N. Abermil, M. Guillaud-bataille, N. Burnichon, A. Venisse, P. Manivet et al., TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma, Journal of Clinical Endocrinology and Metabolism, vol.97, pp.805-809, 2012.

K. A. Andrews, D. B. Ascher, D. Pires, D. R. Barnes, L. Vialard et al., Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD, Journal of Medical Genetics, vol.55, pp.384-394, 2018.

D. Astuti, F. Latif, A. Dallol, P. L. Dahia, F. Douglas et al., Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma, American Journal of Human Genetics, vol.69, pp.49-54, 2001.

R. D. Aufforth, P. Ramakant, S. M. Sadowski, A. Mehta, K. Trebska-mcgowan et al., Pheochromocytoma screening initiation and frequency in von Hippel-Lindau syndrome, Journal of Clinical Endocrinology and Metabolism, vol.100, pp.4498-4504, 2015.

B. Bausch, W. Borozdin, and H. P. Neumann, Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma, New England Journal of Medicine, vol.354, pp.2729-2731, 2006.

B. Bausch, W. Borozdin, V. F. Mautner, M. M. Hoffmann, D. Boehm et al., , 2007.

, Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1, Journal of Clinical Endocrinology and Metabolism, vol.92, pp.2784-2792

B. Bausch, U. Wellner, D. Bausch, F. Schiavi, M. Barontini et al., , 2014.

, Endocrine-Related Cancer, vol.21, pp.17-25

B. Bausch, F. Schiavi, Y. Ni, J. Welander, A. Patocs et al., Clinical characterization of the pheochromocytoma and paraganglioma susceptibility genes SDHA, TMEM127, MAX, and SDHAF2 for gene-informed prevention, JAMA Oncology, vol.3, pp.1204-1212, 2017.

B. Bausch, A. S. Tischler, K. W. Schmid, H. Leijon, C. Eng et al., Max schottelius: pioneer in pheochromocytoma, Journal of the Endocrine Society, vol.1, pp.957-964, 2017.

J. P. Bayley, A. E. Grimbergen, P. A. Van-bunderen, M. Van-der-wielen, H. P. Kunst et al., The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients, BMC Medical Genetics, vol.10, p.34, 2009.

J. P. Bayley, H. P. Kunst, A. Cascon, M. L. Sampietro, J. Gaal et al., SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma, Lancet Oncology, vol.11, issue.10, pp.70007-70010, 2010.
DOI : 10.1016/s1470-2045(10)70007-3

B. E. Baysal, R. E. Ferrell, J. E. Willett-brozick, E. C. Lawrence, D. Myssiorek et al., Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma, Science, vol.287, pp.848-851, 2000.

B. U. Bender, C. Eng, M. Olschewski, D. P. Berger, J. Laubenberger et al., VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality, Journal of Medical Genetics, vol.38, pp.508-514, 2001.

D. E. Benn, A. P. Gimenez-roqueplo, J. R. Reilly, J. Bertherat, J. Burgess et al., Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes, Journal of Clinical Endocrinology and Metabolism, vol.91, pp.827-836, 2006.

A. Berends, E. Buitenwerf, R. R. De-krijger, N. Veeger, and A. Van-der-horstschrivers, Links TP & Kerstens MN 2018 Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: a nationwide study and systematic review, European Journal of Internal Medicine, vol.51, pp.68-73

M. L. Binderup, M. Galanakis, E. Budtz-jorgensen, M. Kosteljanetz, and . Bisgaard-m-2017a-prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark, European Journal of Human Genetics, vol.25, pp.301-307

M. L. Binderup, A. M. Jensen, E. Budtz-jorgensen, and M. L. Bisgaard, Survival and causes of death in patients with von Hippel-Lindau disease, Journal of Medical Genetics, vol.54, pp.11-18, 2017.

I. Bourdeau, S. Grunenwald, N. Burnichon, E. Khalifa, N. Dumas et al., A SDHC founder mutation causes paragangliomas (PGLs) in the French Canadians: new insights on the SDHC-related PGL, Journal of Clinical Endocrinology and Metabolism, vol.101, pp.4710-4718, 2016.

