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Hereditary Paraganglioma

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

Definition

A hereditary neoplasm arising from paraganglia. The majority of cases (up to 80%) are multifocal. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes. [from NCI]

Professional guidelines

PubMed

Current management of succinate dehydrogenase-deficient gastrointestinal stromal tumors.
Neppala P, Banerjee S, Fanta PT, Yerba M, Porras KA, Burgoyne AM, Sicklick JK
Cancer Metastasis Rev 2019 Sep;38(3):525-535. doi: 10.1007/s10555-019-09818-0. PMID: 31773431Free PMC Article
Genetic testing by cancer site: urinary tract.
Chan-Smutko G
Cancer J 2012 Jul-Aug;18(4):343-9. doi: 10.1097/PPO.0b013e31826246ac. PMID: 22846736
A decade (2001-2010) of genetic testing for pheochromocytoma and paraganglioma.
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

Surgical approaches and results of treatment for hereditary paragangliomas.
Iacobone M, Belluzzi A, Torresan F
Best Pract Res Clin Endocrinol Metab 2019 Oct;33(5):101298. Epub 2019 Jul 27 doi: 10.1016/j.beem.2019.101298. PMID: 31401056
Whole-body magnetic resonance imaging (WB-MRI) in oncology: recommendations and key uses.
Petralia G, Padhani AR, Pricolo P, Zugni F, Martinetti M, Summers PE, Grazioli L, Colagrande S, Giovagnoni A, Bellomi M; Italian Working Group on Magnetic Resonance
Radiol Med 2019 Mar;124(3):218-233. Epub 2018 Nov 14 doi: 10.1007/s11547-018-0955-7. PMID: 30430385
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
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
The role of complex II in disease.
Hoekstra AS, Bayley JP
Biochim Biophys Acta 2013 May;1827(5):543-51. Epub 2012 Nov 20 doi: 10.1016/j.bbabio.2012.11.005. PMID: 23174333
The genetics of paragangliomas.
Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP
Eur Ann Otorhinolaryngol Head Neck Dis 2012 Dec;129(6):315-8. Epub 2012 Oct 15 doi: 10.1016/j.anorl.2012.04.007. PMID: 23078982

Diagnosis

Surgical approaches and results of treatment for hereditary paragangliomas.
Iacobone M, Belluzzi A, Torresan F
Best Pract Res Clin Endocrinol Metab 2019 Oct;33(5):101298. Epub 2019 Jul 27 doi: 10.1016/j.beem.2019.101298. PMID: 31401056
Von Hippel-Lindau and Hereditary Pheochromocytoma/Paraganglioma Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.
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
Genetic predisposition to endocrine tumors: Diagnosis, surveillance and challenges in care.
Petr EJ, Else T
Semin Oncol 2016 Oct;43(5):582-590. Epub 2016 Sep 21 doi: 10.1053/j.seminoncol.2016.08.007. PMID: 27899191
The genetics of paragangliomas.
Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP
Eur Ann Otorhinolaryngol Head Neck Dis 2012 Dec;129(6):315-8. Epub 2012 Oct 15 doi: 10.1016/j.anorl.2012.04.007. PMID: 23078982
Paragangliomas: clinical overview.
Young WF Jr
Ann N Y Acad Sci 2006 Aug;1073:21-9. doi: 10.1196/annals.1353.002. PMID: 17102068

Therapy

Surgical approaches and results of treatment for hereditary paragangliomas.
Iacobone M, Belluzzi A, Torresan F
Best Pract Res Clin Endocrinol Metab 2019 Oct;33(5):101298. Epub 2019 Jul 27 doi: 10.1016/j.beem.2019.101298. PMID: 31401056
Combined Treatment With 131I-MIBG and Sunitinib Induces Remission in a Patient With Metastatic Paraganglioma Due to Hereditary Paraganglioma-Pheochromocytoma Syndrome From an SDHB Mutation.
Makis W, McCann K, McEwan AJ, Sawyer MB
Clin Nucl Med 2016 Mar;41(3):204-6. doi: 10.1097/RLU.0000000000000973. PMID: 26359568
Palliation of Extensive Metastatic Bone Disease With 223Ra-Dichloride α-Particle Therapy in a Patient With Malignant Hereditary Paraganglioma-Pheochromocytoma Syndrome With SDHB Mutation.
Makis W, McCann K, McEwan AJ, Sawyer MB
Clin Nucl Med 2016 Feb;41(2):144-7. doi: 10.1097/RLU.0000000000000964. PMID: 26359562
Multiple paraganglioma syndrome type 4 due to succinate dehydrogenase B mutation: diagnostic and therapeutic challenges of a skull base paraganglioma masquerading as nasopharyngeal cancer.
Alzahrani AS, Alshaikh O, Faiyaz-Ul-Haque M, Abalkhail H, Al-Dayel F, Hindi HA
Endocr Pract 2010 May-Jun;16(3):452-8. doi: 10.4158/EP09315.CR. PMID: 20061288

