Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS

Clinical and epidemiological characterisation of neurofibromatosis type 1: Combined analysis of a reference hospital in Brazil and DataSUS

Abstract Neurofibromatosis type 1 (NF1) is a syndrome triggered by mutations in the NF1 gene, which alter the neurofibromin protein, a negative regulator of the RAS oncogenic pathway. Due to underreporting, the scarcity of studies on NF1 in Brazil and its importance in public health. This study aime...

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Main Authors: Marina Gabriela da Silva Lins, Peterson de Jesus Morais, Júlia de Oliveira Martinho, Mariah Cristina Antunes do Nascimento, Ana Paula Simedan Vila, Márcia Maria Urbanin Castanhole-Nunes, Érika Cristina Pavarino, Eny Maria Goloni-Bertollo
Format: Article
Language:English
Published: Sociedade Brasileira de Genética 2025-04-01
Series:Genetics and Molecular Biology
Subjects:
Neurofibromatosis
neurofibroma
neoplasms
nervous system diseases
genetic diseases
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572025000100105&lng=en&tlng=en
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Summary:Abstract Neurofibromatosis type 1 (NF1) is a syndrome triggered by mutations in the NF1 gene, which alter the neurofibromin protein, a negative regulator of the RAS oncogenic pathway. Due to underreporting, the scarcity of studies on NF1 in Brazil and its importance in public health. This study aimed to assess the clinical and epidemiological characterisation of NF1 in a Reference Hospital in the country and DataSUS. The study analysed the electronic medical records of patients with NF1 and the DataSUS databases. The medical records showed a greater number of female, white and adult patients. There was a high frequency of clinical features adopted by the NIH consensus for the clinical diagnosis of the disease, such as CALMs, dermal neurofibromas and axillary/inguinal ephelides, bone and ophthalmological changes, in addition malignant and benign neoplasms and neurodevelopmental disorders. On the other hand, the data provided by DataSUS shows a disproportionate concentration of NF1 consultations between the country’s regions, with a low level of diagnoses of newborn with NF1 and a NF1 mortality rate of 3.06% in the population. There is therefore a need for new public policies on access to diagnosis, treatment and information about the disease for the Brazilian population.
ISSN:1678-4685

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