High-Resolution Array CGH Profiling Identifies Na/K Transporting ATPase Interacting 2 (NKAIN2) as a Predisposing Candidate Gene in Neuroblastoma

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Romania, Paolo ^a   Castellano, Aurora ^a   Surace, Cecilia ^a   Citti, Arianna ^a   De Ioris, Maria Antonietta ^a   Sirleto, Pietro ^a   De Mariano, Marilena ^b   Longo, Luca ^b   Boldrini, Renata ^a   Angioni, Adriano ^a   Locatelli, Franco ^a,c   Fruci, Doriana ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DOXYCYCLINE; RETINOIC ACID; MEMBRANE PROTEIN; NKAIN2 PROTEIN, HUMAN;

ADULT; ARTICLE; CARCINOGENESIS; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DOWN REGULATION; ETHNIC GROUP; FEMALE; GENE EXPRESSION REGULATION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC GAIN; GENETIC PREDISPOSITION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; ITALIAN; NEUROBLASTOMA; NKAIN2 GENE; PHOX2B GENE; SIBLING; TUMOR CELL; TUMOR GENE; ADOLESCENT; GENETICS; GERMLINE MUTATION; MALE; PEDIGREE; PROCEDURES; REGULATOR GENE; TUMOR CELL LINE;

ADOLESCENT; CELL LINE, TUMOR; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DOWN-REGULATION; FEMALE; GENES, REGULATOR; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MEMBRANE PROTEINS; NEUROBLASTOMA; PEDIGREE;

EID: 84886378010     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0078481     Document Type: Article

References (36)

