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High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours.

Journal article
Authors Helena Carén
Frida Abel
Per Kogner
Tommy Martinsson
Published in The Biochemical journal
Volume 416
Issue 2
Pages 153-9
ISSN 1470-8728
Publication year 2008
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Pages 153-9
Language en
Links www.ncbi.nlm.nih.gov/entrez/query.f...
Keywords DNA Primers, DNA, Neoplasm, genetics, Gene Amplification, Humans, Mutation, Neoplasm Staging, Neuroblastoma, genetics, mortality, pathology, Oligonucleotide Array Sequence Analysis, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Protein-Tyrosine Kinases, genetics, Receptor Protein-Tyrosine Kinases, Survival Analysis
Subject categories Clinical Medicine

Abstract

ALK (anaplastic lymphoma kinase) is oncogenic in several tumours and has recently been identified as a predisposition gene for familial NB (neuroblastoma) harbouring mutations in the TKD (tyrosine kinase domain). We have analysed a large set of sporadic human NB primary tumours of all clinical stages for chromosomal re-arrangements using a CGH (comparative genomic hybridization) array (n=108) and mutations of the ALK gene (n=90), and expression of ALK and related genes (n=19). ALK amplification or in-gene re-arrangements were found in 5% of NB tumours and mutations were found in 11%, including two novel not previously published mutations in the TKD, c.3733T>A and c.3735C>A. DNA mutations in the TKD and gene amplifications were only found in advanced large primary tumours or metastatic tumours, and correlated with the expression levels of ALK and downstream genes as well as other unfavourable features, and poor outcome. The results of the present study support that the ALK protein contributes to NB oncogenesis providing a highly interesting putative therapeutic target in a subset of unfavourable NB tumours.

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