Brain and Spine Tumors Related to Genetic syndromes in Mexican Population

Introduction: Brain neoplasms can be related to genetic syndromes such as neurofibromatosis type 1 and 2 (NF1/2), tuberous sclerosis and Von Hippel-Lindau disease (VHL). These syndromes represent a challenge due to their low frequency and scarce description in the Latin population. The objectives of this study are to describe the population of patients diagnosed with brain tumors related to these syndromes and to compare their characteristics with the global literature.

Methods: We conducted a retrospective cohort study (observational and descriptive). We describe the main characteristics of subjects diagnosed with any of these syndromes from 2016 to 2022. Regarding statistics, normality tests were applied and then mean and standard deviation were used to describe normal variables and median and range for non-normal variables. The Wilcoxon test was used to evaluate the impact of surgical treatment on the functional status of the patients and chi-square for categorical variables.

Results: 47 subjects were identified, 25 of them with a diagnosis of VHL disease, five with NF1, 15 with NF2 and two with tuberous sclerosis. The frequency of sexes and tumor type in each syndrome is similar to that reported. There is a difference in the frequency of each syndrome, with VHL and NF2 being the most frequent. The mean age at diagnosis is higher in our population. Neurofibromatosis 2 has a higher frequency of meningiomas.

Conclusion : This study is one of the largest case series of nervous system neoplasms associated with genetic syndromes in the Latino population. There are contrasting results with the literature that encourage further studies in our population.