAU - Piqueras, Marta AU - Piqueras M FAU - Mackintosh, Carlos AU - Mackintosh C FAU - Alonso, Javier AU - Alonso J FAU - de Alava, Enrique AU - de Alava E FAU - Navarro, Samuel AU - Navarro S FAU - Noguera, Rosa AU - Noguera R LA - eng PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20080624 PL - Germany TA - Virchows Arch JT - Virchows Archiv : an international journal of pathology JID - 9423843 RN - 0 (DNA, Neoplasm) RN - 0 (MYCN protein, human) RN - 0 (N-Myc Proto-Oncogene Protein) RN - 0 (Nuclear Proteins) RN - 0 (Oncogene Proteins) SB - IM MH - Biopsy MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - Chromosome Deletion MH - DNA, Neoplasm/genetics MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Infant MH - Infant, Newborn MH - N-Myc Proto-Oncogene Protein MH - Neuroblastoma/diagnosis/*genetics/pathology MH - Nuclear Proteins/genetics MH - Nucleic Acid Amplification Techniques/*methods MH - Nucleic Acid Hybridization/*methods MH - Oncogene Proteins/genetics MH - Prognosis EDAT- 2008/06/25 09:00 MHDA- 2008/09/20 09:00 CRDT- 2008/06/25 09:00 PHST- 2008/02/04 00:00 [received] PHST- 2008/05/13 00:00 [accepted] PHST- 2008/05/06 00:00 [revised] PHST- 2008/06/25 09:00 [pubmed] PHST- 2008/09/20 09:00 [medline] PHST- 2008/06/25 09:00 [entrez] AID - 10.1007/s00428-008-0633-6 [doi] PST - ppublish SO - Virchows Arch. 2008 Jul;453(1):47-55. doi: 10.1007/s00428-008-0633-6. Epub 2008 Jun 24.