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A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?

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Abstract

Retinal capillary hemangioblastomas (RCH) is a benign tumor that represents the initial manifestation in roughly half of Von Hippel Lindau (VHL) patients. They may also occur sporadically without systemic involvement. A first meta-analysis study was investigated to estimate the prevalence of Retinal capillary hemangioblastoma (RCH) in Von Hippel Lindau (VHL) syndrome, and its relation to type and location of mutations in VHL gene. The electronic databases of PubMed, Scopus, Embase, and Google Scholar were utilized to find eligible papers published up to May 2020. Lastly, after the different prevalence of RCH in Europe compared to other continents was noted, we decided to consider European and non-European patients separately. The Random effect model was used to evaluate the relation between developing RCH and types of mutations. The overall prevalence of RCH among VHL patients is about 47%. The prevalence of RCH was significantly higher in Europe in comparison with non-Europeans (p value < 0.001). Overall, the differences between the prevalence of RCH among different mutation types were not statistically significant. However, in Europe, the prevalence of RCH was significantly higher in patients with truncation mutation (p value = 0.007). In Europe, the RCH in VHL patients who had a mutation in exon 2 was significantly lower in comparison with exon 1 (p value = 0.001); but in non-Europeans, the prevalence of RCH in VHL patients that involved exon 2 was significantly higher in comparison with VHL patients with a mutation in exon1 (p value = 0.012). The highest risk of developing RCH was reported among Europeans. Overall, this study showed that the prevalence of RCH in VHL syndrome is not related to type or location of mutations and difference of RCH prevalence is probably depends on other genetic or environmental factor that should be considered in subsequent studies.

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Acknowledgements

This research was financially supported by the Iran University of Medical Sciences, Tehran, Iran.

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  1. Department of Ophthalmology, Eye Research Center, Rassoul Akram Hospital, Eye Department, The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences, Niayesh Ave., Sattarkhan St., Tehran, 14456, Iran

    Fatemeh Azimi, Ali Aghajani, Golnaz Khakpour & Samira Chaibakhsh

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FA. performed the search, assessed the references for inclusion and extracted data from the studies, GK. Perform the final article check, SCH. Performed the statistical calculation and rechecked inclusion and extracted data. FA, AA. and SCH. wrote the main manuscript text.

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Azimi, F., Aghajani, A., Khakpour, G. et al. A meta-analysis of different von Hippel Lindau mutations: are they related to retinal capillary hemangioblastoma?. Mol Genet Genomics 297, 1615–1626 (2022). https://doi.org/10.1007/s00438-022-01940-z

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