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Paragangliomas 6(PGL6; PPGL6)

MedGen UID:
1681559
•Concept ID:
C5193112
•
Disease or Syndrome
Synonym: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 6
 
Gene (location): SLC25A11 (17p13.2)
 
Monarch Initiative: MONDO:0032767
OMIM®: 618464

Definition

Pheochromocytoma/paraganglioma syndrome-6 (PPGL6) is an autosomal dominant adult-onset tumor predisposition syndrome in which affected individuals develop neuroendocrine neoplasms, known as paragangliomas. Many tumors arise in the abdomen, although some may arise in other regions, including the head and neck. Some of the tumors may secrete biologically active normetanephrines, resulting in secondary hypertension. Tumors may be benign or malignant, and some may metastasize (summary by Buffet et al., 2018). For a discussion of genetic heterogeneity of pheochromocytoma/paraganglioma syndrome, see PPGL1 (168000). [from OMIM]

Clinical features

From HPO
Paraganglioma
MedGen UID:
10571
•Concept ID:
C0030421
•
Neoplastic Process
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
See: Feature record | Search on this feature
Hypertensive disorder
MedGen UID:
6969
•Concept ID:
C0020538
•
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
See: Feature record | Search on this feature
Elevated circulating catecholamine level
MedGen UID:
871156
•Concept ID:
C4025629
•
Finding
An abnormal increase in catecholamine concentration in the blood.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Management of gastric and duodenal neuroendocrine tumors.
Sato Y, Hashimoto S, Mizuno K, Takeuchi M, Terai S
World J Gastroenterol 2016 Aug 14;22(30):6817-28. doi: 10.3748/wjg.v22.i30.6817. PMID: 27570419Free PMC Article
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society
J Clin Endocrinol Metab 2014 Jun;99(6):1915-42. doi: 10.1210/jc.2014-1498. PMID: 24893135

Recent clinical studies

Etiology

Paraganglioma of the Head and Neck: A Review.
Sandow L, Thawani R, Kim MS, Heinrich MC
Endocr Pract 2023 Feb;29(2):141-147. Epub 2022 Oct 15 doi: 10.1016/j.eprac.2022.10.002. PMID: 36252779Free PMC Article
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
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society
J Clin Endocrinol Metab 2014 Jun;99(6):1915-42. doi: 10.1210/jc.2014-1498. PMID: 24893135
Genetics of hereditary head and neck paragangliomas.
Boedeker CC, Hensen EF, Neumann HP, Maier W, van Nederveen FH, Suárez C, Kunst HP, Rodrigo JP, Takes RP, Pellitteri PK, Rinaldo A, Ferlito A
Head Neck 2014 Jun;36(6):907-16. Epub 2013 Nov 30 doi: 10.1002/hed.23436. PMID: 23913591
Pheochromocytoma.
Pederson LC, Lee JE
Curr Treat Options Oncol 2003 Aug;4(4):329-37. doi: 10.1007/s11864-003-0008-9. PMID: 12943613

Diagnosis

Paraganglioma of the Head and Neck: A Review.
Sandow L, Thawani R, Kim MS, Heinrich MC
Endocr Pract 2023 Feb;29(2):141-147. Epub 2022 Oct 15 doi: 10.1016/j.eprac.2022.10.002. PMID: 36252779Free PMC Article
Imaging of Pheochromocytoma and Paraganglioma.
Carrasquillo JA, Chen CC, Jha A, Ling A, Lin FI, Pryma DA, Pacak K
J Nucl Med 2021 Aug 1;62(8):1033-1042. doi: 10.2967/jnumed.120.259689. PMID: 34330739Free PMC Article
Pheochromocytomas and Paragangliomas.
Tevosian SG, Ghayee HK
Endocrinol Metab Clin North Am 2019 Dec;48(4):727-750. doi: 10.1016/j.ecl.2019.08.006. PMID: 31655773
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo AP, Grebe SK, Murad MH, Naruse M, Pacak K, Young WF Jr; Endocrine Society
J Clin Endocrinol Metab 2014 Jun;99(6):1915-42. doi: 10.1210/jc.2014-1498. PMID: 24893135
Aorticopulmonary paraganglioma.
Hato T, Kaseda K, Harada M, Horio H
Gen Thorac Cardiovasc Surg 2011 Dec;59(12):812-4. Epub 2011 Dec 16 doi: 10.1007/s11748-010-0769-6. PMID: 22173680

Therapy

Pheochromocytoma. Preoperative approach.
Araujo-Castro M
Med Clin (Barc) 2024 Sep 27;163(6):294-300. Epub 2024 Jun 6 doi: 10.1016/j.medcli.2024.03.025. PMID: 38849272
Efficacy of α-Blockers on Hemodynamic Control during Pheochromocytoma Resection: A Randomized Controlled Trial.
Buitenwerf E, Osinga TE, Timmers HJLM, Lenders JWM, Feelders RA, Eekhoff EMW, Haak HR, Corssmit EPM, Bisschop PHLT, Valk GD, Veldman RG, Dullaart RPF, Links TP, Voogd MF, Wietasch GJKG, Kerstens MN
J Clin Endocrinol Metab 2020 Jul 1;105(7):2381-91. doi: 10.1210/clinem/dgz188. PMID: 31714582Free PMC Article
Genetic and molecular aspects of hypertension.
Padmanabhan S, Caulfield M, Dominiczak AF
Circ Res 2015 Mar 13;116(6):937-59. doi: 10.1161/CIRCRESAHA.116.303647. PMID: 25767282
Preoperative tumor embolization.
Ashour R, Aziz-Sultan A
Neurosurg Clin N Am 2014 Jul;25(3):607-17. Epub 2014 May 20 doi: 10.1016/j.nec.2014.04.015. PMID: 24994094
Phaeochromocytoma.
Engelman K
Clin Endocrinol Metab 1977 Nov;6(3):769-97. doi: 10.1016/s0300-595x(77)80079-0. PMID: 22415

