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Paragangliomas 1(PGL1; PGL; CBT1; PPGL1)

MedGen UID:
488134
Concept ID:
C3494181
Neoplastic Process
Synonyms: Glomus tumors familial 1; Paraganglioma - glomus jugulare; Paragangliomas familial 1; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; Paragangliomata; PGL 1; SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome
 
Gene (location): SDHD (11q23.1)
 
Monarch Initiative: MONDO:0008192
OMIM®: 168000

Disease characteristics

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 paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic 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/PCCs 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. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma. [from GeneReviews]
Authors:
Tobias Else  |  Samantha Greenberg  |  Lauren Fishbein   view full author information

Clinical features

From HPO
Carotid body paraganglioma
MedGen UID:
2853
Concept ID:
C0007279
Neoplastic Process
Pheochromocytoma/paraganglioma syndrome-1 (PPGL1) is an autosomal dominant disorder characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas arise from chromaffin cells in the adrenal medulla, whereas paragangliomas arise in extra-adrenal sympathetic ganglia in the thorax, abdomen, and pelvis or from parasympathetic paraganglia in the head and neck area (summary by Cascon et al., 2023). Paragangliomas, also referred to as 'glomus body tumors,' are tumors derived from paraganglia located throughout the body. Nonchromaffin types primarily serve as chemoreceptors (hence, the tumor name 'chemodectomas') and are located in the head and neck region (i.e., carotid body, jugular, vagal, and tympanic regions), whereas chromaffin types have endocrine activity, conventionally referred to as 'pheochromocytomas,' and are usually located below the head and neck (i.e., adrenal medulla and pre- and paravertebral thoracoabdominal regions). PPGL can manifest as nonchromaffin head and neck tumors only, adrenal and/or extraadrenal pheochromocytomas only, or a combination of the 2 types of tumors (Baysal, 2002; Neumann et al., 2004). The triad of gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma constitutes a syndrome that occurs mainly in young women and is known as the Carney triad (604287). This triad is not to be confused with the other Carney syndrome of myxoma, spotty pigmentation, and endocrinopathy (160980). Baysal (2008) provided a review of the molecular pathogenesis of hereditary paraganglioma. Genetic Heterogeneity of Pheochromocytoma/Paraganglioma Syndrome See also PPGL2 (601650), caused by mutation in the SDHAF2 gene (613019) on chromosome 11q13; PPGL3 (605373), caused by mutation in the SDHC gene (602413) on chromosome 1q21; PPGL4 (115310), caused by mutation in the SDHB gene (185470) on chromosome 1p36; PPGL5 (614165), caused by mutation in the SDHA gene (600857) on chromosome 5p15; PPGL6 (618464), caused by mutation in the SLC25A11 gene (604165) on chromosome 17p13; and PPGL7 (618475), caused by mutation in the DLST gene (126063) on chromosome 14q24.
Glomus jugular tumor
MedGen UID:
4905
Concept ID:
C0017671
Neoplastic Process
An extra-adrenal parasympathetic paraganglioma arising from paraganglia in the base of the skull and middle ear.
Vagal paraganglioma
MedGen UID:
141635
Concept ID:
C0474819
Neoplastic Process
A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve.
Tympanic paraganglioma
MedGen UID:
105375
Concept ID:
C0474820
Neoplastic Process
A middle ear paraganglioma arising from paraganglia around the tympanum. Signs and symptoms include a mass behind the tympanum, tinnitus, and conductive hearing loss.
Extraadrenal pheochromocytoma
MedGen UID:
263453
Concept ID:
C1257877
Neoplastic Process
Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia.
Paraganglioma of head and neck
MedGen UID:
232588
Concept ID:
C1333944
Neoplastic Process
A paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas.
Adrenal pheochromocytoma
MedGen UID:
1636437
Concept ID:
C4551683
Neoplastic Process
Pheochromocytoma originating from the adrenal medulla.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Carotid paraganglioma
MedGen UID:
867617
Concept ID:
C4022005
Neoplastic Process
A paraganglioma (a neuroendocrine neoplasm) originating in a carotid artery.
Hypertension associated with pheochromocytoma
MedGen UID:
871214
Concept ID:
C4025693
Disease or Syndrome
A type of hypertension associated with pheochromocytoma.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Pulsatile tinnitus
MedGen UID:
148340
Concept ID:
C0751559
Sign or Symptom
Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.
Cranial nerve paralysis
MedGen UID:
57717
Concept ID:
C0151311
Disease or Syndrome
Injury to any of the cranial nerves or their nuclei in the brain resulting in muscle weakness.
Episodic paroxysmal anxiety
MedGen UID:
923185
Concept ID:
C1387805
Mental or Behavioral Dysfunction
Recurrent attacks of severe anxiety, which occur without restriction to any particular situation or set of circumstances, are therefore unpredictable.
Recurrent paroxysmal headache
MedGen UID:
927617
Concept ID:
C4293708
Sign or Symptom
Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.
Loss of voice
MedGen UID:
2006
Concept ID:
C0003564
Sign or Symptom
A term referring to the inability to speak. It may result from injuries to the vocal cords or may be functional (psychogenic).
Hoarse voice
MedGen UID:
5602
Concept ID:
C0019825
Sign or Symptom
Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.
Vocal cord paralysis
MedGen UID:
53047
Concept ID:
C0042928
Disease or Syndrome
A loss of the ability to move the vocal folds.
Hyperhidrosis
MedGen UID:
5690
Concept ID:
C0020458
Finding
Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.
Elevated circulating catecholamine level
MedGen UID:
871156
Concept ID:
C4025629
Finding
An abnormal increase in catecholamine concentration in the blood.

