Toledo RA, Burnichon N, Cascon A, Benn DE, Bayley JP, Welander J, Tops CM, Firth H, Dwight T, Ercolino T, Mannelli M, Opocher G, Clifton-Bligh R, Gimm O, Maher ER, Robledo M, Gimenez-Roqueplo AP, Dahia PL (2017) Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas. Nat Rev Endocrinol 13:233–247. https://doi.org/10.1038/nrendo.2016.185
Article CAS PubMed Google Scholar
Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 99:1915–1942. https://doi.org/10.1210/jc.2014-1498
Article CAS PubMed 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, Pacak K, Nathanson KL, Wilkerson MD (2017) Comprehensive molecular characterization of Pheochromocytoma and Paraganglioma. Cancer Cell 31:181–193. https://doi.org/10.1016/j.ccell.2017.01.001
Article CAS PubMed PubMed Central Google Scholar
Crona J, Taïeb D, Pacak K (2017) New perspectives on Pheochromocytoma and Paraganglioma: toward a molecular classification. Endocr Rev 38:489–515. https://doi.org/10.1210/er.2017-00062
Article PubMed PubMed Central 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 43:199–239. https://doi.org/10.1210/endrev/bnab019
Beilan JA, Lawton A, Hajdenberg J, Rosser CJ (2013) Pheochromocytoma of the urinary bladder: a systematic review of the contemporary literature. BMC Urol 13:22. https://doi.org/10.1186/1471-2490-13-22
Article PubMed PubMed Central Google Scholar
Martucci VL, Lorenzo ZG, Weintraub M, del Rivero J, Ling A, Merino M, Siddiqui M, Shuch B, Vourganti S, Linehan WM, Agarwal PK, Pacak K (2015) Association of urinary bladder paragangliomas with germline mutations in the SDHB and VHL genes. Urol Oncol 33:167e113–167e120. https://doi.org/10.1016/j.urolonc.2014.11.017
Giubellino A, Lara K, Martucci V, Huynh T, Agarwal P, Pacak K, Merino MJ (2015) Urinary bladder paragangliomas: how immunohistochemistry can assist to identify patients with SDHB germline and somatic mutations. Am J Surg Pathol 39:1488–1492. https://doi.org/10.1097/pas.0000000000000534
Article PubMed PubMed Central Google Scholar
Srirangalingam U, Banerjee A, Patki P, Peters J, George E, Chew SL, Kumar VKA, Korbonits M, Waterhouse M, Druce MR, Sahdev A, Drake WM, Akker SA (2017) Succinate dehydrogenase B (SDHB)-Associated bladder paragangliomas. Clin Genitourin Cancer 15:e131–e136. https://doi.org/10.1016/j.clgc.2016.06.006
Yu K, Ebbehøj AL, Obeid H, Vaidya A, Else T, Wachtel H, Main AM, Søndergaard E, Lehmann Christensen L, Juhlin C, Calissendorff J, Cohen DL, Bennett B, Andersen MS, Larsson C, Almeida MQ, Fishbein L, Boorjian SA, Young WF, Bancos I (2022) Presentation, management, and outcomes of urinary bladder paraganglioma: results from a Multicenter Study. J Clin Endocrinol Metab 107:2811–2821. https://doi.org/10.1210/clinem/dgac427
Article PubMed PubMed Central Google Scholar
Jiang J, Zhang J, Pang Y, Bechmann N, Li M, Monteagudo M, Calsina B, Gimenez-Roqueplo AP, Nölting S, Beuschlein F, Fassnacht M, Deutschbein T, Timmers H, Åkerström T, Crona J, Quinkler M, Fliedner SMJ, Liu Y, Guo J, Li X, Guo W, Hou Y, Wang C, Zhang L, Xiao Q, Liu L, Gao X, Burnichon N, Robledo M, Eisenhofer G (2020) Sino-european differences in the Genetic Landscape and Clinical Presentation of Pheochromocytoma and Paraganglioma. J Clin Endocrinol Metab 105. https://doi.org/10.1210/clinem/dgaa502
Pang Y, Zhang J, Jiang J, Pamporaki C, Li M, Bechmann N, Meuter L, Wei Y, Huang H, Huang S, Yu X, Robledo M, Soria MJ, Zhong D, Xu S, Timmers H, Langenhuijsen JF, Chen X, Deng W, Deutschbein T, Remde H, Wang L, Yao H, Yan B, Berends AMA, Kerstens MN, Jiang Y, Crona J, Xu N, Cai H, Wen Y, Wang A, Wu J, Zhang Z, Ning J, Cheng F, Chen X, Wang J, Xie B, Chen D, Liu Y, Liu L, Pacak K, Eisenhofer G, Lenders JWM (2024) Diagnosis and management of urinary bladder paragangliomas: a sino-american-european retrospective observational study. Clin Endocrinol (Oxf). https://doi.org/10.1111/cen.15058
