Pediatric mortality from neurofibromatosis and malignant peripheral nerve sheath tumors in Brazil, 2008-2023: a 16-year nationwide analysis of persistent disparities.

PURPOSE: Neurofibromatosis (NF) comprises genetic tumor predisposition syndromes with multisystem involvement, yet pediatric mortality data remain scarce in middle-income settings. Malignant peripheral nerve sheath tumors (MPNST) represent the leading cause of premature death in this population. This study analyzed 16-year temporal trends and regional disparities in pediatric NF/MPNST mortality and hospitalizations in Brazil.

METHODS

We conducted a nationwide ecological study of individuals aged 0-19 years from 2008 to 2023. Mortality data were obtained from the Mortality Information System (SIM) and hospital admissions from the Hospital Information System (SIH/SUS), with temporal trends assessed using Prais-Winsten regression. We calculated Age-Specific Mortality Rates (ASMRs) and assessed excess mortality risk using Standardized Mortality Ratios (SMR) to identify regional disparities.

RESULTS

A total of 177 pediatric deaths were identified, with MPNST accounting for 64.9% (N = 115) and NF for 35.1% (N = 62). SMR analysis revealed significant geographic inequalities. Children aged 0-9 in the South region faced a mortality risk double that of the reference population (SMR = 2.02; 95% CI 1.08-3.46; p = 0.010), whereas adolescents in the North region exhibited significantly lower-than-expected mortality. Despite global therapeutic advances, mortality rates in Brazil remained statistically stagnant across all age groups and conditions (p values were non-significant). Conversely, NF-related hospitalizations demonstrated an increasing trend (+ 2.98% annually for ages 0-9; + 1.94% for ages 10-19), while MPNST admissions remained stable.

CONCLUSION

Pediatric mortality from NF and MPNST in Brazil has remained unchanged for 16 years, contrasting with the rising trend in NF-related hospitalizations. This discrepancy, coupled with marked regional disparities, suggests persistent structural challenges in early diagnosis and equitable access to specialized oncology care. These findings highlight a critical need for national notification systems and improved therapeutic strategies for affected children and adolescents.