Identification of ALK as a major familial neuroblastoma predisposition gene

Nature

Volumn 455, Issue 7215, 2008, Pages 930-935

  Mossé, Yaël P ^a   Laudenslager, Marci ^a   Longo, Luca ^b   Cole, Kristina A ^a   Wood, Andrew ^a   Attiyeh, Edward F ^a   Laquaglia, Michael J ^a   Sennett, Rachel ^a   Lynch, Jill E ^a   Perri, Patrizia ^b,c   Laureys, Geneviève ^d   Speleman, Frank ^d   Kim, Cecilia ^e   Hou, Cuiping ^a,e   Hakonarson, Hakon ^a,e   Torkamani, Ali ^f   Schork, Nicholas J ^f   Brodeur, Garrett M ^a   Tonini, Gian P ^b   Rappaport, Eric ^a   Devoto, Marcella ^a,g   Maris, John M ^a,h   more..

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF GENOA   (Italy)

^c Advanced Biotechnology Centre   (Italy)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f SCRIPPS RESEARCH INSTITUTE   (United States)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANAPLASTIC LYMPHOMA KINASE; MESSENGER RNA; PROTEIN TYROSINE KINASE;

CANCER; CHILD HEALTH; CHROMOSOME; GENE EXPRESSION; HERITABILITY; IDENTIFICATION METHOD; MUTATION; RNA;

ARTICLE; CHROMOSOME BAND; CONTROLLED STUDY; GENE AMPLIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENOMICS; HUMAN; HUMAN CELL; NEUROBLASTOMA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN PHOSPHORYLATION; SOMATIC MUTATION; WILD TYPE;

BASE SEQUENCE; CELL LINE, TUMOR; CHILD; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; GENE DOSAGE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NEUROBLASTOMA; PEDIGREE; PHOSPHORYLATION; PROTEIN STRUCTURE, TERTIARY; PROTEIN-TYROSINE KINASES;

EID: 54049094708     PISSN: 00280836     EISSN: 14764679     Source Type: Journal    
DOI: 10.1038/nature07261     Document Type: Article

References (50)

