Portal de Periódicos da CAPES

Artigo Acesso aberto Produção Nacional Revisado por pares

BIBTEX RIS

Newborn Screening for the Detection of the TP53 R337H Variant and Surveillance for Early Diagnosis of Pediatric Adrenocortical Tumors: Lessons Learned and Way Forward

2021; Multidisciplinary Digital Publishing Institute; Volume: 13; Issue: 23 Linguagem: Inglês

10.3390/cancers13236111

2072-6694

Karina C. F. Tosin, Edith F. Legal, Mara Albonei Dudeque Pianovski, Humberto C. Ibañez, Gislaine Custódio, Denise Siqueira de Carvalho, Mirna M. O. Figueiredo, Anselmo Hoffmann Filho, C. Fiori, Ana Luiza Melo Rodrigues, Rosiane Guetter Mello, Karin Rosa Persegona Ogradowski, Ivy Z.S. Parise, Tatiana El Jaick Bonifácio Costa, Viviane Serra Melanda, Flora Mitie Watanabe, Denise Brentan Silva, Heloísa Komechen, Henrique Aparecido Laureano, Edna K. Carboni, A. P. K. P. BOM, Gabriela C. F. Luiz, Leniza Lima, Tiago Tormen, Viviane K. Q. Gerber, T Anegawa, Sylvio Gilberto Andrade Avilla, Renata Barreto Tenório, Elaine Lustosa Mendes, Rayssa Danilow Fachin Donin, Josiane Souza, Vanessa Nascimento Kozak, Gisele Santos de Oliveira, Deivid Calebe De Souza, Israel Gomy, Vinicius B. Teixeira, Helena Hiemisch Lobo Borba, Nilton Kiesel Filho, Guilherme A. Parise, Raul C. Ribeiro, Bonald C. Figueiredo,

Glioma Diagnosis and Treatment

The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012-2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance.