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Familial Paraganglioma

MedGen UID:
234344
•Concept ID:
C1333993
•
Neoplastic Process
Synonyms: Hereditary Paraganglioma; SDH-Related Familial Paraganglioma

Definition

A familial neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. It is caused by mutations in SDHB, SDHC, and SDHD genes. [from NCI]

Professional guidelines

PubMed

Molecular genetics of paragangliomas of the skull base and head and neck region: implications for medical and surgical management.
Hussain I, Husain Q, Baredes S, Eloy JA, Jyung RW, Liu JK
J Neurosurg 2014 Feb;120(2):321-30. Epub 2013 Nov 15 doi: 10.3171/2013.10.JNS13659. PMID: 24236653
Familial paraganglioma syndrome: applying genetic screening in otolaryngology.
Dziegielewski PT, Knox A, Liu R, Hung RW, Harris J
J Otolaryngol Head Neck Surg 2010 Dec;39(6):646-53. PMID: 21144359
Detection and treatment of pheochromocytomas and paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging.
Havekes B, Lai EW, Corssmit EP, Romijn JA, Timmers HJ, Pacak K
Q J Nucl Med Mol Imaging 2008 Dec;52(4):419-29. PMID: 19088695

Recent clinical studies

Etiology

Adrenal pheochromocytoma: Keys to radiologic diagnosis.
Corral de la Calle MA, Encinas de la Iglesia J, Fernández-Pérez GC, Repollés Cobaleda M, Fraino A
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002. PMID: 36030082
Renal cancer in von Hippel-Lindau disease and related syndromes.
Bausch B, Jilg C, Gläsker S, Vortmeyer A, Lützen N, Anton A, Eng C, Neumann HP
Nat Rev Nephrol 2013 Sep;9(9):529-38. Epub 2013 Jul 30 doi: 10.1038/nrneph.2013.144. PMID: 23897319
Multiple endocrine neoplasia syndromes.
Callender GG, Rich TA, Perrier ND
Surg Clin North Am 2008 Aug;88(4):863-95, viii. doi: 10.1016/j.suc.2008.05.001. PMID: 18672144
Familial paraganglioma.
Işik AC, Erem C, Imamoğlu M, Cinel A, Sari A, Maral G
Eur Arch Otorhinolaryngol 2006 Jan;263(1):23-31. Epub 2005 Nov 30 doi: 10.1007/s00405-004-0885-y. PMID: 16320027
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad.
Carney JA, Stratakis CA
Am J Med Genet 2002 Mar 1;108(2):132-9. doi: 10.1002/ajmg.10235. PMID: 11857563

Diagnosis

Pheochromocytoma and paraganglioma in children and adolescents.
Stachowicz-Stencel T, Pasikowska N, Synakiewicz A
Acta Biochim Pol 2023 Sep 17;70(3):487-493. doi: 10.18388/abp.2020_6955. PMID: 37717273
Adrenal pheochromocytoma: Keys to radiologic diagnosis.
Corral de la Calle MA, Encinas de la Iglesia J, Fernández-Pérez GC, Repollés Cobaleda M, Fraino A
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002. PMID: 36030082
Multiple endocrine neoplasia syndromes.
Callender GG, Rich TA, Perrier ND
Surg Clin North Am 2008 Aug;88(4):863-95, viii. doi: 10.1016/j.suc.2008.05.001. PMID: 18672144
Paragangliomas: clinical overview.
Young WF Jr
Ann N Y Acad Sci 2006 Aug;1073:21-9. doi: 10.1196/annals.1353.002. PMID: 17102068
Familial paraganglioma.
Işik AC, Erem C, Imamoğlu M, Cinel A, Sari A, Maral G
Eur Arch Otorhinolaryngol 2006 Jan;263(1):23-31. Epub 2005 Nov 30 doi: 10.1007/s00405-004-0885-y. PMID: 16320027

