Identification of ALK as a major familial neuroblastoma predisposition gene
Open accessAbstract
Neuroblastoma is a childhood cancer that can be inherited, but the genetic aetiology is largely unknown. Here we show that germline mutations in the anaplastic lymphoma kinase (ALK) gene explain most hereditary neuroblastomas, and that activating mutations can also be somatically acquired. We first identified a significant linkage signal at chromosome bands 2p23-24 using a whole-genome scan in neuroblastoma pedigrees. Resequencing of regional candidate genes identified three separate germline missense mutations in the tyrosine kinase domain of ALK that segregated with the disease in eight separate families. Resequencing in 194 high-risk neuroblastoma samples showed somatically acquired mutations in the tyrosine kinase domain in 12.4% of samples. Nine of the ten mutations map to critical regions of the kinase domain and were predicted, with high probability, to be oncogenic drivers. Mutations resulted in constitutive phosphorylation, and targeted knockdown of ALK messenger RNA resulted in profound inhibition of growth in all cell lines harbouring mutant or amplified ALK, as well as in two out of six wild-type cell lines for ALK. Our results demonstrate that heritable mutations of ALK are the main cause of familial neuroblastoma, and that germline or acquired activation of this cell-surface kinase is a tractable therapeutic target for this lethal paediatric malignancy.
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- Authors
- Mossé, Y. P., Laudenslager, M., Longo, L., Cole, K. A., Wood, A., Attiyeh, E. F., Laquaglia, M. J., Sennett, R., Lynch, J. E., Perri, P., Laureys, G., Speleman, F., Kim, C., Hou, C., Hakonarson, H., Torkamani, A., Schork, N. J., Brodeur, G. M., Tonini, G. P., Rappaport, E., Devoto, M., & Maris, J. M.
- Affiliations
- Children's Hospital of Philadelphia (US)
- Ghent University Hospital (BE)
- Scripps Research Institute (US)
- Corresponding author
- Maris, John M.
- ORCID
- Venue
- Nature
- Published
- 2008-08-24
- Volume
- 455
- Issue
- 7215
- Pages
- 930-935
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2672043
- OpenAlex
- W2010978319
- Cited by
- 1,407
- References
- 51
- Citations by year
- 2026: 36 · 2025: 42 · 2024: 76 · 2023: 72 · 2022: 81 · 2021: 95 · 2020: 77 · 2019: 79 · 2018: 88 · 2017: 80 · 2016: 83 · 2015: 77 · 2014: 83 · 2013: 82 · 2012: 112
- FWCI
- 51.23
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- IRIS Research product catalog (Sapienza University of Rome) (submittedVersion)
- Funders
- U.S. Public Health Service (K08-111733)
- National Cancer Institute (R01-CA78454, K08CA111733, R01CA087847, R01CA124709, R01CA078545, U10CA098543)
- National Center for Research Resources (UL1RR025774)
- Topics
- Health Sciences › Medicine › Neurology › Neuroblastoma Research and Treatments
- Health Sciences › Medicine › Neurology › Neurofibromatosis and Schwannoma Cases
- Health Sciences › Medicine › Surgery › Congenital gastrointestinal and neural anomalies
- Keywords
- neuroblastoma, anaplastic lymphoma kinase, familial neuroblastoma, germline mutations, somatic mutations, tyrosine kinase domain, hereditary cancer predisposition, oncogenic drivers, constitutive kinase activation, ALK inhibitors
- MeSH terms
- Anaplastic Lymphoma Kinase, Base Sequence, Child, Chromosomes, Human, Pair 2, Female, Humans, Male, Models, Molecular, Molecular Sequence Data, Mutation, Neuroblastoma, Pedigree, Phosphorylation, Protein-Tyrosine Kinases, Gene Expression Regulation, Neoplastic, Protein Structure, Tertiary, Germ-Line Mutation, Gene Dosage, Genetic Predisposition to Disease, Receptor Protein-Tyrosine Kinases, Cell Line, Tumor
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