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Penetrance of the TP53 R337H Mutation and Pediatric Adrenocortical Carcinoma Incidence Associated with Environmental Influences in a 12-Year Observational Cohort in Southern Brazil

2019; Multidisciplinary Digital Publishing Institute; Volume: 11; Issue: 11 Linguagem: Inglês

10.3390/cancers11111804

2072-6694

Tatiana El Jaick Bonifácio Costa, Viviane K. Q. Gerber, Humberto C. Ibañez, Viviane Serra Melanda, Ivy Z.S. Parise, Flora Mitie Watanabe, Mara Albonei Dudeque Pianovski, C. Fiori, Ana Luiza M. R. Fabro, Denise Brentan Silva, Diancarlos Pereira de Andrade, Heloísa Komechen, Monalisa Castilho Mendes, Edna K. Carboni, A. P. K. P. BOM, Emanuelle Nunes de Souza, Mariana M. Paraizo, Marilea V. C. Ibañez, Laura M. Castilho, Ana Margarita de la Cruz, Teresa Maia, Cleber Machado‐Souza, Roberto Rosati, Cláudia S. Oliveira, Guilherme A. Parise, Joanir Pereira Passos, José Renato S. Barbosa, Mirna M. O. Figueiredo, Leniza Lima, Tiago Tormen, Cesar C. Sabbaga, Sylvio Gilberto Andrade Avilla, Leila Grisa, A. S. Aranha, Karina C. F. Tosin, Karin Rosa Persegona Ogradowski, Geneci F.R. Lima, Edith F. Legal, T Anegawa, Tânia Longo Mazzuco, André Luiz Grion, José H. G. Balbinotti, Karin Luiza Dammski, Rita Melo, Nilton Kiesel Filho, Gislaine Custódio, Bonald C. Figueiredo,

Retinoids in leukemia and cellular processes

The TP53 R337H mutation is associated with increased incidence of pediatric adrenocortical tumor (ACT). The different environmental conditions where R337H carriers live have not been systematically analyzed. Here, the R337H frequencies, ACT incidences, and R337H penetrance for ACT were calculated using the 2006 cohort with 4165 R337H carriers living in Paraná state (PR) subregions. The effectiveness of a second surveillance for R337H probands selected from 42,438 tested newborns in PR (2016 cohort) was tested to detect early stage I tumor among educated families without periodical exams. Estimation of R337H frequencies and ACT incidence in Santa Catarina state (SC) used data from 50,115 tested newborns without surveillance, ACT cases from a SC hospital, and a public cancer registry. R337H carrier frequencies in the population were 0.245% (SC) and 0.306% (PR), and 87% and 95% in ACTs, respectively. The ACT incidence was calculated as ~6.4/million children younger than 10 years per year in PR (95% CI: 5.28; 7.65) and 4.15/million in SC (CI 95%: 2.95; 5.67). The ACT penetrance in PR for probands followed from birth to 12 years was 3.9%. R337H carriers living in an agricultural subregion (C1) had a lower risk of developing pediatric ACT than those living in industrial and large urban subregion (relative risk = 2.4). One small ACT (21g) without recurrence (1/112) was detected by the parents in the 2016 cohort. ACT incidence follows R337H frequency in each population, but remarkably environmental factors modify these rates.