Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

European Journal of Cancer

Volumn 43, Issue 16, 2007, Pages 2366-2372

  de Pontual, Loïc ^a   Trochet, Delphine ^a   Bourdeaut, Franck ^b   Thomas, Sophie ^a   Etchevers, Heather ^a   Chompret, Agnes ^c   Minard, Véronique ^c   Valteau, Dominique ^c   Brugieres, Laurence ^c   Munnich, Arnold ^a   Delattre, Olivier ^b   Lyonnet, Stanislas ^a   Janoueix Lerosey, Isabelle ^b   Amiel, Jeanne ^a  

^a INSERM   (France)

^b INSTITUT CURIE   (France)

^c INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

Methylation; Neural crest; Neuroblastoma; PHOX2B

Indexed keywords

CPG OLIGODEOXYNUCLEOTIDE; HOMEODOMAIN PROTEIN; PROTEIN PHOX2B; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTONOMIC DYSFUNCTION; CANCER CELL; CHROMOSOME 4P; CLINICAL ARTICLE; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENE SILENCING; HETEROZYGOSITY LOSS; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; LUNG ALVEOLUS HYPOVENTILATION; METHYLATION; NEUROBLASTOMA; PRIORITY JOURNAL;

CELL LINE, TUMOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENE SILENCING; GENETIC PREDISPOSITION TO DISEASE; HOMEODOMAIN PROTEINS; HUMANS; LOSS OF HETEROZYGOSITY; MALE; METHYLATION; NEUROBLASTOMA; PEDIGREE; TRANSCRIPTION FACTORS;

EID: 35548954628     PISSN: 09598049     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejca.2007.07.016     Document Type: Article

References (29)

1. Amiel J., Laudier B., Attie-Bitach T., et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33 4 (2003) 459-461
2. Trochet D., Bourdeaut F., Janoueix-Lerosey I., et al. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74 4 (2004) 761-764
3. van Limpt V., Schramm A., van Lakeman A., et al. The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene 23 57 (2004) 9280-9288
4. Perri P., Bachetti T., Longo L., et al. PHOX2B mutations and genetic predisposition to neuroblastoma. Oncogene 24 18 (2005) 3050-3053
5. Mosse Y.P., Laudenslager M., Khazi D., et al. Germline PHOX2B mutation in hereditary neuroblastoma. Am J Hum Genet 75 4 (2004) 727-730
6. Trochet D., O'Brien L.M., Gozal D., et al. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76 3 (2005) 421-426
7. van Limpt V., Chan A., Schramm A., et al. Phox2B mutations and the Delta-Notch pathway in neuroblastoma. Cancer Lett 228 1-2 (2005) 59-63
8. McConville C., Reid S., Baskcomb L., et al. PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. Am J Med Genet A 140 12 (2006) 1297-1301
9. Teitz T., Wei T., Valentine M.B., et al. Caspase 8 is deleted or silenced preferentially in childhood neuroblastomas with amplification of MYCN. Nat Med 6 5 (2000) 529-535
10. Abe M., Ohira M., Kaneda A., et al. CpG island methylator phenotype is a strong determinant of poor prognosis in neuroblastomas. Cancer Res 65 3 (2005) 828-834
11. Banelli B., Di Vinci A., Gelvi I., et al. DNA methylation in neuroblastic tumors. Cancer Lett 228 1-2 (2005) 37-41
12. Esteller M., Fraga M.F., Guo M., et al. DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet 10 26 (2001) 3001-3007
13. Ushijima T., and Okochi-Takada E. Aberrant methylations in cancer cells: where do they come from?. Cancer Sci 96 4 (2005) 206-211
14. Herman J.G., Graff J.R., Myohanen S., et al. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci U S A 93 18 (1996) 9821-9826
15. Caron H., van Sluis P., de Kraker J., et al. Allelic loss of chromosome 1p as a predictor of unfavorable outcome in patients with neuroblastoma. N Engl J Med 334 4 (1996) 225-230
16. Perri P., Longo L., Cusano R., et al. Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene 21 54 (2002) 8356-8360
17. Okuse K., Mizuno N., Matsuoka I., et al. Induction of cholinergic and adrenergic differentiation in N-18 cells by differentiation agents and DNA demethylating agents. Brain Res 626 1-2 (1993) 225-233
18. Bartolucci S., Estenoz M., Longo A., et al. 5-Aza-2'-deoxycytidine as inducer of differentiation and growth inhibition in mouse neuroblastoma cells. Cell Differ Dev 27 1 (1989) 47-55
19. van Noesel M.M., van Bezouw S., Voute P.A., et al. Clustering of hypermethylated genes in neuroblastoma. Genes Chromosomes Cancer 38 3 (2003) 226-233
20. Yang Q., Zage P., Kagan D., et al. Association of epigenetic inactivation of RASSF1A with poor outcome in human neuroblastoma. Clin Cancer Res 10 24 (2004) 8493-8500
21. Knudson Jr. A.G., and Meadows A.T. Developmental genetics of neuroblastoma. J Natl Cancer Inst 57 3 (1976) 675-682
22. Dubreuil V., Hirsch M.R., Pattyn A., et al. The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity. Development 127 23 (2000) 5191-5201
23. Pattyn A., Morin X., Cremer H., et al. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature 399 6734 (1999) 366-370
24. Trochet D., Hong S.J., Lim J.K., et al. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet 14 23 (2005) 3697-3708
25. Bachetti T., Borghini S., Ravazzolo R., et al. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. Gene Expr 12 3 (2005) 137-149
26. Carr J., Bell E., Pearson A.D., et al. Increased frequency of aberrations in the p53/MDM2/p14(ARF) pathway in neuroblastoma cell lines established at relapse. Cancer Res 66 4 (2006) 2138-2145
27. Theise N.D., and Krause D.S. Toward a new paradigm of cell plasticity. Leukemia 16 4 (2002) 542-548
28. Maris J.M., Weiss M.J., Mosse Y., et al. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res 62 22 (2002) 6651-6658
29. Maris J.M. The biologic basis for neuroblastoma heterogeneity and risk stratification. Curr Opin Pediatr 17 1 (2005) 7-13