SENSITIVE AND RELIABLE DETECTION OF GENOMIC IMBALANCES IN HUMAN NEUROBLASTOMAS USING COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS

Deletions of the short arm of chromosome 1, extra copies of chromosome 17q and MYCN amplification are the most frequently encountered geneti c changes in neuroblastomas. Standard techniques for detection of one or more of these genetic changes are karyotyping, FISH analysis and LO H analysis by Southern blot or PCR. Each of these techniques has its o wn particular limitations. More recently, comparative genomic hybridis ation (CGH) was introduced for detection of genomic imbalances includi ng deletions, duplications and gene amplification. We evaluated the se nsitivity and reliability of CGH for detection of the most frequently encountered genetic changes in neuroblastoma. For this purpose a panel of well-characterised neuroblastoma cell lines as well as a series of 11 primary neuroblastomas was analysed. Our results show that CGH is a valuable tool for the genetic characterisation of neuroblastomas, bo th for the detection of frequently occurring genomic imbalances and fo r the identification of previously unnoticed genetic changes. (C) 1997 Elsevier Science Ltd.