Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors
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SHORT COMMUNICATION
Frequency of the TP53 p.R337H mutation in a Brazilian cohort of pediatric patients with solid tumors José Antonio da Silva Feitosa1 · Pablo Ferreira das Chagas2 · Graziella Ribeiro de Sousa2 · Rosane Gomes de Paula Queiroz1 · Gustavo Alencastro Veiga Cruzeiro1,3 · Luiz Gonzaga Tone1,2 · Kleiton Silva Borges1,4,5,6 · Elvis Terci Valera1 Received: 13 April 2020 / Accepted: 8 July 2020 © Springer Nature B.V. 2020
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 Pediatric cancer · Li–Fraumeni syndrome · Tumor genetics · Rhabdomyosarcoma
Introduction
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s11033-020-05655-5) contains supplementary material, which is available to authorized users. José Antonio da Silva Feitosa and Pablo Ferreira das Chagas are sharing co-first authorship. Kleiton Silva Borges and Elvis Terci Valera have contributed equally to this work. * Kleiton Silva Borges [email protected] 1
Department of Pediatrics, University of São Paulo, Ribeirão Preto, Brasil
2
Department of Genetics Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brasil
3
Department of Pediatric Oncology, Dana‑Farber Cancer Institute, Harvard Medical School, Boston, USA
4
Division of Endocrinology, Boston Children’s Hospital, Boston, USA
5
Department of Pediatrics, Harvard Medical School, Boston, USA
6
Center for Life Sciences, 16030.17, 3 Blackfan Circle, Boston, MA 02115, USA
Childhood cancer is the second most common cause of death in children aged 1–14 years in the United States of America [1]. Germline pathogenic variants are strongly associated with a greater susceptibility to develop tumors in the pediatric age group; among these disorders the Li–Fraumeni syndrome (LFS) stands out [2, 3]. The LFS is characterized as a rare hereditary disease of an autosomal dominant trait. Diagnosis is set through the confirmation of germline mutations of the tumor suppressor gene TP53 located on chromosome 17 [3–6]. Tumors associated with LFS include breast cancer [7], brain tumors [8], leukemia [9] and adrenocortical carcinoma [10] among others. Pathogenic variations of the TP53 gene are often missense, with nonsense mutations or those that originate a truncated protein more rarely observed [3, 11]. The TP53 p.R337H is a pathogenic variant
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