Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: A systematic review and updated meta-analysis
- Authors
- Lee, H.; Jeong, S.; Yu, Y.; Kang, J.; Sun, H.; Rhee, J.-K.; Kim, Y.H.
- Issue Date
- Apr-2020
- Publisher
- BMJ Publishing Group
- Keywords
- genetic epidemiology; genetic screening/counselling; neuro endocrinology; pheochromocytoma and paraganglioma; SDHx mutation
- Citation
- Journal of Medical Genetics, v.57, no.04, pp.217 - 225
- Journal Title
- Journal of Medical Genetics
- Volume
- 57
- Number
- 04
- Start Page
- 217
- End Page
- 225
- URI
- http://scholarworks.bwise.kr/ssu/handle/2018.sw.ssu/38749
- DOI
- 10.1136/jmedgenet-2019-106324
- ISSN
- 0022-2593
- Abstract
- Background: Pheochromocytoma and paraganglioma (PPGL) are tumours that arise from chromaffin cells. Some genetic mutations influence PPGL, among which, those in genes encoding subunits of succinate dehydrogenase (SDHA, SDHB, SDHC and SDHD) and assembly factor (SDHAF2) are the most relevant. However, the risk of metastasis posed by these mutations is not reported except for SDHB and SDHD mutations. This study aimed to update the metastatic risks, considering prevalence and incidence of each SDHx mutation, which were dealt formerly all together. Methods: We searched EMBASE and MEDLINE and selected 27 articles. The patients included in the studies were divided into three groups depending on the presence of PPGL. We checked the heterogeneity between studies and performed a meta-analysis using Hartung-Knapp-Sidik-Jonkman method based on a random effect model. Results: The highest PPGL prevalence was for SDHB mutation, ranging from 23% to 31%, and for SDHC mutation (23%), followed by that for SDHA mutation (16%). The lowest prevalence was for SDHD mutation, ranging from 6% to 8%. SDHAF2 mutation showed no metastatic events. The PPGL incidence showed a tendency similar to that of its prevalence with the highest risk of metastasis posed by SDHB mutation (12%-41%) and the lowest risk by SDHD mutation (∼4%). Conclusion: There was no integrated evidence of how SDHx mutations are related to metastatic PPGL. However, these findings suggest that SDHA, SDHB and SDHC mutations are highly associated and should be tested as indicators of metastasis in patients with PPGL. © Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
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