Format

Send to:

Choose Destination

Links from PubMed

Paraganglioma(PGL1; PGL)

MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
Synonyms: Carotid body tumors; Paragangliomas
SNOMED CT: Gangliocytic paraganglioma (72787006); Paraganglioma (803009); Neoplasm of paraganglion (127027008); Gangliocytic paraganglioma (253029009); Paraganglioma (302833002)
 
OMIM®: 168000; 602690
OMIM® Phenotypic series: PS168000
HPO: HP:0002668

Definition

A benign or malignant neoplasm arising from paraganglia located along the sympathetic or parasympathetic nerves. Infrequently, it may arise outside the usual distribution of the sympathetic and parasympathetic paraganglia. Tumors arising from the adrenal gland medulla are called pheochromocytomas. Morphologically, paragangliomas usually display a nesting (Zellballen) growth pattern. There are no reliable morphologic criteria to distinguish between benign and malignant paragangliomas. The only definitive indicator of malignancy is the presence of regional or distant metastases. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParaganglioma

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Paraganglioma and gastric stromal sarcoma
MedGen UID:
376098
Concept ID:
C1847319
Disease or Syndrome
A familial syndrome characterised by gastrointestinal stromal tumours and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localisation and the size of the tumours. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumours is inherited in an autosomal dominant manner with incomplete penetrance.
Paragangliomas 5
MedGen UID:
481622
Concept ID:
C3279992
Disease or Syndrome
Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues symmetrically distributed along the paravertebral axis from the base of the skull to the pelvis) and by pheochromocytomas (paragangliomas that are confined to the adrenal medulla). Sympathetic paragangliomas hypersecrete catecholamines; parasympathetic paragangliomas are most often nonsecretory. Extra-adrenal parasympathetic paragangliomas are located predominantly in the skull base, neck, and upper medistinum; 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 hypersecrete catecholamines. Symptoms of PGL/PCC result either from 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 malignant transformation is greater for extra-adrenal sympathetic paragangliomas than for pheochromocytomas or skull base and neck paragangliomas.

Professional guidelines

PubMed

Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K; North American Neuroendocrine Tumor Society (NANETS).
Pancreas 2010 Aug;39(6):775-83. doi: 10.1097/MPA.0b013e3181ebb4f0. PMID: 20664475Free PMC Article

Recent clinical studies

Etiology

Komada H, Hirota Y, So A, Nakamura T, Okuno Y, Fukuoka H, Iguchi G, Takahashi Y, Sakaguchi K, Ogawa W
J Clin Endocrinol Metab 2017 Sep 1;102(9):3400-3405. doi: 10.1210/jc.2017-00357. PMID: 28666346
Boot C, Toole B, Johnson SJ, Ball S, Neely D
Ann Clin Biochem 2017 Jan;54(1):143-148. Epub 2016 Sep 28 doi: 10.1177/0004563216650463. PMID: 27170024
Knie B, Plotkin M, Zschieschang P, Prasad V, Moskopp D
Nuklearmedizin 2016;55(1):34-40. Epub 2016 Jan 7 doi: 10.3413/Nukmed-0755-15-07. PMID: 26740102
von Dobschuetz E, Leijon H, Schalin-Jäntti C, Schiavi F, Brauckhoff M, Peczkowska M, Spiazzi G, Demattè S, Cecchini ME, Sartorato P, Krajewska J, Hasse-Lazar K, Roszkowska-Purska K, Taschin E, Malinoc A, Akslen LA, Arola J, Lange D, Fassina A, Pennelli G, Barbareschi M, Luettges J, Prejbisz A, Januszewicz A, Strate T, Bausch B, Castinetti F, Jarzab B, Opocher G, Eng C, Neumann HP
Endocr Relat Cancer 2015 Apr;22(2):191-204. Epub 2015 Jan 16 doi: 10.1530/ERC-14-0558. PMID: 25595276
Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y
Pediatrics 2014 Jun;133(6):e1787-91. Epub 2014 May 12 doi: 10.1542/peds.2013-2419. PMID: 24819565

Diagnosis

Sinha P, Yuen SN, Chernock RD, Haughey BH
Ann Otol Rhinol Laryngol 2017 Aug;126(8):615-618. Epub 2017 Jul 1 doi: 10.1177/0003489417717502. PMID: 28670912
Tutal E, Yılmazer D, Demirci T, Cakır E, Gültekin SS, Celep B, Topaloğlu O, Çakal E
Arch Endocrinol Metab 2017 May-Jun;61(3):291-295. Epub 2017 Feb 13 doi: 10.1590/2359-3997000000240. PMID: 28225994
Thomson N, Pacak K, Schmidt MH, Palmer CA, Salzman KL, Champine M, Schiffman JD, Cohen AL
J Neurosurg Spine 2017 Apr;26(4):501-506. Epub 2017 Jan 27 doi: 10.3171/2016.10.SPINE16948. PMID: 28128698Free PMC Article
Boot C, Toole B, Johnson SJ, Ball S, Neely D
Ann Clin Biochem 2017 Jan;54(1):143-148. Epub 2016 Sep 28 doi: 10.1177/0004563216650463. PMID: 27170024
Çetin Ş, Kir G, Yilmaz M
Diagn Cytopathol 2016 Jul;44(7):643-7. Epub 2016 May 10 doi: 10.1002/dc.23496. PMID: 27162199

