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Paragangliomas 2(PGL2)

MedGen UID:
357076
Concept ID:
C1866552
Disease or Syndrome
Synonyms: Glomus tumors, familial, 2; Hereditary Paraganglioma-Pheochromocytoma Syndromes; PGL2; SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome; SDHAF2-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome (Paragangliomas 2)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene (location): SDHAF2 (11q12.2)
OMIM®: 601650

Disease characteristics

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. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Salman Kirmani  |  William F Young   view full author information

Additional description

From GHR
Hereditary paraganglioma-pheochromocytoma is a condition characterized by the growth of noncancerous (benign) tumors in structures called paraganglia. Paraganglia are groups of cells that are found near nerve cell bunches called ganglia. A tumor involving the paraganglia is known as a paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in the adrenal glands, which are located on top of each kidney and produce hormones in response to stress. Other types of paraganglioma are usually found in the head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma develop one or more paragangliomas, which may include pheochromocytomas. Pheochromocytomas and some other paragangliomas are associated with ganglia of the sympathetic nervous system. The sympathetic nervous system controls the "fight-or-flight" response, a series of changes in the body due to hormones released in response to stress. Sympathetic paragangliomas found outside the adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. Most sympathetic paragangliomas, including pheochromocytomas, produce hormones called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess catecholamines can cause signs and symptoms such as high blood pressure (hypertension), episodes of rapid heartbeat (palpitations), headaches, or sweating. Most paragangliomas are associated with ganglia of the parasympathetic nervous system, which controls involuntary body functions such as digestion and saliva formation. Parasympathetic paragangliomas, typically found in the head and neck, usually do not produce hormones. However, large tumors may cause signs and symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. Although most paragangliomas and pheochromocytomas are noncancerous, some can become cancerous (malignant) and spread to other parts of the body (metastasize). Extra-adrenal paragangliomas become malignant more often than other types of paraganglioma or pheochromocytoma. Researchers have identified four types of hereditary paraganglioma-pheochromocytoma, named types 1 through 4. Each type is distinguished by its genetic cause. People with types 1, 2, and 3 typically develop paragangliomas in the head or neck region. People with type 4 usually develop extra-adrenal paragangliomas in the abdomen and are at higher risk for malignant tumors that metastasize. Hereditary paraganglioma-pheochromocytoma is typically diagnosed in a person's 30s.  http://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma

Clinical features

Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Paraganglioma-related cranial nerve palsy
MedGen UID:
505218
Concept ID:
CN002159
Finding
A cranial nerve palsy associated with a paraganglioma of the head or neck.
Vagal paraganglioma
MedGen UID:
505389
Concept ID:
CN002610
Finding
Glomus jugular tumor
MedGen UID:
505430
Concept ID:
CN002713
Finding
Glomus tympanicum paraganglioma
MedGen UID:
429056
Concept ID:
CN005846
Finding
Chemodectoma
MedGen UID:
830614
Concept ID:
CN218510
Finding
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Paraganglioma-related cranial nerve palsy
MedGen UID:
505218
Concept ID:
CN002159
Finding
A cranial nerve palsy associated with a paraganglioma of the head or neck.
Vagal paraganglioma
MedGen UID:
505389
Concept ID:
CN002610
Finding
Glomus jugular tumor
MedGen UID:
505430
Concept ID:
CN002713
Finding
Glomus tympanicum paraganglioma
MedGen UID:
429056
Concept ID:
CN005846
Finding
Chemodectoma
MedGen UID:
830614
Concept ID:
CN218510
Finding
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Pulsatile tinnitus (tympanic paraganglioma)
MedGen UID:
344264
Concept ID:
C1854340
Finding
Paraganglioma-related cranial nerve palsy
MedGen UID:
505218
Concept ID:
CN002159
Finding
A cranial nerve palsy associated with a paraganglioma of the head or neck.
Vagal paraganglioma
MedGen UID:
505389
Concept ID:
CN002610
Finding
Glomus jugular tumor
MedGen UID:
505430
Concept ID:
CN002713
Finding
Glomus tympanicum paraganglioma
MedGen UID:
429056
Concept ID:
CN005846
Finding
Chemodectoma
MedGen UID:
830614
Concept ID:
CN218510
Finding
A usually benign neoplasm originating in the chemoreceptor tissue of the cartodi body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract.
Hoarse voice (caused by tumor impingement)
MedGen UID:
381401
Concept ID:
C1854348
Finding
Loss of voice
MedGen UID:
504912
Concept ID:
CN001535
Finding
Vocal cord paralysis (caused by tumor impingement)
MedGen UID:
344266
Concept ID:
C1854345
Finding

