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Occurrence of Neuroblastoma among TP53 p.R337H Carriers

Ana Luiza Seidinger1, Fernanda Paschoal Fortes1, Maria José Mastellaro2

  • 1Molecular Biology Laboratory, Boldrini Children's Center, Campinas, Sao Paulo, Brazil.

Plos One
|October 10, 2015
PubMed

Insights

The TP53 p.R337H mutation, linked to childhood cancers, is also found in neuroblastoma patients. This genetic carrier status may influence tumor stage and warrants consideration in genetic counseling and surveillance.

Area of Science:

  • Oncology
  • Genetics
  • Pediatric Medicine

Background:

  • The TP53 p.R337H mutation is prevalent in Brazilian children with adrenocortical tumors and choroid plexus carcinoma.
  • Concomitant neuroblastoma and adrenocortical tumors in p.R337H carriers prompted investigation into this association.

Purpose of the Study:

  • To investigate the association between the TP53 p.R337H mutation and pediatric neuroblastoma.
  • To determine the frequency of the p.R337H mutation in neuroblastoma patients and its clinical impact.

Main Methods:

  • Genomic DNA screening for the TP53 p.R337H mutation in 83 neuroblastoma patients.
  • Immunohistochemical analysis for nuclear p53 accumulation and loss of heterozygosity in tumor samples.
  • Clinical data review to assess the impact of the 337H allele on disease presentation.

Main Results:

  • The TP53 p.R337H mutation was identified in 8.4% (7/83) of the neuroblastoma cohort.
  • Nuclear p53 accumulation was observed in p.R337H-positive tumors; loss of heterozygosity was not detected.
  • The 337H allele was associated with a higher proportion of stage I neuroblastoma tumors.

Conclusions:

  • The TP53 p.R337H mutation is associated with pediatric neuroblastoma, in addition to other known associated cancers.
  • Genetic counseling and clinical surveillance for p.R337H carriers should include neuroblastoma as a potential risk.

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