1. Maris, J. M., Hogarty, M. D., Bagatell, R. & Cohn, S. L. Neuroblastoma. Lancet 369, 2106-2120 (2007).
2. Matthay, K. K. et al. Treatment of high-risk neuroblastoma with intensive chemotherapy, radiotherapy, autologous bone marrow transplantation, and 13-cis-retinoic acid. Children's Cancer Group. N. Engl. J. Med. 341, 1165-1173 (1999).
3. Schwab, M. et al. Chromosome localization in normal human cells and neuroblastomas of a gene related to c-myc. Nature 308, 288-291 (1984).
4. Attiyeh, E. F. et al. Chromosome 1p and 11q deletions and outcome in neuroblastoma. N. Engl. J. Med. 353, 2243-2253 (2005).
5. Knudson, A. G. J. & Strong, L. C. Mutation and cancer: Neuroblastoma and pheochromocytoma. Am. J. Hum. Genet. 24, 514-522 (1972).
6. Kushner, B. H., Gilbert, F. & Helson, L. Familial neuroblastoma. Case reports, literature review, and etiologic considerations. Cancer 57, 1887-1893 (1986).
7. Maris, J. M. et al. Molecular genetic analysis of familial neuroblastoma. Eur. J. Cancer 33, 1923-1928 (1997).
8. Friedman, D. L. et al. Increased risk of cancer among siblings of long-term childhood cancer survivors: a report from the childhood cancer survivor study. Cancer Epidemiol. Biomarkers Prev. 14, 1922-1927 (2005).
9. Maris, J. M. & Brodeur, G. M. in Neuroblastoma (eds Cheung, N.-K. V.& Cohn, S. L.) 21-26 (Springer, 2005).
10. Longo, L. et al. Genetic predisposition to familial neuroblastoma: identification of two novel genomic regions at 2p and 12p. Hum. Hered. 63, 205-211 (2007).
11. Maris, J. M. et al. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res. 62, 6651-6658 (2002).
12. Perri, P. et al. Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene 21, 8356-8360 (2002).
13. Amiel, J. et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genet. 33, 459-461 (2003).
14. Mosse, Y. P. et al. Germline PHOX2B mutation in hereditary neuroblastoma. Am. J. Hum. Genet. 75, 727-730 (2004).
15. Trochet, D. et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am. J. Hum. Genet. 74, 761-764 (2004).
16. Raabe, E. H. et al. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene 27, 469-476 (2008).
17. van Limpt, V. et al. The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene 23, 9280-9288 (2004).
18. Weiss, W. A., Aldape, K., Mohapatra, G., Feuerstein, B. G. & Bishop, J. M. Targeted expression of MYCN causes neuroblastoma in transgenic mice. EMBO J. 16, 2985-2995 (1997).
19. Osajima-Hakomori, Y. et al. Biological role of anaplastic lymphoma kinase in neuroblastoma. Am. J. Pathol. 167, 213-222 (2005).
20. George, R. E. et al. Genome-wide analysis of neuroblastomas using high-density single nucleotide polymorphism arrays. PLoS ONE 2, e255 (2007).
21. Morris, S. W. et al. Fusion of a kinase gene, ALK, to a nucleolar protein gene, NPM, in non-Hodgkin's lymphoma. Science 263, 1281-1284 (1994).
22. Griffin, C. A. et al. Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors. Cancer Res. 59, 2776-2780 (1999).
23. Jazii, F. R. et al. Identification of squamous cell carcinoma associated proteins by proteomics and loss of beta tropomyosin expression in esophageal cancer. World J. Gastroenterol. 12, 7104-7112 (2006).
24. Soda, M. et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448, 561-566 (2007).
25. Rikova, K. et al. Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell 131, 1190-1203 (2007).
26. Torkamani, A. & Schork, N. J. Accurate prediction of deleterious protein kinase polymorphisms. Bioinformatics 23, 2918-2925 (2007).
27. Torkamani, A. & Schork, N. J. Prediction of cancer driver mutations in protein kinases. Cancer Res. 68, 1675-1682 (2008).
28. Ikenoue, T. et al. Functional analysis of mutations within the kinase activation segment of B-Raf in human colorectal tumors. Cancer Res. 63, 8132-8137 (2003).
29. Ikenoue, T. et al. Different effects of point mutations within the B-Raf glycine-rich loop in colorectal tumors on mitogen-activated protein/extracellular signal-regulated kinase kinase/extracellular signal-regulated kinase and nuclear factor κB pathway and cellular transformation. Cancer Res. 64, 3428-3435 (2004).
30. Kannan, N. & Neuwald, A. F. Did protein kinase regulatory mechanisms evolve through elaboration of a simple structural component? J. Mol. Biol. 351, 956-972 (2005).
31. Jeffers, M. et al. Activating mutations for the met tyrosine kinase receptor in human cancer. Proc. Natl Acad. Sci. USA 94, 11445-11450 (1997).
32. Balak, M. N. et al. Novel D761Y and common secondary T790M mutations in epidermal growth factor receptor-mutant lung adenocarcinomas with acquired resistance to kinase inhibitors. Clin. Cancer Res. 12, 6494-6501 (2006).
33. Lee, J. W. et al. ERBB2 kinase domain mutation in the lung squamous cell carcinoma. Cancer Lett. 237, 89-94 (2006).
34. Lee, J. W. et al. Somatic mutations of ERBB2 kinase domain in gastric, colorectal, and breast carcinomas. Clin. Cancer Res. 12, 57-61 (2006).
35. Wang, Q. et al. Integrative genomics identifies distinct molecular classes of neuroblastoma and shows that multiple genes are targeted by regional alterations in DNA copy number. Cancer Res. 66, 6050-6062 (2006).
36. Vogelstein, B. & Kinzler, K. W. Cancer genes and the pathways they control. Nature Med. 10, 789-799 (2004).
37. Maris, J. M. et al. Chromosome 6p22 locus associated with clinically aggressive neuroblastoma. N. Engl. J. Med. 358, 2585-2593 (2008).
38. Iwahara, T. et al. Molecular characterization of ALK, a receptor tyrosine kinase expressed specifically in the nervous system. Oncogene 14, 439-449 (1997).
39. Chiarle, R., Voena, C., Ambrogio, C., Piva, R. & Inghirami, G. The anaplastic lymphoma kinase in the pathogenesis of cancer. Nature Rev. Cancer 8, 11-23 (2008).
40. Lamant, L. et al. Expression of the ALK tyrosine kinase gene in neuroblastoma. Am. J. Pathol. 156, 1711-1721 (2000).
41. Motegi, A., Fujimoto, J., Kotani, M., Sakuraba, H. & Yamamoto, T. ALK receptor tyrosine kinase promotes cell growth and neurite outgrowth. J. Cell Sci. 117, 3319-3329 (2004).
42. Miyake, I. et al. Activation of anaplastic lymphoma kinase is responsible for hyperphosphorylation of ShcC in neuroblastoma cell lines. Oncogene 21, 5823-5834 (2002).
43. Dirks, W. G. et al. Expression and functional analysis of the anaplastic lymphoma kinase (ALK) gene in tumor cell lines. Int. J. Cancer 100, 49-56 (2002).
44. McDermott, U. et al. Genomic alterations of anaplastic lymphoma kinase may sensitize tumors to anaplastic lymphoma kinase inhibitors. Cancer Res. 68, 3389-3395 (2008).
45. Wigginton, J. E. & Abecasis, G. R. PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics 21, 3445-3447 (2005).
46. Abecasis, G. R., Cherny, S. S., Cookson, W. O. & Cardon, L. R. Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nature Genet. 30, 97-101 (2002).
47. Li, M., Boehnke, M. & Abecasis, G. R. Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. Am. J. Hum. Genet. 76, 934-949 (2005).
48. Yu, N. et al. Real-time monitoring of morphological changes in living cells by electronic cell sensor arrays: an approach to study G protein-coupled receptors. Anal. Chem. 78, 35-43 (2006).
49. Cole, K. A. et al. A functional screen identifies miR-34a as a candidate neuroblastoma tumor suppressor gene. Mol. Cancer Res. 6, 735-742 (2008).
50. T method. Methods 25, 402-408 (2001).