Oligogenic inheritance in neuroblastoma

Luca Longo, Gian Paolo Tonini, Isabella Ceccherini, Patrizia Perri

Research output: Contribution to journalArticlepeer-review


Neuroblastoma (NB), a childhood malignancy affecting neural crest deriving cell lineages, is characterized by great clinical variability and histological heterogeneity. As NB usually occurs as sporadic form, molecular studies were mainly carried out on tumor samples and derived cell lines, leading to the identification of several somatic alterations. Although familial NB is rare, linkage data obtained from different families have provided evidence of linkage to markers mapping to different chromosomal regions, indicating a remarkable genetic heterogeneity of NB. The first evidence of germline mutations in NB pedigrees has been recently reported in the paired-like homeobox 2B (PHOX2B) gene, involved in the development of neural crest deriving cells. Nevertheless, as only a few NB families but not others have been shown to carry PHOX2B mutations, the role of this gene in NB predisposition has still to be clarified. On the basis of the current data, familial NB cannot be modeled as a Mendelian monogenic trait. Instead, an oligogenic mode of inheritance might explain the existence of different NB loci genetically interacting to cause and/or modify the disease-phenotype.

Original languageEnglish
Pages (from-to)65-69
Number of pages5
JournalCancer Letters
Issue number1-2
Publication statusPublished - Oct 18 2005


  • Familial neuroblastoma
  • Genetic predisposition
  • Oligogenic inheritance

ASJC Scopus subject areas

  • Cancer Research
  • Molecular Biology
  • Oncology


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