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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.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Elevated circulating catecholamine level
MedGen UID:
871156
Concept ID:
C4025629
Finding
An abnormal increase in catecholamine concentration in the blood.

Professional guidelines

PubMed

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
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
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

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
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
Zhu B, Yan J
J Craniofac Surg 2019 Sep;30(6):e503-e506. doi: 10.1097/SCS.0000000000005408. PMID: 30896513
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
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

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

Therapy

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
Fischer A, Kloos S, Remde H, Dischinger U, Pamporaki C, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Bechmann N, Hantel C, Mohr H, Pellegata NS, Bornstein SR, Kroiss M, Auernhammer CJ, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S
Eur J Endocrinol 2023 Nov 8;189(5):546-565. doi: 10.1093/ejendo/lvad146. PMID: 37949483
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
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
Engelman K
Clin Endocrinol Metab 1977 Nov;6(3):769-97. doi: 10.1016/s0300-595x(77)80079-0. PMID: 22415

Prognosis

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
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
Koh JM, Ahn SH, Kim H, Kim BJ, Sung TY, Kim YH, Hong SJ, Song DE, Lee SH
PLoS One 2017;12(11):e0187398. Epub 2017 Nov 8 doi: 10.1371/journal.pone.0187398. PMID: 29117221Free PMC Article
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
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

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
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
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
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
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

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
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
Elliott PF, Berhane T, Ragnarsson O, Falhammar H
J Clin Endocrinol Metab 2021 Jan 23;106(2):598-608. doi: 10.1210/clinem/dgaa488. PMID: 32710791
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
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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