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

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.

Tumor primitivo neuroectodérmico de rim em criança / Primitive neuroectodermal tumor of the kidney in children

Objetivo: Caracterizar o tumor neuroectodérmico de rim como diagnóstico diferencial de tumor de Wilms e enfatizr a gravidade da doença. Métodos: Apresentamos um paciente com diagnóstico de tumor primitivo neuroectodérmico de rim, submetido a nefrectomia e ressecção completa do tumor, associadas a quimioterapia. Resultados: Inicialmente o paciente apresentou evolução favorável ao tratamento realizado, com poucas intercorrências, as quais eram relacionadas principalmente à agranulocitose decorrente da quimioterapia. Após dez meses do término da terapia o paciente apresentou recidiva tumoral em região cervical paramedular e abandonou o tratamento. Conclusão: O tumor primitivo neuroectodérmico de localização renal é muito raro e também muito grave. O papel do médico patologista é fundamental na caracterização da doença, pois utilizando de métodos histológicos e imunohistoquímicos, proporciona o diagnóstico definitivo