U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Chemodectoma(CBT1)

MedGen UID:
2853
Concept ID:
C0007279
Neoplastic Process
Synonyms: Carotid body paraganglioma; CAROTID BODY TUMORS; Paraganglioma, carotid body, somatic
SNOMED CT: Neoplasm of carotid body (127028003); Carotid body tumor (30699005); Carotid body paraganglioma (30699005)
 
HPO: HP:0030074
Monarch Initiative: MONDO:0021053
OMIM®: 168000

Definition

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. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarotid body paraganglioma

Conditions with this feature

Paragangliomas 3
MedGen UID:
340200
Concept ID:
C1854336
Disease or Syndrome
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.
Paragangliomas 4
MedGen UID:
349380
Concept ID:
C1861848
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.
Paragangliomas 2
MedGen UID:
357076
Concept ID:
C1866552
Disease or Syndrome
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.
Paragangliomas 1
MedGen UID:
488134
Concept ID:
C3494181
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

Usachev DY, Lukshin VA, Akhmedov AD, Shulgina AA, Ogurtsova AA, Pronin IN, Yakovlev SB
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):8-20. doi: 10.17116/neiro2023870518. PMID: 37830464
Massey V, Wallner K
Cancer 1992 Feb 1;69(3):790-2. doi: 10.1002/1097-0142(19920201)69:3<790::aid-cncr2820690329>3.0.co;2-u. PMID: 1309681
Jackson CG, Glasscock ME 3rd, Harris PF
Arch Otolaryngol 1982 Jul;108(7):401-10. doi: 10.1001/archotol.1982.00790550005002. PMID: 6284098

Recent clinical studies

Etiology

Borghese O, Ferrer C, Pisani A, Camaioni A, Giudice R
J Med Vasc 2021 Oct-Dec;46(5-6):209-214. Epub 2021 Aug 11 doi: 10.1016/j.jdmv.2021.07.002. PMID: 34862014
Butt N, Baek WK, Lachkar S, Iwanaga J, Mian A, Blaak C, Shah S, Griessenauer C, Tubbs RS, Loukas M
Br J Neurosurg 2019 Oct;33(5):500-503. Epub 2019 May 27 doi: 10.1080/02688697.2019.1617404. PMID: 31130023
Spina A, Boari N, Gagliardi F, Bailo M, Del Vecchio A, Bolognesi A, Mortini P
Head Neck 2018 Dec;40(12):2677-2684. Epub 2018 Nov 20 doi: 10.1002/hed.25517. PMID: 30456888
Motus IY, Bazhenov AV, Massard G
Asian Cardiovasc Thorac Ann 2015 Sep;23(7):846-50. Epub 2015 Jun 12 doi: 10.1177/0218492315592072. PMID: 26071604
Ribet ME, Cardot GR
Ann Thorac Surg 1994 Oct;58(4):1091-5. doi: 10.1016/0003-4975(94)90464-2. PMID: 7944757

Diagnosis

Usachev DY, Lukshin VA, Akhmedov AD, Shulgina AA, Ogurtsova AA, Pronin IN, Yakovlev SB
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):8-20. doi: 10.17116/neiro2023870518. PMID: 37830464
Jadhav SS, Dhok AP, Mitra KR
Pan Afr Med J 2023;44:182. Epub 2023 Apr 19 doi: 10.11604/pamj.2023.44.182.38636. PMID: 37484598Free PMC Article
Bryant JP, Wang S, Niazi T
Adv Exp Med Biol 2020;1296:151-162. doi: 10.1007/978-3-030-59038-3_9. PMID: 34185291
Butt N, Baek WK, Lachkar S, Iwanaga J, Mian A, Blaak C, Shah S, Griessenauer C, Tubbs RS, Loukas M
Br J Neurosurg 2019 Oct;33(5):500-503. Epub 2019 May 27 doi: 10.1080/02688697.2019.1617404. PMID: 31130023
Schild SE, Foote RL, Buskirk SJ, Robinow JS, Bock FF, Cupps RE, Earle JD
Mayo Clin Proc 1992 Jun;67(6):537-40. doi: 10.1016/s0025-6196(12)60460-1. PMID: 1331629

Therapy

Murata D, Zaizen Y, Tokisawa S, Matama G, Chikasue T, Nishii Y, Ohno S, Tsumura K, Tominaga M, Fukuoka J, Fujimoto K, Hoshino T
Intern Med 2023 Apr 15;62(8):1207-1211. Epub 2022 Aug 30 doi: 10.2169/internalmedicine.0343-22. PMID: 36047121Free PMC Article
Chen W, Qi J
J Tongji Med Univ 1998;18(4):262-4. doi: 10.1007/BF02886488. PMID: 10806861
Shapiro B
Q J Nucl Med 1995 Dec;39(4 Suppl 1):150-5. PMID: 9002776
Schild SE, Foote RL, Buskirk SJ, Robinow JS, Bock FF, Cupps RE, Earle JD
Mayo Clin Proc 1992 Jun;67(6):537-40. doi: 10.1016/s0025-6196(12)60460-1. PMID: 1331629
Massey V, Wallner K
Cancer 1992 Feb 1;69(3):790-2. doi: 10.1002/1097-0142(19920201)69:3<790::aid-cncr2820690329>3.0.co;2-u. PMID: 1309681

Prognosis

Spina A, Boari N, Gagliardi F, Bailo M, Del Vecchio A, Bolognesi A, Mortini P
Head Neck 2018 Dec;40(12):2677-2684. Epub 2018 Nov 20 doi: 10.1002/hed.25517. PMID: 30456888
Dorobisz K, Dorobisz T, Temporale H, Zatoński T, Kubacka M, Chabowski M, Dorobisz A, Kręcicki T, Janczak D
Adv Clin Exp Med 2016 Nov-Dec;25(6):1173-1177. doi: 10.17219/acem/61612. PMID: 28028970
Motus IY, Bazhenov AV, Massard G
Asian Cardiovasc Thorac Ann 2015 Sep;23(7):846-50. Epub 2015 Jun 12 doi: 10.1177/0218492315592072. PMID: 26071604
Spratt JS, Meyer JS, Spratt JA
J Surg Oncol 1996 Jan;61(1):68-83. doi: 10.1002/1096-9098(199601)61:1<68::aid-jso2930610102>3.0.co;2-e. PMID: 8544465
Massey V, Wallner K
Cancer 1992 Feb 1;69(3):790-2. doi: 10.1002/1097-0142(19920201)69:3<790::aid-cncr2820690329>3.0.co;2-u. PMID: 1309681

Clinical prediction guides

Usachev DY, Lukshin VA, Akhmedov AD, Shulgina AA, Ogurtsova AA, Pronin IN, Yakovlev SB
Zh Vopr Neirokhir Im N N Burdenko 2023;87(5):8-20. doi: 10.17116/neiro2023870518. PMID: 37830464
Aubertine CL, Flieder DB
Ann Diagn Pathol 2004 Aug;8(4):237-41. doi: 10.1053/j.anndiagpath.2004.04.008. PMID: 15290677
Spratt JS, Meyer JS, Spratt JA
J Surg Oncol 1996 Jan;61(1):68-83. doi: 10.1002/1096-9098(199601)61:1<68::aid-jso2930610102>3.0.co;2-e. PMID: 8544465
Ribet ME, Cardot GR
Ann Thorac Surg 1994 Oct;58(4):1091-5. doi: 10.1016/0003-4975(94)90464-2. PMID: 7944757
Harris S, Brismar J, Cronqvist S
Acta Otolaryngol 1979;88(3-4):220-6. doi: 10.3109/00016487909137163. PMID: 227223

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...