Prognosis

Paraaortic Extra-Adrenal Paraganglioma: Challenging Robotic Resection.
Nikiforchin A, Baron E, Wernberg JA, Sharma R
Ann Surg Oncol 2024 Jul;31(7):4197-4198. Epub 2024 Apr 13 doi: 10.1245/s10434-024-15267-z. PMID: 38615151
Hereditary paraganglioma presenting with atypical symptoms: Case report.
Eguchi S, Ono R, Sato T, Yada K, Umehara N, Narumi S, Ichihashi Y, Nozaki T, Kanomata N, Hasegawa T, Ozawa M, Hasegawa D
Medicine (Baltimore) 2021 Nov 19;100(46):e27888. doi: 10.1097/MD.0000000000027888. PMID: 34797335Free PMC Article
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Udager AM, Magers MJ, Goerke DM, Vinco ML, Siddiqui J, Cao X, Lucas DR, Myers JL, Chinnaiyan AM, McHugh JB, Giordano TJ, Else T, Mehra R
Hum Pathol 2018 Jan;71:47-54. Epub 2017 Oct 24 doi: 10.1016/j.humpath.2017.10.013. PMID: 29079178
The genetics of paragangliomas.
Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP
Eur Ann Otorhinolaryngol Head Neck Dis 2012 Dec;129(6):315-8. Epub 2012 Oct 15 doi: 10.1016/j.anorl.2012.04.007. PMID: 23078982
New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas.
Bertherat J, Gimenez-Roqueplo AP
Horm Metab Res 2005 Jun;37(6):384-90. doi: 10.1055/s-2005-870156. PMID: 16001332

Clinical prediction guides

Tumor detection rates in screening of individuals with SDHx-related hereditary paraganglioma-pheochromocytoma syndrome.
Greenberg SE, Jacobs MF, Wachtel H, Anson A, Buchmann L, Cohen DL, Bonanni M, Bennett B, Naumer A, Schaefer AM, Kohlmann W, Nathanson KL, Else T, Fishbein L
Genet Med 2020 Dec;22(12):2101-2107. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0921-3. PMID: 32741965Free PMC Article
The utility of SDHB and FH immunohistochemistry in patients evaluated for hereditary paraganglioma-pheochromocytoma syndromes.
Udager AM, Magers MJ, Goerke DM, Vinco ML, Siddiqui J, Cao X, Lucas DR, Myers JL, Chinnaiyan AM, McHugh JB, Giordano TJ, Else T, Mehra R
Hum Pathol 2018 Jan;71:47-54. Epub 2017 Oct 24 doi: 10.1016/j.humpath.2017.10.013. PMID: 29079178
15 YEARS OF PARAGANGLIOMA: Pheochromocytoma, paraganglioma and genetic syndromes: a historical perspective.
Else T
Endocr Relat Cancer 2015 Aug;22(4):T147-59. doi: 10.1530/ERC-15-0221. PMID: 26273101
The genetics of paragangliomas.
Burnichon N, Abermil N, Buffet A, Favier J, Gimenez-Roqueplo AP
Eur Ann Otorhinolaryngol Head Neck Dis 2012 Dec;129(6):315-8. Epub 2012 Oct 15 doi: 10.1016/j.anorl.2012.04.007. PMID: 23078982
New insights in the genetics of adrenocortical tumors, pheochromocytomas and paragangliomas.
Bertherat J, Gimenez-Roqueplo AP
Horm Metab Res 2005 Jun;37(6):384-90. doi: 10.1055/s-2005-870156. PMID: 16001332

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