N. Burnichon, V. Rohmer, L. Amar, P. Herman, S. Leboulleux et al., The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas, Journal of Clinical Endocrinology and Metabolism, vol.94, pp.2817-2827, 2009.

N. Burnichon, J. J. Briere, R. Libe, L. Vescovo, J. Riviere et al., SDHA is a tumor suppressor gene causing paraganglioma, Human Molecular Genetics, vol.19, pp.3011-3020, 2010.

N. Burnichon, A. Cascon, F. Schiavi, N. P. Morales, I. Comino-mendez et al., 2012 MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma, Clinical Cancer Research, vol.18, pp.2828-2837

N. Burnichon, J. M. Mazzella, D. Drui, L. Amar, J. Bertherat et al., Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma, Journal of Medical Genetics, vol.54, pp.125-133, 2017.
URL : https://hal.archives-ouvertes.fr/hal-02046528

J. A. Carrasquillo, N. Pandit-taskar, and . Chen, CC 2016 I-131 metaiodobenzylguanidine therapy of pheochromocytoma and paraganglioma, Seminars in Nuclear Medicine, vol.46, pp.203-214

A. Cascon, I. Comino-mendez, M. Curras-freixes, A. A. De-cubas, L. Contreras et al., Whole-exome sequencing identifies MDH2 as a new familial paraganglioma gene, Journal of the National Cancer Institute, vol.107, p.53, 2015.

R. Casey, A. Garrahy, A. Tuthill, D. O'halloran, J. C. Casey et al., Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation, Journal of Clinical Endocrinology and Metabolism, vol.99, pp.1392-1396, 2014.

R. T. Casey, D. B. Ascher, E. Rattenberry, L. Izatt, K. A. Andrews et al., SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity, Molecular Genetics and Genomic Medicine, vol.5, pp.237-250, 2017.

R. T. Casey, A. Y. Warren, J. E. Martin, B. G. Challis, E. Rattenberry et al., Clinical and molecular features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): case series and literature review, Journal of Clinical Endocrinology and Metabolism, vol.102, pp.4013-4022, 2017.

F. Castinetti, X. P. Qi, M. K. Walz, A. L. Maia, G. Sanso et al., Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study, Lancet Oncology, vol.15, issue.14, pp.70154-70162, 2014.

F. Castinetti, D. Taieb, J. F. Henry, M. Walz, C. Guerin et al., MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma, European Journal of Endocrinology, vol.174, pp.9-18, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01473972

F. Castinetti, A. L. Maia, M. Peczkowska, M. Barontini, K. Hasse-lazar et al., The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations, Endocrine-Related Cancer, vol.24, pp.63-67, 2017.

L. J. Castro-vega, A. Buffet, A. A. De-cubas, A. Cascon, M. Menara et al., Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas, Human Molecular Genetics, vol.23, pp.2440-2446, 2014.

G. R. Clark, M. Sciacovelli, E. Gaude, D. M. Walsh, G. Kirby et al., , 2014.

, Germline FH mutations presenting with pheochromocytoma, Journal of Clinical Endocrinology and Metabolism, vol.99, pp.2046-2050

I. Comino-mendez, F. J. Gracia-aznarez, F. Schiavi, I. Landa, L. J. Leandrogarcia et al., Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma, Nature Genetics, vol.43, pp.663-667, 2011.

J. Crona, A. D. Verdugo, D. Granberg, S. Welin, P. Stalberg et al., Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma, Endocrine Connections, vol.2, pp.104-111, 2013.

M. Curras-freixes, L. Inglada-perez, V. Mancikova, C. Montero-conde, R. Leton et al., Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients, Journal of Medical Genetics, vol.52, pp.647-656, 2015.

P. L. Dahia, K. N. Ross, M. E. Wright, C. Y. Hayashida, S. Santagata et al., A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas, PLoS Genetics, vol.1, pp.72-80, 2005.

D. Sousa, S. M. Mccabe, M. J. Wu, K. Roscioli, T. Gayevskiy et al., Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours, European Journal of Endocrinology, vol.176, pp.635-644, 2017.

K. Eijkelenkamp, T. E. Osinga, M. M. De-jong, W. J. Sluiter, R. P. Dullaart et al., Kerstens MN & van der Horst-Schrivers AN 2017 Calculating the optimal surveillance for head and neck paraganglioma in SDHB-mutation carriers, Familial Cancer, vol.16, pp.123-130

T. Else, M. L. Marvin, J. N. Everett, S. B. Gruber, H. A. Arts et al., The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3), Journal of Clinical Endocrinology and Metabolism, vol.99, pp.1482-1486, 2014.

O. Elshafie, A. Badaai, Y. Alwahaibi, K. Qureshi, A. Hussein et al., Catecholamine-secreting carotid body paraganglioma: successful preoperative control of hypertension and clinical symptoms using high-dose long-acting octreotide. Endocrinology, Diabetes and Metabolism Case Reports 2014 140051. phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis, JAMA, vol.276, pp.1575-1579, 2014.

L. Evenepoel, T. G. Papathomas, N. Krol, E. Korpershoek, and R. R. De-krijger, Persu A & Dinjens WN 2015 Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations, Genetics in Medicine, vol.17, pp.610-620

U. Fisch and D. Mattox, Microsurgery of the Skull Base, pp.149-153, 1988.

L. Fishbein, I. Leshchiner, V. Walter, L. Danilova, A. G. Robertson et al., Comprehensive molecular characterization of pheochromocytoma and paraganglioma, Cancer Cell, vol.31, pp.181-193, 2017.

F. Giammarile, A. Chiti, M. Lassmann, B. Brans, and G. Flux, EANM procedure guidelines for 131I-meta-iodobenzylguanidine (131I-mIBG) therapy, European Journal of Nuclear Medicine and Molecular Imaging, vol.35, pp.1039-1047, 2008.

L. Gieldon, J. R. Masjkur, S. Richter, R. Darr, M. Lahera et al., Next-generation panel sequencing identifies NF1 germline mutations in three patients with pheochromocytoma but no clinical diagnosis of neurofibromatosis type 1, European Journal of Endocrinology, vol.178, pp.1-9, 2018.

A. J. Gill, L. Lipton, J. Taylor, D. E. Benn, A. L. Richardson et al., Germline SDHC mutation presenting as recurrent SDH deficient GIST and renal carcinoma, Pathology, vol.45, pp.689-691, 2013.

A. J. Gill, O. Hes, T. Papathomas, M. Sedivcova, P. H. Tan et al., Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients, American Journal of Surgical Pathology, vol.38, pp.1588-1602, 2014.

O. Gimm, D. J. Marsh, S. D. Andrew, A. Frilling, P. L. Dahia et al., Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation, Journal of Clinical Endocrinology and Metabolism, vol.82, pp.3902-3904, 1997.

J. R. Gnarra, K. Tory, Y. Weng, L. Schmidt, M. H. Wei et al., Mutations of the VHL tumour suppressor gene in renal carcinoma, Nature Genetics, vol.7, pp.85-90, 1994.

H. Groeben, B. J. Nottebaum, P. F. Alesina, A. Traut, H. P. Neumann et al., Perioperative alpha-receptor blockade in phaeochromocytoma surgery: an observational case series, British Journal of Anaesthesia, vol.118, pp.182-189, 2017.

L. M. Gruber, D. Erickson, D. Babovic-vuksanovic, G. B. Thompson, W. F. Young et al., Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1, Clinical Endocrinology, vol.86, pp.141-149, 2017.

D. H. Gutmann, A. Aylsworth, J. C. Carey, B. Korf, J. Marks et al., Rubenstein A & Viskochil D 1997 The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2, JAMA, vol.278, pp.51-57

H. X. Hao, O. Khalimonchuk, M. Schraders, N. Dephoure, J. P. Bayley et al., , 2009.

, SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma, Science, vol.325, pp.1139-1142

E. F. Hensen and J. P. Bayley, Recent advances in the genetics of SDHrelated paraganglioma and pheochromocytoma, Familial Cancer, vol.10, pp.355-363, 2011.

E. F. Hensen, N. Van-duinen, J. C. Jansen, E. P. Corssmit, C. M. Tops et al., High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands, Clinical Genetics, vol.81, pp.284-288, 2012.

K. G. Hernandez, S. Ezzat, C. F. Morel, C. Swallow, M. Otremba et al., Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association, Virchows Archiv, vol.466, pp.727-732, 2015.

I. Janssen, C. C. Chen, C. M. Millo, A. Ling, D. Taieb et al., PET/CT comparing (68) Ga-DOTATATE and other radiopharmaceuticals and in comparison with CT/MRI for the localization of sporadic metastatic pheochromocytoma and paraganglioma, European Journal of Nuclear Medicine and Molecular Imaging, vol.43, pp.1784-1791, 2016.

I. Jochmanova, K. I. Wolf, K. S. King, J. Nambuba, R. Wesley et al., SDHBrelated pheochromocytoma and paraganglioma penetrance and genotype-phenotype correlations, Journal of Cancer Research and Clinical Oncology, vol.143, pp.1421-1435, 2017.

N. Kimura, R. Takayanagi, N. Takizawa, E. Itagaki, T. Katabami et al., Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma, Endocrine-Related Cancer, vol.21, pp.405-414, 2014.

N. Kimura, K. Takekoshi, A. Horii, R. Morimoto, T. Imai et al., Clinicopathological study of SDHB mutation-related pheochromocytoma and sympathetic paraganglioma, Endocrine-Related Cancer, vol.21, pp.13-16, 2014.

G. Kong, S. Grozinsky-glasberg, M. S. Hofman, J. Callahan, A. Meirovitz et al., Efficacy of peptide receptor radionuclide therapy for functional metastatic paraganglioma and pheochromocytoma, Journal of Clinical Endocrinology and Metabolism, vol.102, pp.3278-3287, 2017.

E. Korpershoek, D. Koffy, B. H. Eussen, L. Oudijk, T. G. Papathomas et al., Complex MAX rearrangement in a family with malignant pheochromocytoma, renal oncocytoma, and erythrocytosis, Journal of Clinical Endocrinology and Metabolism, vol.101, pp.453-460, 2016.

R. C. Kruizinga, W. J. Sluiter, E. G. De-vries, B. A. Zonnenberg, C. J. Lips et al., Walenkamp AM & Links TP 2014 Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations, vol.21, pp.63-71

H. P. Kunst, M. H. Rutten, J. P. De-monnink, L. H. Hoefsloot, H. J. Timmers et al., , 2011.

, SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma, Clinical Cancer Research, vol.17, pp.247-254

. H-p-neumann, Preventive medicine in genetic pheochromocytoma, vol.25

, Endocrine-Related Cancer

F. Latif, K. Tory, J. Gnarra, M. Yao, F. M. Duh et al., Identification of the von Hippel-Lindau disease tumor suppressor gene, Science, vol.260, pp.1317-1320, 1993.

J. W. Lenders, Q. Y. Duh, G. Eisenhofer, A. P. Gimenez-roqueplo, S. K. Grebe et al., Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline, Journal of Clinical Endocrinology and Metabolism, vol.99, pp.1915-1942, 2014.

E. Letouze, C. Martinelli, C. Loriot, N. Burnichon, N. Abermil et al., SDH mutations establish a hypermethylator phenotype in paraganglioma, Cancer Cell, vol.23, pp.739-752, 2013.

R. V. Lloyd, R. Osamura, G. Klöppel, J. Rosai, and . Eds, Classifiaction of Tumours of Endocrine Organs, 2017.

R. R. Lonser, G. M. Glenn, M. Walther, E. Y. Chew, S. K. Libutti et al., EH 2003 von Hippel-Lindau disease, vol.361, pp.2059-2067

A. Malinoc, M. Sullivan, T. Wiech, K. W. Schmid, C. Jilg et al., Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3, Endocrine-Related Cancer, vol.19, pp.283-290, 2012.

M. Miettinen and J. Lasota, Gastrointestinal stromal tumors, Gastroenterology Clinics of North America, vol.42, pp.399-415, 2013.

L. Mucha, G. Leidig-bruckner, K. Frank-raue, T. Bruckner, M. Kroiss et al., Phaeochromocytoma in multiple endocrine neoplasia type 2: RET codon-specific penetrance and changes in management during the last four decades, Clinical Endocrinology, vol.87, pp.320-326, 2017.

