Cancer Letters
Volume 228, Issue 1 , Pages 51-58 , 18 October 2005

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

  • Franck Bourdeaut

      Affiliations

    • Laboratoire de Pathologie Moléculaire des Cancers, INSERM U-509, Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France
    • Corresponding Author InformationCorresponding author. Tel.: +33 1 42 34 66 79; fax: +33 1 42 34 66 30.
    • ,
  • Delphine Trochet

      Affiliations

    • Unité de Recherche sur les Handicaps génétiques de l'Enfant, INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France
    • ,
  • Isabelle Janoueix-Lerosey

      Affiliations

    • Laboratoire de Pathologie Moléculaire des Cancers, INSERM U-509, Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France
    • ,
  • Agnès Ribeiro

      Affiliations

    • Laboratoire de Pathologie Moléculaire des Cancers, INSERM U-509, Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France
    • ,
  • Anne Deville

      Affiliations

    • Département d'oncologie pédiatrique, Hôpital Lanval, Nice, France
    • ,
  • Carole Coz

      Affiliations

    • Service d'oncologie pédiatrique, Hôpital La Timone, Marseille, France
    • ,
  • Jean-François Michiels

      Affiliations

    • Laboratoire d'anatomie Pathologique, Hôpital Pasteur, Nice, France
    • ,
  • Stanislas Lyonnet

      Affiliations

    • Unité de Recherche sur les Handicaps génétiques de l'Enfant, INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France
    • ,
  • Jeanne Amiel

      Affiliations

    • Unité de Recherche sur les Handicaps génétiques de l'Enfant, INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France
    • ,
  • Olivier Delattre

      Affiliations

    • Laboratoire de Pathologie Moléculaire des Cancers, INSERM U-509, Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France

Received 8 December 2004 ,Accepted 12 January 2005.

References 

  1. Altura RA, Maris JM, Li H, Boyett JM, Brodeur GM, Look AT. Novel regions of chromosomal loss in familial neuroblastoma by comparative genomic hybridization. Genes Chromosomes Cancer. 1997;19:176–184
  2. Mosse Y, Greshock J, King A, Khazi D, Weber BL, Maris JM. Identification and high-resolution mapping of a constitutional 11q deletion in an infant with multifocal neuroblastoma. Lancet Oncol. 2001;4:769–771
  3. Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ, et al. Familial predisposition to neuroblastoma does not map to chromosome band 1p36. Cancer Res. 1996;56:3421–3425
  4. Maris JM, Weiss MJ, Mosse Y, Hii G, Guo C, White PS, et al. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. Cancer Res. 2002;62:6651–6658
  5. Perri P, Longo L, Cusano R, McConville CM, Rees SA, Devoto M, et al. Weak linkage at 4p16 to predisposition for human neuroblastoma. Oncogene. 2002;21:8356–8360
  6. Iwamoto T, Taniguchi M, Wajjwalku W, Nakashima I, Takahashi M. Neuroblastoma in a transgenic mouse carrying a metallothionein/ret fusion gene. Br. J. Cancer. 1993;67:504–507
  7. Maris JM, Kyemba SM, Rebbeck TR, White PS, Sulman EP, Jensen SJ, et al. Molecular genetic analysis of familial neuroblastoma. Eur. J. Cancer. 1997;33:1923–1928
  8. Mollaaghababa R, Pavan WJ. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene. 2003;19:3024–3034
  9. Morin X, Cremer H, Hirsch MR, Kapur RP, Goridis C, Brunet JF. Defects in sensory and autonomic ganglia and absence of locus coeruleus in mice deficient for the homeobox gene Phox2a. Neuron. 1997;18:411–423
  10. Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, et al. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat. Genet. 2001;29:315–320
  11. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature. 1999;27:366–370
  12. Adachi M, Browne D, Lewis EJ. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta-hydroxylase gene transcription. DNA Cell Biol. 2000;19:539–554
  13. Cross SH, Morgan JE, Pattyn A, West K, McKie L, Hart A, et al. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. Hum. Mol. Genet. 2004;13:1433–1439
  14. Dauger S, Pattyn A, Lofaso F, Gaultier C, Goridis C, Gallego J, et al. Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways. Development. 2003;130:6635–6642
  15. Guillemot F, Lo LC, Johnson JE, Auerbach A, Anderson DJ, Joyner AL. Mammalian achaete–scute homolog 1 is required for the early development of olfactory and autonomic neurons. Cell. 1993;75:463–476
  16. Huber K, Bruhl B, Guillemot F, Olson EN, Ernsberger U, Unsicker K. Development of chromaffin cells depends on MASH1 function. Development. 2002;129:4729–4738
  17. Tsarovina K, Pattyn A, Stubbusch J, Muller F, van der Wees J, Schneider C, et al. Essential role of Gata transcription factors in sympathetic neuron development. Development. 2004;131:4775–4786
  18. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat. Genet. 2003;33:459–461
  19. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, et al. Molecular analysis of congenital central hypoventilation syndrome. Hum. Genet. 2003;114:22–26
  20. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, et al. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am. J. Med. Genet. 2003;123A:267–278
  21. Benailly HK, Lapierre JM, Laudier B, Amiel J, Attie T, De Blois MC, et al. PMX2B, a new candidate gene for Hirschsprung's disease. Clin. Genet. 2003;64:204–209
  22. Garcia-Barcelo M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. Gut. 2003;52:563–567
  23. Mosse YP, Laudenslager M, Khazi D, Carlisle AJ, Winter CL, Rappaport E, et al. Germline PHOX2B mutation in hereditary neuroblastoma. Am. J. Hum. Genet. 2004;75:727–730
  24. Limpt VV, Schramm A, Lakeman A, Sluis PV, Chan A, Noesel MV, et al. The Phox2B homeobox gene is mutated in sporadic neuroblastomas. Oncogene. 2004;1–9
  25. Ball DW. Achaete–scute homolog-1 and Notch in lung neuroendocrine development and cancer. Cancer Lett. 2004;2:159–169
  26. Mhawech P, Berczy M, Assaly M, Herrmann F, Bouzourene H, Allal AS, et al. Human achaete–scute homologue (hASH1) mRNA level as a diagnostic marker to distinguish esthesioneuroblastoma from poorly differentiated tumors arising in the sinonasal tract. Am. J. Clin. Pathol. 2004;122:100–105
  27. Ichimiya S, Nimura Y, Seki N, Ozaki T, Nagase T, Nakagawara A. Downregulation of hASH1 is associated with the retinoic acid-induced differentiation of human neuroblastoma cell lines. Med. Pediatr. Oncol. 2001;36:132–134
  28. Amiel J, Trochet D, Clement-Ziza M, Munnich A, Lyonnet S. Polyalanine expansions in human. Hum. Mol. Genet. 2004;13:R235–R243
  29. D. Trochet, F. Bourdeaut, I. Janoueix-Lerosey, A. Deville, L. de Pontual, G. Schleiermacher et al, Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in hereditary neuroblastoma, Am J Hum Genet, 4 (2004) 761–764.

PII: S0304-3835(05)00329-0

doi: 10.1016/j.canlet.2005.01.055

Cancer Letters
Volume 228, Issue 1 , Pages 51-58 , 18 October 2005

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