Therapy

Tella SH, Taïeb D, Pacak K
Eur J Cancer 2017 Nov;86:1-4. Epub 2017 Sep 22 doi: 10.1016/j.ejca.2017.08.023. PMID: 28946040
Gillon P, Godbert Y, Dupin C, Bubien V, Italiano A, Roubaud G
Future Oncol 2014 Nov;10(14):2121-5. doi: 10.2217/fon.14.171. PMID: 25471026
Niemeijer ND, Alblas G, van Hulsteijn LT, Dekkers OM, Corssmit EP
Clin Endocrinol (Oxf) 2014 Nov;81(5):642-51. Epub 2014 Jul 30 doi: 10.1111/cen.12542. PMID: 25041164
Hadoux J, Favier J, Scoazec JY, Leboulleux S, Al Ghuzlan A, Caramella C, Déandreis D, Borget I, Loriot C, Chougnet C, Letouzé E, Young J, Amar L, Bertherat J, Libé R, Dumont F, Deschamps F, Schlumberger M, Gimenez-Roqueplo AP, Baudin E
Int J Cancer 2014 Dec 1;135(11):2711-20. Epub 2014 May 5 doi: 10.1002/ijc.28913. PMID: 24752622
Li Y, Guo A, Tang J, Li Q, Fei X, Zhang Y, Gao J
Ultrasound Med Biol 2014 Mar;40(3):478-84. Epub 2014 Jan 10 doi: 10.1016/j.ultrasmedbio.2013.10.014. PMID: 24412175

Prognosis

Yi C, Han L, Yang R, Yu J
Tumori 2017 Nov 15;103(Suppl. 1):e47-e49. doi: 10.5301/tj.5000677. PMID: 28799639
Komada H, Hirota Y, So A, Nakamura T, Okuno Y, Fukuoka H, Iguchi G, Takahashi Y, Sakaguchi K, Ogawa W
J Clin Endocrinol Metab 2017 Sep 1;102(9):3400-3405. doi: 10.1210/jc.2017-00357. PMID: 28666346
Thomson N, Pacak K, Schmidt MH, Palmer CA, Salzman KL, Champine M, Schiffman JD, Cohen AL
J Neurosurg Spine 2017 Apr;26(4):501-506. Epub 2017 Jan 27 doi: 10.3171/2016.10.SPINE16948. PMID: 28128698Free PMC Article
Dragović T, Marinković D, Kuzmić-Janković S, Prelević R, Milović N, Kovačević B, Hajduković Z
Vojnosanit Pregl 2015 Sep;72(9):831-6. PMID: 26554117
Toyoda H, Hirayama J, Sugimoto Y, Uchida K, Ohishi K, Hirayama M, Komada Y
Pediatrics 2014 Jun;133(6):e1787-91. Epub 2014 May 12 doi: 10.1542/peds.2013-2419. PMID: 24819565

Clinical prediction guides

Assadipour Y, Sadowski SM, Alimchandani M, Quezado M, Steinberg SM, Nilubol N, Patel D, Prodanov T, Pacak K, Kebebew E
Surgery 2017 Jan;161(1):230-239. Epub 2016 Nov 10 doi: 10.1016/j.surg.2016.05.050. PMID: 27839933Free PMC Article
Imamura H, Muroya K, Tanaka E, Konomoto T, Moritake H, Sato T, Kimura N, Takekoshi K, Nunoi H
Eur J Pediatr 2016 Jan;175(1):137-41. Epub 2015 Aug 19 doi: 10.1007/s00431-015-2614-5. PMID: 26283294
Rich T, Jackson M, Roman-Gonzalez A, Shah K, Cote GJ, Jimenez C
Fam Cancer 2015 Dec;14(4):615-9. Epub 2015 Jul 11 doi: 10.1007/s10689-015-9821-0. PMID: 26162468
Li Y, Guo A, Tang J, Li Q, Fei X, Zhang Y, Gao J
Ultrasound Med Biol 2014 Mar;40(3):478-84. Epub 2014 Jan 10 doi: 10.1016/j.ultrasmedbio.2013.10.014. PMID: 24412175
Takahashi K, Yamamoto Y, Ohshima S, Morita Y, Takahashi S
Auris Nasus Larynx 2014 Feb;41(1):93-6. Epub 2013 May 18 doi: 10.1016/j.anl.2013.04.007. PMID: 23694736

Recent systematic reviews

Wing LA, Conaglen JV, Meyer-Rochow GY, Elston MS
J Clin Endocrinol Metab 2015 Aug;100(8):3202-9. Epub 2015 Jun 17 doi: 10.1210/jc.2015-2122. PMID: 26083822
Niemeijer ND, Alblas G, van Hulsteijn LT, Dekkers OM, Corssmit EP
Clin Endocrinol (Oxf) 2014 Nov;81(5):642-51. Epub 2014 Jul 30 doi: 10.1111/cen.12542. PMID: 25041164
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
van Hulsteijn LT, Niemeijer ND, Dekkers OM, Corssmit EP
Clin Endocrinol (Oxf) 2014 Apr;80(4):487-501. Epub 2013 Nov 19 doi: 10.1111/cen.12341. PMID: 24118038
Schalenbourg A, Moulin A, Guillou L, Zografos L
Ophthalmology 2011 Nov;118(11):2238-41. Epub 2011 Sep 9 doi: 10.1016/j.ophtha.2011.04.017. PMID: 21906814

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center