1. Maris JM, (2010) Recent advances in neuroblastoma. N Engl J Med 362: 2202-2211.
2. Cheung NK, Dyer MA, (2013) Neuroblastoma: developmental biology, cancer genomics and immunotherapy. Nat Rev Cancer 13: 397-411.
3. Brodeur GM, (2003) Neuroblastoma: biological insights into a clinical enigma. Nat Rev Cancer 3: 203-216.
4. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, et al. (2004) Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74: 761-764.
5. Mosse YP, Laudenslager M, Khazi D, Carlisle AJ, Winter CL, et al. (2004) Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet 75: 727-730.
6. McConville C, Reid S, Baskcomb L, Douglas J, Rahman N, (2006) PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. Am J Med Genet A 140: 1297-1301.
7. Raabe EH, Laudenslager M, Winter C, Wasserman N, Cole K, et al. (2008) Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene 27: 469-476.
8. van Limpt V, Schramm A, van Lakeman A, Sluis P, Chan A, et al. (2004) The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene 23: 9280-9288.
9. Krona C, Caren H, Sjoberg RM, Sandstedt B, Laureys G, et al. (2008) Analysis of neuroblastoma tumour progression; loss of PHOX2B on 4p13 and 17q gain are early events in neuroblastoma tumourigenesis. Int J Oncol 32: 575-583.
10. George RE, Sanda T, Hanna M, Frohling S, Luther W 2nd, et al. (2008) Activating mutations in ALK provide a therapeutic target in neuroblastoma. Nature 455: 975-978.
11. Chen Y, Takita J, Choi YL, Kato M, Ohira M, et al. (2008) Oncogenic mutations of ALK kinase in neuroblastoma. Nature 455: 971-974.
12. Caren H, Abel F, Kogner P, Martinsson T, (2008) High incidence of DNA mutations and gene amplifications of the ALK gene in advanced sporadic neuroblastoma tumours. Biochem J 416: 153-159.
13. De Brouwer S, De Preter K, Kumps C, Zabrocki P, Porcu M, et al. (2010) Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification. Clin Cancer Res 16: 4353-4362.
14. Mosse YP, Laudenslager M, Longo L, Cole KA, Wood A, et al. (2008) Identification of ALK as a major familial neuroblastoma predisposition gene. Nature 455: 930-935.
15. Janoueix-Lerosey I, Lequin D, Brugieres L, Ribeiro A, de Pontual L, et al. (2008) Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma. Nature 455: 967-970.
16. Bourdeaut F, Ferrand S, Brugieres L, Hilbert M, Ribeiro A, et al. (2012) ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome. Eur J Hum Genet 20: 291-297.
17. Albertson DG, Pinkel D, (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12 Spec No 2: R145-152.
18. Brodeur GM, Pritchard J, Berthold F, Carlsen NL, Castel V, et al. (1993) Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. J Clin Oncol 11: 1466-1477.
19. Garaventa A, De Bernardi B, Pianca C, Donfrancesco A, Cordero di Montezemolo L, et al. (1993) Localized but unresectable neuroblastoma: treatment and outcome of 145 cases. Italian Cooperative Group for Neuroblastoma. J Clin Oncol 11: 1770-1779.
20. Gigliotti AR, Di Cataldo A, Sorrentino S, Parodi S, Rizzo A, et al. (2009) Neuroblastoma in the newborn. A study of the Italian Neuroblastoma Registry. Eur J Cancer 45: 3220-3227.
21. Carr J, Bown NP, Case MC, Hall AG, Lunec J, et al. (2007) High-resolution analysis of allelic imbalance in neuroblastoma cell lines by single nucleotide polymorphism arrays. Cancer Genet Cytogenet 172: 127-138.
22. Michels E, Vandesompele J, De Preter K, Hoebeeck J, Vermeulen J, et al. (2007) ArrayCGH-based classification of neuroblastoma into genomic subgroups. Genes Chromosomes Cancer 46: 1098-1108.
23. Kryh H, Caren H, Erichsen J, Sjoberg RM, Abrahamsson J, et al. (2011) Comprehensive SNP array study of frequently used neuroblastoma cell lines; copy neutral loss of heterozygosity is common in the cell lines but uncommon in primary tumors. BMC Genomics 12: 443.
24. Forloni M, Albini S, Limongi MZ, Cifaldi L, Boldrini R, et al. (2010) NF-kappaB, and not MYCN, regulates MHC class I and endoplasmic reticulum aminopeptidases in human neuroblastoma cells. Cancer Res 70: 916-924.
25. Lutz W, Stohr M, Schurmann J, Wenzel A, Lohr A, et al. (1996) Conditional expression of N-myc in human neuroblastoma cells increases expression of alpha-prothymosin and ornithine decarboxylase and accelerates progression into S-phase early after mitogenic stimulation of quiescent cells. Oncogene 13: 803-812.
26. Gorokhova S, Bibert S, Geering K, Heintz N, (2007) A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase. Hum Mol Genet 16: 2394-2410.
27. Bocciardi R, Giorda R, Marigo V, Zordan P, Montanaro D, et al. (2005) Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene. Hum Mutat 26: 426-436.
28. Yue Y, Stout K, Grossmann B, Zechner U, Brinckmann A, et al. (2006) Disruption of TCBA1 associated with a de novo t(1;6)(q32.2;q22.3) presenting in a child with developmental delay and recurrent infections. J Med Genet 43: 143-147.
29. Palladino MJ, Bower JE, Kreber R, Ganetzky B, (2003) Neural dysfunction and neurodegeneration in Drosophila Na+/K+ ATPase alpha subunit mutants. J Neurosci 23: 1276-1286.
30. Rhinn M, Dolle P, (2012) Retinoic acid signalling during development. Development 139: 843-858.
31. Reynolds CP, Schindler PF, Jones DM, Gentile JL, Proffitt RT, et al. (1994) Comparison of 13-cis-retinoic acid to trans-retinoic acid using human neuroblastoma cell lines. Prog Clin Biol Res 385: 237-244.
32. Sidell N, Altman A, Haussler MR, Seeger RC, (1983) Effects of retinoic acid (RA) on the growth and phenotypic expression of several human neuroblastoma cell lines. Exp Cell Res 148: 21-30.
33. Mathew P, Valentine MB, Bowman LC, Rowe ST, Nash MB, et al. (2001) Detection of MYCN gene amplification in neuroblastoma by fluorescence in situ hybridization: a pediatric oncology group study. Neoplasia 3: 105-109.
34. Shimada H, Ambros IM, Dehner LP, Hata J, Joshi VV, et al. (1999) The International Neuroblastoma Pathology Classification (the Shimada system). Cancer 86: 364-372.
35. Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, et al. (2004) PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet 41: 373-380.
36. Livak KJ, Schmittgen TD, (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408.