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

Helena Carén ; Frida Abel (Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik ; Institutionen för matematiska vetenskaper, matematisk statistik) ; Per Kogner ; Tommy Martinsson
Biochemical Journal (0264-6021). Vol. 416 (2008), 2, p. 153-159.
[Artikel, refereegranskad vetenskaplig]

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.

Nyckelord: ALK, oncogene, neuroblastoma, gene amplification, mutation



Denna post skapades 2009-01-13. Senast ändrad 2012-06-04.
CPL Pubid: 85983

 

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Institutioner (Chalmers)

Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik (GU)
Institutionen för matematiska vetenskaper, matematisk statistik (2005-2016)

Ämnesområden

Genetik
Medicinsk bioteknologi (med inriktning mot cellbiologi)

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