Presentation of a missense variant in a Greek patient with pheochromocytoma

Koopman K, Gaal J, de Krijger RR (2019) Pheochromocytomas and paragangliomas: new developments with regard to classification, genetics, and cell of origin. Cancers 11(8):1070. https://doi.org/10.3390/cancers11081070

Article  PubMed  PubMed Central  CAS  Google Scholar 

Favier J, Amar L, Gimenez-Roqueplo AP (2015) Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol 11(2):101–111. https://doi.org/10.1038/nrendo.2014.188

Article  PubMed  CAS  Google Scholar 

Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, Lichtenberg TM, Murray BA, Ghayee HK, Else T, Ling S, Jefferys SR, de Cubas AA, Wenz B, Korpershoek E, Amelio AL, Makowski L, Rathmell WK, Gimenez-Roqueplo AP, Giordano TJ, Asa SL, Tischler AS, Cancer Genome Atlas Research Network, Pacak K, Nathanson KL, Wilkerson MD (2017) Comprehensive molecular characterization of pheochromocytoma and paraganglioma. Cancer Cell 31(2):181–193. https://doi.org/10.1016/j.ccell.2017.01.001

Article  PubMed  PubMed Central  CAS  Google Scholar 

Remacha L, Comino-Mendez I, Richter S, Contreras L, Curras-Freixes M, Pita G, Leton R, Galarreta A, Torres-Perez R, Honrado E, Jiménez S, Maestre L, Moran S, Esteller M, Satrústegui J, Eisenhofer G, Robledo M, Cascón A (2017) Targeted exome sequencing of Krebs cycle genes reveals candidate cancer–predisposing mutations in pheochromocytomas and paragangliomas. Clin Cancer Res 23(20):6315–6324. https://doi.org/10.1158/1078-0432.CCR-16-2250

Article  PubMed  CAS  Google Scholar 

Neumann HPH, Young WF Jr, Eng C (2019) Pheochromocytoma and paraganglioma. N Engl J Med 381(6):552–565. https://doi.org/10.1056/NEJMra1806651

Luchetti A, Walsh D, Rodger F, Clark G, Martin T, Irving R, Sanna M, Yao M, Robledo M, Neumann HP, Woodward ER, Latif F, Abbs S, Martin H, Maher ER (2015) Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis. Int J Endocrinol 2015:138573. https://doi.org/10.1155/2015/138573

Article  PubMed  PubMed Central  Google Scholar 

Cascón A, Calsina B, Monteagudo M, Mellid S, Díaz-Talavera A, Currás-Freixes M, Robledo M (2023) Genetic bases of pheochromocytoma and paraganglioma. J Mol Endocrinol 70(3):e220167. https://doi.org/10.1530/JME-22-0167

Article  PubMed  Google Scholar 

Brito JP, Asi N, Bancos I, Gionfriddo MR, Zeballos-Palacios CL, Leppin AL, Undavalli C, Wang Z, Domecq JP, Prustsky G, Elraiyah TA, Prokop LJ, Montori VM, Murad MH (2015) Testing for germline mutations in sporadic pheochromocytoma/paraganglioma: a systematic review. Clin Endocrinol 82(3):338–345. https://doi.org/10.1111/cen.12530

Article  CAS  Google Scholar 

Garcia-Carbonero R, Matute Teresa F, Mercader-Cidoncha E, Mitjavila-Casanovas M, Robledo M, Tena I, Alvarez-Escola C, Arístegui M, Bella-Cueto MR, Ferrer-Albiach C, Hanzu FA (2021) Multidisciplinary practice guidelines for the diagnosis, genetic counselling and treatment of pheochromocytomas and paragangliomas. Clin Transl Oncol 23(10):1995–2019. https://doi.org/10.1007/s12094-021-02622-9

Article  PubMed  PubMed Central  CAS  Google Scholar 

Nölting S, Bechmann N, Taieb D, Beuschlein F, Fassnacht M, Kroiss M, Eisenhofer G, Grossman A, Pacak K (2022) Personalized management of pheochromocytoma and paraganglioma. Endocr Rev 43(2):199–239. https://doi.org/10.1210/endrev/bnab019

Article  PubMed  Google Scholar 

Gimenez-Roqueplo AP, Robledo M, Dahia PLM (2023) Update on the genetics of paragangliomas. Endocr Relat Cancer 30(4):e220373. https://doi.org/10.1530/ERC-22-0373

