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Paragangliomas 7(PGL7)

MedGen UID:
1673088
Concept ID:
C5193116
Neoplastic Process
Synonym: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7
 
Gene (location): DLST (14q24.3)
 
Monarch Initiative: MONDO:0032771
OMIM®: 618475

Definition

Pheochromocytoma/paraganglioma syndrome-7 (PPGL7) is an autosomal dominant tumor predisposition syndrome in which affected individuals develop adult-onset neuroendocrine neoplasms, known as paragangliomas. Most tumors arise in the abdomen, secrete normetanephrine, and follow a benign disease course (summary by Remacha et al., 2019). 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.
Pheochromocytoma
MedGen UID:
18419
Concept ID:
C0031511
Neoplastic Process
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas cause catecholamine excess; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base and neck (referred to as head and neck PGL [HNPGL]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, sympathetic extra-adrenal paragangliomas are generally confined to the lower mediastinum, abdomen, and pelvis, and are typically secretory. Pheochromocytomas, which arise from the adrenal medulla, typically lead to catecholamine excess. Symptoms of PGL/PCC result from either mass effects or catecholamine hypersecretion (e.g., sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, forceful palpitations, pallor, and apprehension or anxiety). The risk for developing metastatic disease is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas.

Professional guidelines

PubMed

Pucci A, Bacca A, Barravecchia I, Di Stefano I, Belgio B, Lorenzini D, Torregrossa L, Chiacchio S, Congregati C, Materazzi G, Ferrari M, Angeloni D, Bernini G, Basolo F
Head Neck Pathol 2022 Dec;16(4):998-1011. Epub 2022 May 7 doi: 10.1007/s12105-022-01455-4. PMID: 35524772Free PMC Article

Recent clinical studies

Etiology

Contrera KJ, Yong V, Reddy CA, Liu SW, Lorenz RR
Otolaryngol Head Neck Surg 2020 Apr;162(4):504-511. Epub 2020 Feb 18 doi: 10.1177/0194599820902702. PMID: 32066331
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER
J Med Genet 2018 Jun;55(6):384-394. Epub 2018 Jan 31 doi: 10.1136/jmedgenet-2017-105127. PMID: 29386252Free 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
Thompson LD
Am J Surg Pathol 2002 May;26(5):551-66. doi: 10.1097/00000478-200205000-00002. PMID: 11979086

Diagnosis

Wiseman D, Lakis ME, Nilubol N
Horm Metab Res 2019 Jul;51(7):470-482. Epub 2019 Jul 15 doi: 10.1055/a-0926-3618. PMID: 31307109Free PMC Article
Khurana A, Mei L, Faber AC, Smith SC, Boikos SA
Horm Metab Res 2019 Jul;51(7):437-442. Epub 2019 Jun 7 doi: 10.1055/a-0918-8340. PMID: 31174229
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
Guichard JP, Fakhry N, Franc J, Herman P, Righini CA, Taieb D
Eur Ann Otorhinolaryngol Head Neck Dis 2017 Sep;134(4):243-248. Epub 2016 Nov 23 doi: 10.1016/j.anorl.2016.10.003. PMID: 27887852
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

Jimenez C, Fazeli S, Román-Gonzalez A
Endocr Relat Cancer 2020 Jul;27(7):R239-R254. doi: 10.1530/ERC-20-0043. PMID: 32369773
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
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
Almeida MQ, Bezerra-Neto JE, Mendonça BB, Latronico AC, Fragoso MCBV
Clinics (Sao Paulo) 2018 Dec 10;73(suppl 1):e756s. doi: 10.6061/clinics/2018/e756s. PMID: 30540124Free PMC Article
Favia G, Lumachi F, Carraro P, D'Amico DF
Minerva Endocrinol 1995 Mar;20(1):95-9. PMID: 7651289

Prognosis

Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER
J Med Genet 2018 Jun;55(6):384-394. Epub 2018 Jan 31 doi: 10.1136/jmedgenet-2017-105127. PMID: 29386252Free 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
Lv G, Lu L, Dai Z
Turk Neurosurg 2017;27(3):401-407. doi: 10.5137/1019-5149.JTN.16276-15.1. PMID: 27593782
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
Thompson LD
Am J Surg Pathol 2002 May;26(5):551-66. doi: 10.1097/00000478-200205000-00002. PMID: 11979086

Clinical prediction guides

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
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER
J Med Genet 2018 Jun;55(6):384-394. Epub 2018 Jan 31 doi: 10.1136/jmedgenet-2017-105127. PMID: 29386252Free 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
Thompson LD
Am J Surg Pathol 2002 May;26(5):551-66. doi: 10.1097/00000478-200205000-00002. PMID: 11979086

Recent systematic reviews

Campbell JC, Lee JW, Ledbetter L, Wick CC, Riska KM, Cunningham CD, Russomando AC, Truong T, Hong H, Kuchibhatla M, Kaylie DM
Otol Neurotol 2023 Mar 1;44(3):195-200. Epub 2022 Dec 31 doi: 10.1097/MAO.0000000000003781. PMID: 36728610
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
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
Guichard JP, Fakhry N, Franc J, Herman P, Righini CA, Taieb D
Eur Ann Otorhinolaryngol Head Neck Dis 2017 Sep;134(4):243-248. Epub 2016 Nov 23 doi: 10.1016/j.anorl.2016.10.003. PMID: 27887852

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