Professional guidelines

PubMed

Hampel H, Bennett RL, Buchanan A, Pearlman R, Wiesner GL; Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committee and National Society of Genetic Counselors Practice Guidelines Committee
Genet Med 2015 Jan;17(1):70-87. Epub 2014 Nov 13 doi: 10.1038/gim.2014.147. [Epub ahead of print] PMID: 25394175
ACMG Board of Directors
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. [Epub ahead of print] PMID: 25356965
Reaume MN, Graham GE, Tomiak E, Kamel-Reid S, Jewett MA, Bjarnason GA, Blais N, Care M, Drachenberg D, Gedye C, Grant R, Heng DY, Kapoor A, Kollmannsberger C, Lattouf JB, Maher ER, Pause A, Ruether D, Soulieres D, Tanguay S, Turcotte S, Violette PD, Wood L, Basiuk J, Pautler SE; Kidney Cancer Research Network of Canada
Can Urol Assoc J 2013 Sep-Oct;7(9-10):319-23. doi: 10.5489/cuaj.1496. PMID: 24319509Free PMC Article
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. [Epub ahead of print] PMID: 23788249Free PMC Article
Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K; American Society of Clinical Oncology
J Clin Oncol 2010 Feb 10;28(5):893-901. Epub 2010 Jan 11 doi: 10.1200/JCO.2009.27.0660. [Epub ahead of print] PMID: 20065170
Zon RT, Goss E, Vogel VG, Chlebowski RT, Jatoi I, Robson ME, Wollins DS, Garber JE, Brown P, Kramer BS; American Society of Clinical Oncology
J Clin Oncol 2009 Feb 20;27(6):986-93. Epub 2008 Dec 15 doi: 10.1200/JCO.2008.16.3691. [Epub ahead of print] PMID: 19075281Free PMC Article

Recent clinical studies

Etiology

Zhang J, Ma J, Du X, Wu D, Ai H, Bai J, Dong S, Yang Q, Qu K, Lyu Y, Valenzuela RK, Liu C
Chin Med J (Engl) 2015 Jan 5;128(1):32-8. doi: 10.4103/0366-6999.147802. PMID: 25563310
Boedeker CC, Hensen EF, Neumann HP, Maier W, van Nederveen FH, Suárez C, Kunst HP, Rodrigo JP, Takes RP, Pellitteri PK, Rinaldo A, Ferlito A
Head Neck 2014 Jun;36(6):907-16. Epub 2013 Nov 30 doi: 10.1002/hed.23436. [Epub ahead of print] PMID: 23913591
Işik AC, Imamoğlu M, Erem C, Sari A
Med Princ Pract 2007;16(3):209-14. doi: 10.1159/000100392. PMID: 17409756
Zagar I, Han R, Mitrovic S
Q J Nucl Med 1995 Dec;39(4 Suppl 1):13-6. PMID: 9002742
Karamitopoulou E, Perentes E, Melachrinou M, Maraziotis T
Acta Neuropathol 1993;85(3):316-22. PMID: 7681617

Diagnosis

Zhang J, Ma J, Du X, Wu D, Ai H, Bai J, Dong S, Yang Q, Qu K, Lyu Y, Valenzuela RK, Liu C
Chin Med J (Engl) 2015 Jan 5;128(1):32-8. doi: 10.4103/0366-6999.147802. PMID: 25563310
Boedeker CC, Hensen EF, Neumann HP, Maier W, van Nederveen FH, Suárez C, Kunst HP, Rodrigo JP, Takes RP, Pellitteri PK, Rinaldo A, Ferlito A
Head Neck 2014 Jun;36(6):907-16. Epub 2013 Nov 30 doi: 10.1002/hed.23436. [Epub ahead of print] PMID: 23913591
Aschenbach R, Basche S, Esser D, Vogl TJ
Eur J Radiol 2012 Feb;81(2):257-61. Epub 2010 Nov 30 doi: 10.1016/j.ejrad.2010.11.011. [Epub ahead of print] PMID: 21123017
Maier W, Marangos N, Laszig R
J Laryngol Otol 1999 Nov;113(11):978-82. PMID: 10696374
Samuel AM, Murugesan S, Kurkure PA, Advani SH, Sonawane GA, Noronha OP
Indian J Cancer 1994 Jun;31(2):103-10. PMID: 7927441

Therapy

Zagar I, Han R, Mitrovic S
Q J Nucl Med 1995 Dec;39(4 Suppl 1):13-6. PMID: 9002742

Prognosis

Işik AC, Imamoğlu M, Erem C, Sari A
Med Princ Pract 2007;16(3):209-14. doi: 10.1159/000100392. PMID: 17409756
Zagar I, Han R, Mitrovic S
Q J Nucl Med 1995 Dec;39(4 Suppl 1):13-6. PMID: 9002742
Karamitopoulou E, Perentes E, Diamantis I, Maraziotis T
Acta Neuropathol 1994;87(1):47-54. PMID: 7511316
Karamitopoulou E, Perentes E, Melachrinou M, Maraziotis T
Acta Neuropathol 1993;85(3):316-22. PMID: 7681617

Clinical prediction guides

Zhang J, Ma J, Du X, Wu D, Ai H, Bai J, Dong S, Yang Q, Qu K, Lyu Y, Valenzuela RK, Liu C
Chin Med J (Engl) 2015 Jan 5;128(1):32-8. doi: 10.4103/0366-6999.147802. PMID: 25563310
Karamitopoulou E, Perentes E, Diamantis I, Maraziotis T
Acta Neuropathol 1994;87(1):47-54. PMID: 7511316
Karamitopoulou E, Perentes E, Melachrinou M, Maraziotis T
Acta Neuropathol 1993;85(3):316-22. PMID: 7681617
Bostwick DG, Bensch KG
J Pathol 1985 Dec;147(4):237-44. doi: 10.1002/path.1711470402. PMID: 3003308

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