Professional guidelines

PubMed

Wanna GB, Sweeney AD, Haynes DS, Carlson ML
Otolaryngol Clin North Am 2015 Apr;48(2):331-41. doi: 10.1016/j.otc.2014.12.007. PMID: 25769354
Suárez C, Rodrigo JP, Bödeker CC, Llorente JL, Silver CE, Jansen JC, Takes RP, Strojan P, Pellitteri PK, Rinaldo A, Mendenhall WM, Ferlito A
Head Neck 2013 Aug;35(8):1195-204. Epub 2012 Mar 16 doi: 10.1002/hed.22976. PMID: 22422597
Sismanis A
Curr Opin Otolaryngol Head Neck Surg 2011 Oct;19(5):348-57. doi: 10.1097/MOO.0b013e3283493fd8. PMID: 22552697

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023

Recent clinical studies

Etiology

Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL, Barletta JA
Am J Surg Pathol 2013 Oct;37(10):1612-8. doi: 10.1097/PAS.0b013e318293d83c. PMID: 23797725
Liu DG, Ma XC, Li BM, Zhang JG
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Jan;101(1):102-9. Epub 2005 Oct 12 doi: 10.1016/j.tripleo.2005.05.062. PMID: 16360614
Boedeker CC, Neumann HP, Ridder GJ, Maier W, Schipper J
Otolaryngol Head Neck Surg 2005 Mar;132(3):467-70. doi: 10.1016/j.otohns.2004.09.024. PMID: 15746863

Diagnosis

Rini JN, Keir G, Caravella C, Goenka A, Franceschi AM
AJNR Am J Neuroradiol 2023 Aug;44(8):959-966. Epub 2023 Jul 13 doi: 10.3174/ajnr.A7934. PMID: 37442593Free PMC Article
Liu DG, Ma XC, Li BM, Zhang JG
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Jan;101(1):102-9. Epub 2005 Oct 12 doi: 10.1016/j.tripleo.2005.05.062. PMID: 16360614
Boedeker CC, Neumann HP, Ridder GJ, Maier W, Schipper J
Otolaryngol Head Neck Surg 2005 Mar;132(3):467-70. doi: 10.1016/j.otohns.2004.09.024. PMID: 15746863
Bostwick DG, Null WE, Holmes D, Weber E, Barchas JD, Bensch KG
N Engl J Med 1987 Dec 3;317(23):1439-43. doi: 10.1056/NEJM198712033172304. PMID: 2891033

Prognosis

Kadri PAS, Ibn Essayed W, Al-Mefty O
Oper Neurosurg (Hagerstown) 2022 Jan 1;22(1):e43. doi: 10.1227/ONS.0000000000000021. PMID: 34982914
Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL, Barletta JA
Am J Surg Pathol 2013 Oct;37(10):1612-8. doi: 10.1097/PAS.0b013e318293d83c. PMID: 23797725

Clinical prediction guides

Bostwick DG, Null WE, Holmes D, Weber E, Barchas JD, Bensch KG
N Engl J Med 1987 Dec 3;317(23):1439-43. doi: 10.1056/NEJM198712033172304. PMID: 2891033

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    • NCCN, 2023
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023

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