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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
Predicting Metastatic Potential in Pheochromocytoma and Paraganglioma: A Comparison of PASS and GAPP Scoring Systems.
Wachtel H, Hutchens T, Baraban E, Schwartz LE, Montone K, Baloch Z, LiVolsi V, Krumeich L, Fraker DL, Nathanson KL, Cohen DL, Fishbein L
J Clin Endocrinol Metab 2020 Dec 1;105(12):e4661-70. doi: 10.1210/clinem/dgaa608. PMID: 32877928Free 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
Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma.
Kimura N, Takayanagi R, Takizawa N, Itagaki E, Katabami T, Kakoi N, Rakugi H, Ikeda Y, Tanabe A, Nigawara T, Ito S, Kimura I, Naruse M; Phaeochromocytoma Study Group in Japan
Endocr Relat Cancer 2014 Jun;21(3):405-14. Epub 2014 May 6 doi: 10.1530/ERC-13-0494. PMID: 24521857
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

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.
Neumann HPH, Young WF Jr, Eng C
N Engl J Med 2019 Aug 8;381(6):552-565. doi: 10.1056/NEJMra1806651. PMID: 31390501
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

Therapy

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
Glucagon-induced pheochromocytoma crisis.
Hosseinnezhad A, Black RM, Aeddula NR, Adhikari D, Trivedi N
Endocr Pract 2011 May-Jun;17(3):e51-4. doi: 10.4158/EP10388.CR. PMID: 21324811
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
Predicting Metastatic Potential in Pheochromocytoma and Paraganglioma: A Comparison of PASS and GAPP Scoring Systems.
Wachtel H, Hutchens T, Baraban E, Schwartz LE, Montone K, Baloch Z, LiVolsi V, Krumeich L, Fraker DL, Nathanson KL, Cohen DL, Fishbein L
J Clin Endocrinol Metab 2020 Dec 1;105(12):e4661-70. doi: 10.1210/clinem/dgaa608. PMID: 32877928Free 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
Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma.
Kimura N, Takayanagi R, Takizawa N, Itagaki E, Katabami T, Kakoi N, Rakugi H, Ikeda Y, Tanabe A, Nigawara T, Ito S, Kimura I, Naruse M; Phaeochromocytoma Study Group in Japan
Endocr Relat Cancer 2014 Jun;21(3):405-14. Epub 2014 May 6 doi: 10.1530/ERC-13-0494. PMID: 24521857
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

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
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group
JAMA Oncol 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. PMID: 28384794Free PMC Article
Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma.
Kimura N, Takayanagi R, Takizawa N, Itagaki E, Katabami T, Kakoi N, Rakugi H, Ikeda Y, Tanabe A, Nigawara T, Ito S, Kimura I, Naruse M; Phaeochromocytoma Study Group in Japan
Endocr Relat Cancer 2014 Jun;21(3):405-14. Epub 2014 May 6 doi: 10.1530/ERC-13-0494. PMID: 24521857
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

Recent systematic reviews

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
Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature.
Bancos I, Atkinson E, Eng C, Young WF Jr, Neumann HPH; International Pheochromocytoma and Pregnancy Study Group
Lancet Diabetes Endocrinol 2021 Jan;9(1):13-21. Epub 2020 Nov 26 doi: 10.1016/S2213-8587(20)30363-6. PMID: 33248478Free PMC Article
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
Systematic review of phaeochromocytoma in pregnancy.
Biggar MA, Lennard TW
Br J Surg 2013 Jan;100(2):182-90. Epub 2012 Nov 23 doi: 10.1002/bjs.8976. PMID: 23180595

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