Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/242882
Type: Artigo de periódico
Title: Occurrence Of Neuroblastoma Among Tp53 P.r337h Carriers
Author: Seidinger
Ana Luiza; Fortes
Fernanda Paschoal; Mastellaro
Maria Jose; Cardinalli
Izilda Aparecida; Zambaldi
Lilian Girotto; Aguiar
Simone Santos; Yunes
Jose Andres
Abstract: 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 20002014 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.R337Hmutation 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.
Subject: Li-fraumeni-syndrome
Tumor-suppressor Gene
Simultaneous Adrenocortical Carcinoma
Germline P53 Mutation
Breast-cancer
Southern Brazil
Familial Syndrome
R337h Mutation
Neoplasms
Frequency
Country: SAN FRANCISCO
Editor: PUBLIC LIBRARY SCIENCE
Citation: Occurrence Of Neuroblastoma Among Tp53 P.r337h Carriers. Public Library Science, v. 10, p. OCT-2015.
Rights: aberto
Identifier DOI: 10.1371/journal.pone.0140356
Address: http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140356
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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