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Hereditary pheochromocytoma-paraganglioma

MedGen UID:
313270
Concept ID:
C1708353
Neoplastic Process
Synonyms: Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): MAX (14q23.3)
Related genes: SDHAF2, SDHD, SDHC, SDHB, SDHA
 
Monarch Initiative: MONDO:0017366
Orphanet: ORPHA29072

Disease characteristics

Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCCs result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma. [from GeneReviews]
Authors:
Tobias Else  |  Samantha Greenberg  |  Lauren Fishbein   view full author information

Professional guidelines

PubMed

Pilarski R, Nagy R
Cancer J 2012 Jul-Aug;18(4):364-71. doi: 10.1097/PPO.0b013e3182609458. PMID: 22846739
Chan-Smutko G
Cancer J 2012 Jul-Aug;18(4):343-9. doi: 10.1097/PPO.0b013e31826246ac. PMID: 22846736
Buffet A, Venisse A, Nau V, Roncellin I, Boccio V, Le Pottier N, Boussion M, Travers C, Simian C, Burnichon N, Abermil N, Favier J, Jeunemaitre X, Gimenez-Roqueplo AP
Horm Metab Res 2012 May;44(5):359-66. Epub 2012 Apr 19 doi: 10.1055/s-0032-1304594. PMID: 22517557

Recent clinical studies

Etiology

Lui MS, Clemente-Gutierrez U, Skefos CM, Perrier ND
Surg Oncol Clin N Am 2023 Apr;32(2):289-301. doi: 10.1016/j.soc.2022.10.006. PMID: 36925186
Cass ND, Schopper MA, Lubin JA, Fishbein L, Gubbels SP
Ann Otol Rhinol Laryngol 2020 Nov;129(11):1135-1143. Epub 2020 Jun 2 doi: 10.1177/0003489420931540. PMID: 32486832
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD
Clin Cancer Res 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. PMID: 28620007
Knie B, Plotkin M, Zschieschang P, Prasad V, Moskopp D
Nuklearmedizin 2016;55(1):34-40. Epub 2016 Jan 7 doi: 10.3413/Nukmed-0755-15-07. PMID: 26740102

Diagnosis

Hirose R, Tsurutani Y, Sugisawa C, Inoue K, Suematsu S, Nagata M, Hasegawa N, Kakuta Y, Yonamine M, Takekoshi K, Kimura N, Saito J, Nishikawa T
J Med Case Rep 2021 May 22;15(1):282. doi: 10.1186/s13256-021-02852-z. PMID: 34020699Free PMC Article
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, Nathanson KL, States LJ, Tomlinson GE, Villani A, Voss SD, Schiffman JD, Wasserman JD
Clin Cancer Res 2017 Jun 15;23(12):e68-e75. doi: 10.1158/1078-0432.CCR-17-0547. PMID: 28620007
Sugisawa C, Okada Y, Arao T, Mori H, Nishida K, Isobe K, Takekoshi K, Tanaka Y
Intern Med 2013;52(2):281-4. Epub 2013 Jan 15 doi: 10.2169/internalmedicine.52.8223. PMID: 23318864
Pilarski R, Nagy R
Cancer J 2012 Jul-Aug;18(4):364-71. doi: 10.1097/PPO.0b013e3182609458. PMID: 22846739
Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE
BMC Med Genet 2006 Jan 11;7:1. doi: 10.1186/1471-2350-7-1. PMID: 16405730Free PMC Article

Prognosis

Hirose R, Tsurutani Y, Sugisawa C, Inoue K, Suematsu S, Nagata M, Hasegawa N, Kakuta Y, Yonamine M, Takekoshi K, Kimura N, Saito J, Nishikawa T
J Med Case Rep 2021 May 22;15(1):282. doi: 10.1186/s13256-021-02852-z. PMID: 34020699Free PMC Article
Casey R, Garrahy A, Tuthill A, O'Halloran D, Joyce C, Casey MB, O'Shea P, Bell M
J Clin Endocrinol Metab 2014 Jul;99(7):E1392-6. Epub 2014 Apr 8 doi: 10.1210/jc.2013-4536. PMID: 24712571
Sugisawa C, Okada Y, Arao T, Mori H, Nishida K, Isobe K, Takekoshi K, Tanaka Y
Intern Med 2013;52(2):281-4. Epub 2013 Jan 15 doi: 10.2169/internalmedicine.52.8223. PMID: 23318864

Clinical prediction guides

Hirose R, Tsurutani Y, Sugisawa C, Inoue K, Suematsu S, Nagata M, Hasegawa N, Kakuta Y, Yonamine M, Takekoshi K, Kimura N, Saito J, Nishikawa T
J Med Case Rep 2021 May 22;15(1):282. doi: 10.1186/s13256-021-02852-z. PMID: 34020699Free PMC Article
Benn DE, Zhu Y, Andrews KA, Wilding M, Duncan EL, Dwight T, Tothill RW, Burgess J, Crook A, Gill AJ, Hicks RJ, Kim E, Luxford C, Marfan H, Richardson AL, Robinson B, Schlosberg A, Susman R, Tacon L, Trainer A, Tucker K, Maher ER, Field M, Clifton-Bligh RJ
J Med Genet 2018 Nov;55(11):729-734. Epub 2018 Sep 10 doi: 10.1136/jmedgenet-2018-105427. PMID: 30201732Free PMC Article
Casey R, Garrahy A, Tuthill A, O'Halloran D, Joyce C, Casey MB, O'Shea P, Bell M
J Clin Endocrinol Metab 2014 Jul;99(7):E1392-6. Epub 2014 Apr 8 doi: 10.1210/jc.2013-4536. PMID: 24712571

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