L. M. Mulligan, J. B. Kwok, C. S. Healey, M. J. Elsdon, C. Eng et al., Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A, Nature, vol.363, pp.458-460, 1993.

H. P. Neumann, . Pheochromocytoma, . In, . Jameson, . Fauci et al., Harrison's Principles of Internal Medicine, 2018.

H. P. Neumann and Z. Erlic, Maternal transmission of symptomatic disease with SDHD mutation: fact or fiction, Journal of Clinical Endocrinology and Metabolism, vol.93, pp.1573-1575, 2008.

H. P. Neumann, D. P. Berger, G. Sigmund, U. Blum, D. Schmidt et al., Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease, New England Journal of Medicine, vol.329, pp.1531-1538, 1993.

H. P. Neumann, B. Bausch, S. R. Mcwhinney, B. U. Bender, O. Gimm et al., , 2002.

, Germ-line mutations in nonsyndromic pheochromocytoma, New England Journal of Medicine, vol.346, pp.1459-1466

H. P. Neumann, C. Pawlu, M. Peczkowska, B. Bausch, S. R. Mcwhinney et al., Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations, JAMA, vol.292, pp.943-951, 2004.

S. Niemann and U. Muller, Mutations in SDHC cause autosomal dominant paraganglioma, type 3, Nature Genetics, vol.26, pp.268-270, 2000.

S. Niemann, U. Muller, D. Engelhardt, and P. Lohse, Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC, Human Genetics, vol.113, pp.92-94, 2003.

N. D. Niemeijer, J. A. Rijken, K. Eijkelenkamp, A. Van-der-horst-schrivers, M. N. Kerstens et al., The phenotype of SDHB germline mutation carriers: a nationwide study, European Journal of Endocrinology, vol.177, pp.115-125, 2017.

L. Oudijk, J. Gaal, E. Korpershoek, F. H. Van-nederveen, L. Kelly et al., SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors, Modern Pathology, vol.26, pp.456-463, 2013.

Y. Ozluk, D. Taheri, A. Matoso, O. Sanli, N. K. Berker et al., Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma, Human Pathology, vol.46, pp.1951-1955, 2015.

T. G. Papathomas, L. Oudijk, A. Persu, A. J. Gill, F. Van-nederveen et al., , 2015.

, SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T), vol.28, pp.807-821

B. Pasini, S. R. Mcwhinney, T. Bei, L. Matyakhina, S. Stergiopoulos et al., , 2008.

, Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD, European Journal of Human Genetics, vol.16, pp.79-88

A. Patocs, N. K. Lendvai, H. Butz, I. Liko, Z. Sapi et al., Novel SDHB and TMEM127 mutations in patients with pheochromocytoma/paraganglioma syndrome, Pathology and Oncology Research, vol.22, pp.673-679, 2016.

M. Peitzsch, A. Prejbisz, M. Kroiss, F. Beuschlein, W. Arlt et al., Analysis of plasma 3-methoxytyramine, normetanephrine and metanephrine by ultraperformance liquid chromatography-tandem mass spectrometry: utility for diagnosis of dopamine-producing metastatic phaeochromocytoma, Annals of Clinical Biochemistry, vol.50, pp.147-155, 2013.

L. Pick, Das Ganglioma embryonale sympathicum (Sympathoma embryonale), eine typische bösartige Geschwulstform des sympathischen Nervensystems, Berliner Klinische Wochenschrift, vol.49, pp.16-22, 1912.

Y. Qin, L. Yao, E. E. King, K. Buddavarapu, R. E. Lenci et al., Germline mutations in TMEM127 confer susceptibility to pheochromocytoma, Nature Genetics, vol.42, pp.229-233, 2010.

D. Rao, M. Peitzsch, A. Prejbisz, K. Hanus, M. Fassnacht et al., Plasma methoxytyramine: clinical utility with metanephrines for diagnosis of pheochromocytoma and paraganglioma, European Journal of Endocrinology, vol.177, pp.103-113, 2017.

E. Rattenberry, L. Vialard, A. Yeung, H. Bair, K. Mckay et al., A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma, Journal of Clinical Endocrinology and Metabolism, vol.98, pp.1248-1256, 2013.

