+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Occurrence of Neuroblastoma among TP53 p.R337H Carriers



Occurrence of Neuroblastoma among TP53 p.R337H Carriers



Plos One 10(10): E0140356



The high incidence of adrenocortical tumors and choroid plexus carcinoma in children from South and Southeastern regions of Brazil is associated with the germline p.R337H mutation of TP53 gene. The concomitant occurrence of neuroblastoma and adrenocortical tumors in pediatric patients harboring the p.R337H mutation at our institution prompted us to investigate the putative association between p.R337H and pediatric neuroblastoma. Genomic DNA samples from 83 neuroblastoma patients referred to a single institution during the period of 2000-2014 were screened for the p.R337H mutation. Available samples from carriers were investigated for both nuclear p53 accumulation and loss of heterozigosity in tumor. Clinical data were obtained from medical records in order to assess the impact of 337H allele on manifestation of the disease. Seven out 83 neuroblastoma patients (8.4%) were carriers of the TP53 p.R337H mutation in our cohort. Immunohistochemical analysis of p.R337H-positive tumors revealed nuclear p53 accumulation. Loss of heterozigosity was not found among available samples. The presence of 337H allele was associated with increased proportion of stage I tumors. Our data indicate that in addition to adrenocortical tumors, choroid plexus carcinoma, breast cancer and osteosarcoma, genetic counseling and clinical surveillance should consider neuroblastoma as a potential neoplasia affecting p.R337H carriers.

(PDF emailed within 0-6 h: $19.90)

Accession: 058448657

Download citation: RISBibTeXText

PMID: 26452166

DOI: 10.1371/journal.pone.0140356


Related references

The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers. Familial Cancer 14(2): 333-336, 2016

Increased oxidative damage in carriers of the germline TP53 p.R337H mutation. Plos One 7(10): E47010, 2013

Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers. Journal of Medical Genetics 41(5): 354-359, 2004

Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Human Mutation 31(2): 143-150, 2010

The R337H mutation in TP53 and breast cancer in Brazil. Hereditary Cancer in Clinical Practice 10(1): 3, 2012

Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. Journal of Medical Genetics 43(1): 91-96, 2005

A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil. Virchows Archiv 463(1): 17-22, 2013

Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. Plos One 9(6): E99893, 2015

TP53 p.R337H is a conditional cancer-predisposing mutation: further evidence from a homozygous patient. Bmc Cancer 13: 187, 2015

TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families. Hereditary Cancer in Clinical Practice 12(1): 8, 2014

Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. Bmc Cancer 8: 357, 2008

Response to Germline TP53 R337H mutation is not sufficient to establish Li-Fraumeni or Li-Fraumenilike syndrome, by Ribeiro et al. Cancer Letters 247(2): 356-358, 2007

Comparison of multiple genotyping methods for the identification of the cancer predisposing founder mutation p.R337H in TP53. Genetics and Molecular Biology 39(2): 203-209, 2016

The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer. Breast Journal 20(5): 534-536, 2015

Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. Plos One 6(3): E18015, 2011