Li M, He Y, Pang Y, Zhang J, Feng Y, He Y, Xu X, Wei Y, Zhong D, Deng W, Wang L, Yan B, Jiang Y, Xu N, Cai H, Wen Y, Ning J, Liu Y, Gao X, Shan Z, Liu L, Teng X, Richter S, Jiang J (2023) Somatic IDH1 hotspot variants in Chinese patients with Pheochromocytomas and Paragangliomas. J Clin Endocrinol Metab 108:1215–1223. https://doi.org/10.1210/clinem/dgac653
Eisenhofer G, Klink B, Richter S, Lenders J, W,Robledo M (2017) Metabologenomics of Phaeochromocytoma and Paraganglioma: an Integrated Approach for Personalised Biochemical and Genetic Testing. The clinical biochemist. Reviews 38:69–100
Pamporaki C, Hamplova B, Peitzsch M, Prejbisz A, Beuschlein F, Timmers H, Fassnacht M, Klink B, Lodish M, Stratakis CA, Huebner A, Fliedner S, Robledo M, Sinnott RO, Januszewicz A, Pacak K, Eisenhofer G (2017) Characteristics of Pediatric vs Adult Pheochromocytomas and Paragangliomas. J Clin Endocrinol Metab 102:1122–1132. https://doi.org/10.1210/jc.2016-3829
Article PubMed PubMed Central Google Scholar
Park S, Kang SY, Kwon GY, Kwon JE, Kim SK, Kim JY, Kim CH, Kim HJ, Moon KC, Pyo JY, Park WY, Park ES, Sung JY, Sung SH, Oh YH, Lee SE, Lee W, Lee JI, Cho NH, Jung SJ, Cho MS, Cho YM, Cho HY, Cha EJ, Chae YS, Choe G, Choi YJ, Huh J, Ro JY (2017) Clinicopathologic characteristics and Mutational Status of Succinate dehydrogenase genes in Paraganglioma of the urinary bladder: a multi-institutional Korean study. Arch Pathol Lab Med 141:671–677. https://doi.org/10.5858/arpa.2016-0403-OA
Article CAS PubMed Google Scholar
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA (2002) Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 30:406–410. https://doi.org/10.1038/ng849
Article CAS PubMed Google Scholar
Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP (2014) Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet 23:2440–2446. https://doi.org/10.1093/hmg/ddt639
Article CAS PubMed Google Scholar
Letouzé E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, Gimenez-Roqueplo AP, Favier J (2013) SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell 23:739–752. https://doi.org/10.1016/j.ccr.2013.04.018
Article CAS PubMed Google Scholar
Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouzé E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J (2018) Germline mutations in the mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a predisposition to metastatic paragangliomas. Cancer Res 78:1914–1922. https://doi.org/10.1158/0008-5472.Can-17-2463
Article CAS PubMed Google Scholar
Hald OC, Phan Y, C,Carter CJ (2022) Urinary bladder paraganglioma with a family history of neurofibromatosis type 1 treated with partial cystectomy. British journal of hospital medicine (London, England: 2005) 83:1–3. https://doi.org/10.12968/hmed.2021.0656
Behjati S, Tarpey PS, Presneau N, Scheipl S, Pillay N, Van Loo P, Wedge DC, Cooke SL, Gundem G, Davies H, Nik-Zainal S, Martin S, McLaren S, Goodie V, Robinson B, Butler A, Teague JW, Halai D, Khatri B, Myklebost O, Baumhoer D, Jundt G, Hamoudi R, Tirabosco R, Amary MF, Futreal PA, Stratton MR, Campbell PJ, Flanagan AM (2013) Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone. Nat Genet 45:1479–1482. https://doi.org/10.1038/ng.2814
Article CAS PubMed Google Scholar
Toledo RA, Qin Y, Cheng ZM, Gao Q, Iwata S, Silva GM, Prasad ML, Ocal IT, Rao S, Aronin N, Barontini M, Bruder J, Reddick RL, Chen Y, Aguiar RC, Dahia PL (2016) Recurrent mutations of chromatin-remodeling genes and kinase receptors in Pheochromocytomas and Paragangliomas. Clin cancer Research: Official J Am Association Cancer Res 22:2301–2310. https://doi.org/10.1158/1078-0432.Ccr-15-1841
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