S. T. Reeders, M. H. Breuning, K. E. Davies, R. D. Nicholls, A. P. Jarman et al., Pearson PL & Weatherall DJ 1985 A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16, Nature, vol.317, pp.542-544
DOI : 10.1038/317542a0

C. J. Ricketts, J. R. Forman, E. Rattenberry, N. Bradshaw, F. Lalloo et al., , 2010.

. H-p-neumann, Preventive medicine in genetic pheochromocytoma, vol.25

, Endocrine-Related Cancer risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD, Human Mutations, vol.31, pp.41-51

C. J. Ricketts, B. Shuch, C. D. Vocke, A. R. Metwalli, G. Bratslavsky et al., , 2012.

, Succinate dehydrogenase kidney cancer: an aggressive example of the warburg effect in cancer, Journal of Urology, vol.188, pp.2063-2071

J. A. Rijken, N. D. Niemeijer, M. A. Jonker, K. Eijkelenkamp, J. C. Jansen et al., The penetrance of paraganglioma and pheochromocytoma in SDHB germline mutation carriers, Clinical Genetics, vol.93, pp.60-66, 2018.

V. Rufini, G. Treglia, P. Castaldi, G. Perotti, and A. Giordano, Comparison of metaiodobenzylguanidine scintigraphy with positron emission tomography in the diagnostic work-up of pheochromocytoma and paraganglioma: a systematic review, Quarterly Journal of Nuclear Medicine and Molecular Imaging, vol.57, pp.122-133, 2013.

F. Schiavi, C. C. Boedeker, B. Bausch, M. Peczkowska, C. F. Gomez et al., Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene, JAMA, vol.294, pp.2057-2063, 2005.

S. Schlisio, R. S. Kenchappa, L. C. Vredeveld, R. E. George, R. Stewart et al., The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor, Genes and Development, vol.22, pp.884-893, 2008.

W. R. Shamblin, W. H. Remine, S. Sheps, and E. G. Harrison, Clinicopathologic analysis of ninety cases, American Journal of Surgery, vol.122, pp.732-739, 1971.

D. R. Siqueira, L. Ceolin, C. V. Ferreira, M. Romitti, S. C. Maia et al., Role of RET genetic variants in MEN2-associated pheochromocytoma, European Journal of Endocrinology, vol.170, pp.821-828, 2014.

C. Suarez, J. P. Rodrigo, C. C. Bodeker, J. L. Llorente, C. E. Silver et al., Jugular and vagal paragangliomas: systematic study of management with surgery and radiotherapy, Head and Neck, vol.35, pp.1195-1204, 2013.

C. Suarez, J. P. Rodrigo, W. M. Mendenhall, M. Hamoir, C. E. Silver et al., Carotid body paragangliomas: a systematic study on management with surgery and radiotherapy, European Archives of Oto-Rhino-Laryngology, vol.271, pp.23-34, 2014.

C. Suarez, V. Fernandez-alvarez, H. P. Neumann, C. C. Boedeker, C. Offergeld et al., Modern trends in the management of head and neck paragangliomas, European Archives of Oto-Rhino-Laryngology, vol.272, pp.3595-3599, 2015.

D. Taieb, H. J. Timmers, E. Hindie, B. A. Guillet, H. P. Neumann et al., EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma, vol.39, pp.1977-1995, 2012.

P. E. Taschner, J. C. Jansen, B. E. Baysal, A. Bosch, E. H. Rosenberg et al., Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene, Genes, Chromosomes and Cancer, vol.31, pp.274-281, 2001.

L. D. Thompson, Pheochromocytoma of the Adrenal gland Scaled Score (PASS) to separate benign from malignant neoplasms: a clinicopathologic and immunophenotypic study of 100 cases, 2002.

, American Journal of Surgical Pathology, vol.26, pp.551-566

S. Thosani, M. Ayala-ramirez, L. Palmer, M. I. Hu, T. Rich et al., The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2, Journal of Clinical Endocrinology and Metabolism, vol.98, pp.1813-1819, 2013.

A. S. Tischler, Pheochromocytoma and extra-adrenal paraganglioma: updates, Archives of Pathology and Laboratory Medicine, vol.132, pp.1272-1284, 2008.