Article  PubMed  PubMed Central  CAS  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, Laboratory Quality Assurance Committee ACMG (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Calsina B, Currás-Freixes M, Buffet A, Pons T, Contreras L, Letón R, Comino-Méndez I, Remacha L, Calatayud M, Obispo B, Martin A, Cohen R, Richter S, Balmaña J, Korpershoek E, Rapizzi E, Deutschbein T, Vroonen L, Favier J, de Krijger RR, Fassnacht M, Beuschlein F, Timmers HJ, Eisenhofer G, Mannelli M, Pacak K, Satrústegui J, Rodríguez-Antona C, Amar L, Cascón A, Dölker N, Gimenez-Roqueplo AP, Robledo M (2018) Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients. Genet Med 20(12):1652–1662. https://doi.org/10.1038/s41436-018-0068-7

Article  PubMed  PubMed Central  CAS  Google Scholar 

Wang Y, Liu B, Li F, Zhang Y, Gao X, Wang Y, Zhou H (2023) The connection between tricarboxylic acid cycle enzyme mutations and pseudohypoxic signaling in pheochromocytoma and paraganglioma. Front Endocrinol 14:1274239. https://doi.org/10.3389/fendo.2023.1274239

Article  Google Scholar 

Cascón A, Comino-Méndez I, Currás-Freixes M, de Cubas AA, Contreras L, Richter S, Peitzsch M, Mancikova V, Inglada-Pérez L, Pérez-Barrios A, Calatayud M, Azriel S, Villar-Vicente R, Aller J, Setién F, Moran S, Garcia JF, Río-Machín A, Letón R, Gómez-Graña Á, Apellániz-Ruiz M, Roncador G, Esteller M, Rodríguez-Antona C, Satrústegui J, Eisenhofer G, Urioste M, Robledo M (2015) Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene. J Natl Cancer Inst 107(5):djv053. https://doi.org/10.1093/jnci/djv053

Article  PubMed  CAS  Google Scholar 

Mellid S, Gil E, Letón R, Caleiras E, Honrado E, Richter S, Palacios N, Lahera M, Galofré JC, López-Fernández A, Calatayud M, Herrera-Martínez AD, Galvez MA, Matias-Guiu X, Balbín M, Korpershoek E, Lim ES, Maletta F, Lider S, Fliedner SMJ, Bechmann N, Eisenhofer G, Canu L, Rapizzi E, Bancos I, Robledo M, Cascón A (2023) Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma. Front Endocrinol (Lausanne) 13:1070074. https://doi.org/10.3389/fendo.2022.1070074

Article  PubMed  PubMed Central  Google Scholar 

Xu W, Li Y, Liu C, Zhao S (2014) Protein lysine acetylation guards metabolic homeostasis to fight against cancer. Oncogene 33(18):2279–2285. https://doi.org/10.1038/onc.2013.163

Article  PubMed  CAS  Google Scholar 

Jungtrakoon Thamtarana P, Marucci A, Pannone L, Bonnefond A, Pezzilli S, Biagini T, Buranasupkajorn P, Hastings T, Mendonca C, Marselli L, Di Paola R, Abubakar Z, Mercuri L, Alberico F, Flex E, Ceròn J, Porta-de-la-Riva M, Ludovico O, Carella M, Martinelli S, Marchetti P, Mazza T, Froguel P, Trischitta V, Doria A, Prudente S (2022) Gain of function of Malate dehydrogenase 2 and familial hyperglycemia. J Clin Endocrinol Metab 107(3):668–684. https://doi.org/10.1210/clinem/dgab790

Article  PubMed  Google Scholar 

Eto K, Tsubamoto Y, Terauchi Y, Sugiyama T, Kishimoto T, Takahashi N, Yamauchi N, Kubota N, Murayama S, Aizawa T, Akanuma Y, Aizawa S, Kasai H, Yazaki Y, Kadowaki T (1999) Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion. Science 283(5404):981–985. https://doi.org/10.1126/science.283.5404.981

Article  PubMed  CAS  Google Scholar 

Cheng Z, Tseng Y, White MF (2010) Insulin signaling meets mitochondria in metabolism. Trends Endocrinol Metab 21(10):589–598. https://doi.org/10.1016/j.tem.2010.06.005

Article  PubMed  PubMed Central  CAS  Google Scholar 

Montgomery MK, Turner N (2015) Mitochondrial dysfunction and insulin resistance: an update. Endocr Connect 4(1):R1–R15. https://doi.org/10.1530/EC-14-0092

Article  PubMed  CAS  Google Scholar 

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