Therapy

Management of carotid body tumors and familial paragangliomas: review of 30 years' experience.
Unlü Y, Becit N, Ceviz M, Koçak H
Ann Vasc Surg 2009 Sep-Oct;23(5):616-20. doi: 10.1016/j.avsg.2009.06.014. PMID: 19747612
Detection and treatment of pheochromocytomas and paragangliomas: current standing of MIBG scintigraphy and future role of PET imaging.
Havekes B, Lai EW, Corssmit EP, Romijn JA, Timmers HJ, Pacak K
Q J Nucl Med Mol Imaging 2008 Dec;52(4):419-29. PMID: 19088695
Surgical management of hereditary pheochromocytoma.
Yip L, Lee JE, Shapiro SE, Waguespack SG, Sherman SI, Hoff AO, Gagel RF, Arens JF, Evans DB
J Am Coll Surg 2004 Apr;198(4):525-34; discussion 534-5. doi: 10.1016/j.jamcollsurg.2003.12.001. PMID: 15051000
The diagnosis and treatment of baroreflex failure.
Robertson D, Hollister AS, Biaggioni I, Netterville JL, Mosqueda-Garcia R, Robertson RM
N Engl J Med 1993 Nov 11;329(20):1449-55. doi: 10.1056/NEJM199311113292003. PMID: 8413455

Prognosis

Renal cancer in von Hippel-Lindau disease and related syndromes.
Bausch B, Jilg C, Gläsker S, Vortmeyer A, Lützen N, Anton A, Eng C, Neumann HP
Nat Rev Nephrol 2013 Sep;9(9):529-38. Epub 2013 Jul 30 doi: 10.1038/nrneph.2013.144. PMID: 23897319
Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers.
Srirangalingam U, Walker L, Khoo B, MacDonald F, Gardner D, Wilkin TJ, Skelly RH, George E, Spooner D, Monson JP, Grossman AB, Akker SA, Pollard PJ, Plowman N, Avril N, Berney DM, Burrin JM, Reznek RH, Kumar VK, Maher ER, Chew SL
Clin Endocrinol (Oxf) 2008 Oct;69(4):587-96. Epub 2008 Apr 14 doi: 10.1111/j.1365-2265.2008.03274.x. PMID: 18419787
Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad.
Carney JA, Stratakis CA
Am J Med Genet 2002 Mar 1;108(2):132-9. doi: 10.1002/ajmg.10235. PMID: 11857563
Familial paraganglioma.
Murphy GF, Miller SD, Kenady DE, O'Connor W, Wood DP, McRoberts JW, Gee WF
Urology 1994 Aug;44(2):273-7. doi: 10.1016/s0090-4295(94)80150-9. PMID: 8048207
Familial paragangliomas of the head and neck.
McCaffrey TV, Meyer FB, Michels VV, Piepgras DG, Marion MS
Arch Otolaryngol Head Neck Surg 1994 Nov;120(11):1211-6. doi: 10.1001/archotol.1994.01880350023005. PMID: 7917204

Clinical prediction guides

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.
Koenighofer M, Parzefall T, Frohne A, Frei E, Schoefer C, Laccone F, Feil P, Frei K, Lucas T
Clin Otolaryngol 2021 Sep;46(5):1044-1049. Epub 2021 May 5 doi: 10.1111/coa.13782. PMID: 33851515Free PMC Article
The SDHB Arg230His mutation causing familial paraganglioma alters glycolysis in a new Caenorhabditis elegans model.
Saskői É, Hujber Z, Nyírő G, Likó I, Mátyási B, Petővári G, Mészáros K, Kovács AL, Patthy L, Supekar S, Fan H, Sváb G, Tretter L, Sarkar A, Nazir A, Sebestyén A, Patócs A, Mehta A, Takács-Vellai K
Dis Model Mech 2020 Oct 15;13(10) doi: 10.1242/dmm.044925. PMID: 32859697Free PMC Article
Management of carotid body tumors and familial paragangliomas: review of 30 years' experience.
Unlü Y, Becit N, Ceviz M, Koçak H
Ann Vasc Surg 2009 Sep-Oct;23(5):616-20. doi: 10.1016/j.avsg.2009.06.014. PMID: 19747612
Familial paragangliomas of the head and neck.
McCaffrey TV, Meyer FB, Michels VV, Piepgras DG, Marion MS
Arch Otolaryngol Head Neck Surg 1994 Nov;120(11):1211-6. doi: 10.1001/archotol.1994.01880350023005. PMID: 7917204
Familial risk for neuroendocrine tumors.
Anderson RJ, Lynch HT
Curr Opin Oncol 1993 Jan;5(1):75-84. PMID: 8094015

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