, Tischler AS & deKrijger RR 2015 15 YEARS OF PARAGANGLIOMA: Pathology of pheochromocytoma and paraganglioma, vol.22, pp.123-133

S. P. Toledo, D. M. Lourenco, T. Sekiya, A. M. Lucon, M. E. Baena et al., , 2015.

, Penetrance and clinical features of pheochromocytoma in a sixgeneration family carrying a germline TMEM127 mutation, Journal of Clinical Endocrinology and Metabolism, vol.100, pp.308-318

R. A. Toledo, N. Burnichon, A. Cascon, D. E. Benn, J. P. Bayley et al., Consensus statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas, Nature Review Endocrinology, vol.13, pp.233-247, 2017.

J. Turchini, V. Cheung, A. S. Tischler, D. Krijger, R. Gill et al., ) van Baars F, Cremers C, van den Broek P, Geerts S & Veldman J 1982 Genetic aspects of nonchromaffin paraganglioma, Histopathology, vol.72, pp.305-309, 2018.

F. H. Van-nederveen, J. Gaal, J. Favier, E. Korpershoek, R. A. Oldenburg et al., An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis, Lancet Oncology, vol.10, issue.09, pp.70164-70164, 2009.

S. Vanharanta, M. Buchta, S. R. Mcwhinney, S. K. Virta, M. Peczkowska et al.,

, Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma, American Journal of Human Genetics, vol.74, pp.153-159

M. K. Walz, P. F. Alesina, F. A. Wenger, J. A. Koch, H. P. Neumann et al., Laparoscopic and retroperitoneoscopic treatment of pheochromocytomas and retroperitoneal paragangliomas: results of 161 tumors in 126 patients, World Journal of Surgery, vol.30, pp.899-908, 2006.

M. K. Walz, L. D. Iova, J. Deimel, H. Neumann, B. Bausch et al., Minimally Invasive Surgery (MIS) in children and adolescents with pheochromocytomas and retroperitoneal paragangliomas: experiences in 42 patients, World Journal of Surgery, vol.42, pp.1024-1030, 2018.

J. Welander, A. Andreasson, C. C. Juhlin, R. W. Wiseman, M. Backdahl et al., Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma, Journal of Clinical Endocrinology and Metabolism, vol.99, pp.1352-1360, 2014.

P. Xekouki and C. A. Stratakis, Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects? EndocrineRelated Cancer 19 C33-C40, 2012.

P. Xekouki, E. Szarek, P. Bullova, A. Giubellino, M. Quezado et al., , p.219

. H-p-neumann, Preventive medicine in genetic pheochromocytoma, vol.25

N. Endocrine-related-cancer-rentia, Pituitary adenoma with paraganglioma/ pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice, Journal of Clinical Endocrinology and Metabolism, vol.100, pp.710-719, 2015.

E. Yakirevich, S. M. Ali, A. Mega, C. Mcmahon, A. S. Brodsky et al., Safran H & Resnick MB 2015 A novel SDHA-deficient renal cell carcinoma revealed by comprehensive genomic profiling

, American Journal of Surgical Pathology, vol.39, pp.858-863

C. Yang, Z. Zhuang, S. M. Fliedner, U. Shankavaram, M. G. Sun et al., Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia, Journal of Molecular Medicine, vol.93, pp.93-104, 2015.

L. Yao, F. Schiavi, A. Cascon, Y. Qin, L. Inglada-perez et al., Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas, JAMA, vol.304, pp.2611-2619, 2010.

I. T. Yeh, R. E. Lenci, Y. Qin, K. Buddavarapu, A. H. Ligon et al., A germline mutation of the KIF1B beta gene on 1p36 in a family with neural and nonneural tumors, Human Genetics, vol.124, pp.279-285, 2008.

B. Zbar, T. Kishida, F. Chen, L. Schmidt, E. R. Maher et al., , 1996.

, Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, vol.8, pp.348-357, 1996.

G. Zeng, H. Feng, J. Zhao, Y. Ma, B. Huang et al., Clinical characteristics and strategy for treatment of functional carotid body tumours, International Journal of Oral and Maxillofacial Surgery, vol.42, pp.436-439, 2013.