Prognosis

Paraganglioma of the Head and Neck: A Review.
Sandow L, Thawani R, Kim MS, Heinrich MC
Endocr Pract 2023 Feb;29(2):141-147. Epub 2022 Oct 15 doi: 10.1016/j.eprac.2022.10.002. PMID: 36252779Free PMC Article
Pheochromocytoma: Gasping for Air.
Jochmanová I, Zhuang Z, Pacak K
Horm Cancer 2015 Dec;6(5-6):191-205. Epub 2015 Jul 3 doi: 10.1007/s12672-015-0231-4. PMID: 26138106Free PMC Article
Cardiac paraganglioma.
Yadav PK, Baquero GA, Malysz J, Kelleman J, Gilchrist IC
Circ Cardiovasc Interv 2014 Dec;7(6):851-6. doi: 10.1161/CIRCINTERVENTIONS.114.001856. PMID: 25516760
Secondary hypertension: the ways of management.
Rossi GP, Seccia TM, Pessina AC
Curr Vasc Pharmacol 2010 Nov;8(6):753-68. doi: 10.2174/157016110793563843. PMID: 20626342
Radiation therapy of carotid body tumors.
Valdagni R, Amichetti M
Am J Clin Oncol 1990 Feb;13(1):45-8. doi: 10.1097/00000421-199002000-00013. PMID: 2154923

Clinical prediction guides

Paraganglioma of the Head and Neck: A Review.
Sandow L, Thawani R, Kim MS, Heinrich MC
Endocr Pract 2023 Feb;29(2):141-147. Epub 2022 Oct 15 doi: 10.1016/j.eprac.2022.10.002. PMID: 36252779Free PMC Article
Practice Recommendations for Diagnosis and Treatment of the Most Common Forms of Secondary Hypertension.
Rossi GP, Bisogni V, Rossitto G, Maiolino G, Cesari M, Zhu R, Seccia TM
High Blood Press Cardiovasc Prev 2020 Dec;27(6):547-560. Epub 2020 Nov 7 doi: 10.1007/s40292-020-00415-9. PMID: 33159664Free PMC Article
Cardiac paraganglioma.
Yadav PK, Baquero GA, Malysz J, Kelleman J, Gilchrist IC
Circ Cardiovasc Interv 2014 Dec;7(6):851-6. doi: 10.1161/CIRCINTERVENTIONS.114.001856. PMID: 25516760
Radiation therapy of carotid body tumors.
Valdagni R, Amichetti M
Am J Clin Oncol 1990 Feb;13(1):45-8. doi: 10.1097/00000421-199002000-00013. PMID: 2154923
Familial pheochromocytoma.
Irvin GL 3rd, Fishman LM, Sher JA
Surgery 1983 Dec;94(6):938-40. PMID: 6648808

Recent systematic reviews

Outcomes of SDHB Pathogenic Variant Carriers.
Davidoff DF, De Abreu Lourenco R, Tsang VHM, Benn DE, Clifton-Bligh RJ
J Clin Endocrinol Metab 2024 Aug 13;109(9):2400-2410. doi: 10.1210/clinem/dgae233. PMID: 38605204Free PMC Article
Modern Management of Complex Tympanojugular Paragangliomas: Systematic Review and Meta-Analysis.
Dharnipragada R, Butterfield JT, Dhawan S, Adams ME, Venteicher AS
World Neurosurg 2023 Feb;170:149-156.e3. Epub 2022 Nov 16 doi: 10.1016/j.wneu.2022.11.037. PMID: 36400356
Laparoscopic adrenalectomy (LA) vs open adrenalectomy (OA) for pheochromocytoma (PHEO): A systematic review and meta-analysis.
Li J, Wang Y, Chang X, Han Z
Eur J Surg Oncol 2020 Jun;46(6):991-998. Epub 2020 Feb 17 doi: 10.1016/j.ejso.2020.02.009. PMID: 32102743
Characteristics and management of sinonasal paragangliomas: a systematic review.
Nguyen BK, Patel NM, Arianpour K, Svider PF, Folbe AJ, Hsueh WD, Eloy JA
Int Forum Allergy Rhinol 2019 Apr;9(4):413-426. Epub 2018 Dec 20 doi: 10.1002/alr.22261. PMID: 30570216
Outcomes of patients with metastatic phaeochromocytoma and paraganglioma: A systematic review and meta-analysis.
Hamidi O, Young WF Jr, Gruber L, Smestad J, Yan Q, Ponce OJ, Prokop L, Murad MH, Bancos I
Clin Endocrinol (Oxf) 2017 Nov;87(5):440-450. Epub 2017 Aug 17 doi: 10.1111/cen.13434. PMID: 28746746Free PMC Article

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