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. 2020 Aug;47(8):6439-6443.
doi: 10.1007/s11033-020-05655-5. Epub 2020 Jul 15.

Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors

José Antonio da Silva Feitosa  1 , Pablo Ferreira das Chagas  2 , Graziella Ribeiro de Sousa  2 , Rosane Gomes de Paula Queiroz  1 , Gustavo Alencastro Veiga Cruzeiro  1   3 , Luiz Gonzaga Tone #  1   2 , Kleiton Silva Borges #  4   5   6   7 , Elvis Terci Valera  1
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Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors

José Antonio da Silva Feitosa et al. Mol Biol Rep. 2020 Aug.

Abstract

TP53 p.R337H germline mutation is highly prevalent in the Southern region of Brazil. We sought to investigate TP53 p.R337H mutation in pediatric tumor samples from a population settled in a geographic area of high prevalence for this variant. Mutation assessment and genetic counseling for carriers/relatives were provided. 6/57 tumor samples were heterozygous for TP53 p.R337H. As expected, a high frequency was observed within adrenocortical tumors (3/3) and choroid plexus carcinomas (2/2). Interestingly, the TP53 R337H mutation was found in one case of pediatric rhabdomyosarcoma with Li-Fraumeni pedigree. Our finding expands the spectrum of childhood cancer associated with this germline mutation.

Keywords: Li–Fraumeni syndrome; Pediatric cancer; Rhabdomyosarcoma; Tumor genetics.

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