Molecular Diagnosis & Therapy

, Volume 17, Issue 2, pp 63–69

New Insights into the Genetics of Neuroblastoma

Implications for Diagnosis and Therapy
  • Srishma Sridhar
  • Batool Al-Moallem
  • Hawra Kamal
  • Marta Terrile
  • Raymond L. Stallings
Review Article

DOI: 10.1007/s40291-013-0019-6

Cite this article as:
Sridhar, S., Al-Moallem, B., Kamal, H. et al. Mol Diagn Ther (2013) 17: 63. doi:10.1007/s40291-013-0019-6

Abstract

Neuroblastoma is a genetically and clinically heterogeneous tumor of childhood, arising from precursor cells of the sympathetic nervous system. It is still a challenging cancer for pediatric oncology, as some tumors will spontaneously regress, while others will become refractory to all forms of therapy. The clinical course of this disease is greatly influenced by both patient age and the genetic abnormalities that occur within the tumors. MYCN (v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)) amplification and loss of chromosome 11q heterozygosity have been known to be indicative of poor prognosis. In this article, we review how mutations and structural alterations in specific genes contribute to inheritable predisposition to neuroblastoma and/or to aggressive disease pathogenesis, as well as implications for diagnosis and therapy. These genes include PHOX2B (paired-like homeobox 2b), ALK (anaplastic lymphoma receptor tyrosine kinase), and ATRX (alpha thalassemia/mental retardation syndrome X-linked).

Copyright information

© Springer International Publishing Switzerland 2013

Authors and Affiliations

  • Srishma Sridhar
    • 1
  • Batool Al-Moallem
    • 1
  • Hawra Kamal
    • 1
  • Marta Terrile
    • 2
    • 3
  • Raymond L. Stallings
    • 2
    • 3
  1. 1.School of MedicineRoyal College of Surgeons in Ireland, BahrainManamaBahrain
  2. 2.Department of Molecular and Cellular TherapeuticsRoyal College of Surgeons in Ireland, York HouseDublin 2Ireland
  3. 3.National Children’s Research Centre, Our Lady’s Children’s HospitalDublinIreland

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