U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Show allHide all

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
Bladder Preservation for Patients With Bladder Paragangliomas: Case Series and Review of the Literature.
Wang EY, Pak JS, Virk RK, Anderson CB, Healy KA, Lee JA, Benson MC, McKiernan JM
Urology 2020 Sep;143:194-205. Epub 2020 May 11 doi: 10.1016/j.urology.2020.04.098. PMID: 32437773
New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma.
Taïeb D, Pacak K
Trends Endocrinol Metab 2017 Nov;28(11):807-817. Epub 2017 Aug 31 doi: 10.1016/j.tem.2017.08.001. PMID: 28867159Free 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

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

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
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
Unforgettable patients.
Smith DS
J Pediatr 1992 Dec;121(6):986-8. doi: 10.1016/s0022-3476(05)80358-0. PMID: 1447673
Phaeochromocytoma.
Engelman K
Clin Endocrinol Metab 1977 Nov;6(3):769-97. doi: 10.1016/s0300-595x(77)80079-0. PMID: 22415
Propranolol.
Morrelli HF
Ann Intern Med 1973 Jun;78(6):913-7. doi: 10.7326/0003-4819-78-6-913. PMID: 4576657

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
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
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

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
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
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

Recent systematic reviews

Prevalence of Functioning Adrenal Incidentalomas: A Systematic Review and Meta-analysis.
Sconfienza E, Tetti M, Forestiero V, Veglio F, Mulatero P, Monticone S
J Clin Endocrinol Metab 2023 Jun 16;108(7):1813-1823. doi: 10.1210/clinem/dgad044. PMID: 36718682
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
Pregnancy and phaeochromocytoma/paraganglioma: clinical clues affecting diagnosis and outcome - a systematic review.
Langton K, Tufton N, Akker S, Deinum J, Eisenhofer G, Timmers H, Spaanderman M, Lenders J
BJOG 2021 Jul;128(8):1264-1272. Epub 2021 Jan 25 doi: 10.1111/1471-0528.16635. PMID: 33342020
Genotype-phenotype correlations in pheochromocytoma and paraganglioma: a systematic review and individual patient meta-analysis.
Crona J, Lamarca A, Ghosal S, Welin S, Skogseid B, Pacak K
Endocr Relat Cancer 2019 May;26(5):539-550. doi: 10.1530/ERC-19-0024. PMID: 30893643Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity