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Carotid body paraganglioma(CBT1)

MedGen UID:
2853
Concept ID:
C0007279
Neoplastic Process
Synonyms: CAROTID BODY TUMORS; Chemodectoma; 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

Moore MG, Netterville JL, Mendenhall WM, Isaacson B, Nussenbaum B
Otolaryngol Head Neck Surg 2016 Apr;154(4):597-605. Epub 2016 Feb 9 doi: 10.1177/0194599815627667. PMID: 26861230

Recent clinical studies

Etiology

Mazzoni A, Franz L, Zanoletti E
Acta Otorhinolaryngol Ital 2024 Apr;44(2):76-82. doi: 10.14639/0392-100X-N2761. PMID: 38651551Free PMC Article
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Diagn Pathol 2023 Feb 24;18(1):31. doi: 10.1186/s13000-023-01314-y. PMID: 36829189Free PMC Article
Lamblin E, Atallah I, Reyt E, Schmerber S, Magne JL, Righini CA
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov;133(5):319-324. Epub 2016 Jun 11 doi: 10.1016/j.anorl.2016.05.006. PMID: 27297087
Moore MG, Netterville JL, Mendenhall WM, Isaacson B, Nussenbaum B
Otolaryngol Head Neck Surg 2016 Apr;154(4):597-605. Epub 2016 Feb 9 doi: 10.1177/0194599815627667. PMID: 26861230
Işik AC, Erem C, Imamoğlu M, Cinel A, Sari A, Maral G
Eur Arch Otorhinolaryngol 2006 Jan;263(1):23-31. Epub 2005 Nov 30 doi: 10.1007/s00405-004-0885-y. PMID: 16320027

Diagnosis

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
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
Moore MG, Netterville JL, Mendenhall WM, Isaacson B, Nussenbaum B
Otolaryngol Head Neck Surg 2016 Apr;154(4):597-605. Epub 2016 Feb 9 doi: 10.1177/0194599815627667. PMID: 26861230
Manzoor T, Ahmed B, Najam A, Ayub Z
J Coll Physicians Surg Pak 2009 Aug;19(8):523-5. PMID: 19651019
Işik AC, Erem C, Imamoğlu M, Cinel A, Sari A, Maral G
Eur Arch Otorhinolaryngol 2006 Jan;263(1):23-31. Epub 2005 Nov 30 doi: 10.1007/s00405-004-0885-y. PMID: 16320027

Therapy

Yadav MP, Raju S, Ballal S, Bal C
Clin Nucl Med 2024 Jan 1;49(1):e33-e34. Epub 2023 Nov 16 doi: 10.1097/RLU.0000000000004929. PMID: 37976428
Gupta SK, Singla S, Karunanithi S, Damle N, Bal C
Clin Nucl Med 2014 May;39(5):440-1. doi: 10.1097/RLU.0000000000000273. PMID: 24217545
Horowitz M, Whisnant RE, Jungreis C, Snyderman C, Levy EI, Kassam A
Ear Nose Throat J 2002 Aug;81(8):536-8, 540, 542 passim. PMID: 12199171
Higo R, Asai M, Sugasawa M, Takeuchi N, Nemoto S
Auris Nasus Larynx 1994;21(2):122-5. doi: 10.1016/s0385-8146(12)80031-9. PMID: 7993226
Gruber H, Metson R
Ann Intern Med 1980 Jun;92(6):800-2. doi: 10.7326/0003-4819-92-6-800. PMID: 7387023

Prognosis

Shin J, Yun JS, Kim YW
World J Surg Oncol 2024 Apr 25;22(1):112. doi: 10.1186/s12957-024-03390-w. PMID: 38664798Free PMC Article
Tabb JN, Maas JA, Earla BP, Fallon KB, McDonald AM, Dobelbower MC
Diagn Pathol 2023 Feb 24;18(1):31. doi: 10.1186/s13000-023-01314-y. PMID: 36829189Free PMC Article
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
Lamblin E, Atallah I, Reyt E, Schmerber S, Magne JL, Righini CA
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov;133(5):319-324. Epub 2016 Jun 11 doi: 10.1016/j.anorl.2016.05.006. PMID: 27297087
Cvjetko I, Erdelez L, Podvez Z, Buhin M, Vidjak V, Borovecki A, Cvjetko T, Grsic K
J Craniofac Surg 2013 May;24(3):e242-5. doi: 10.1097/SCS.0b013e31828607ef. PMID: 23714977

Clinical prediction guides

Shin J, Yun JS, Kim YW
World J Surg Oncol 2024 Apr 25;22(1):112. doi: 10.1186/s12957-024-03390-w. PMID: 38664798Free PMC Article
Mazzoni A, Franz L, Zanoletti E
Acta Otorhinolaryngol Ital 2024 Apr;44(2):76-82. doi: 10.14639/0392-100X-N2761. PMID: 38651551Free PMC Article
Greenberg SE, Holman R, Kohlmann W, Buchmann L, Naumer A
Clin Endocrinol (Oxf) 2021 Sep;95(3):447-452. Epub 2021 Jul 22 doi: 10.1111/cen.14559. PMID: 34255389
Lamblin E, Atallah I, Reyt E, Schmerber S, Magne JL, Righini CA
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov;133(5):319-324. Epub 2016 Jun 11 doi: 10.1016/j.anorl.2016.05.006. PMID: 27297087
Moore MG, Netterville JL, Mendenhall WM, Isaacson B, Nussenbaum B
Otolaryngol Head Neck Surg 2016 Apr;154(4):597-605. Epub 2016 Feb 9 doi: 10.1177/0194599815627667. PMID: 26861230

Recent systematic reviews

Jackson RS, Myhill JA, Padhya TA, McCaffrey JC, McCaffrey TV, Mhaskar RS
Otolaryngol Head Neck Surg 2015 Dec;153(6):943-50. Epub 2015 Sep 16 doi: 10.1177/0194599815605323. PMID: 26378186

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