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| __NOTOC__ | | __NOTOC__ |
| {{SI}} | | {{Carotid body tumor}} |
| {{CMG}} {{AE}} {{Sahar}} {{MV}} | | {{CMG}} {{AE}} {{Sahar}} {{MV}} |
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| {{SK}} Tumor of the carotid body; | | {{SK}} Tumor of the carotid body |
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| ==Overview== | | ==Overview== |
| '''Carotid body tumor''' (also known as carotid body paraganglioma) is a highly vascular glomus tumor that arises from the paraganglion cells of the carotid body. It is located at the carotid bifurcation with characteristic splaying of the internal carotid artery and external carotid artery. Carotid body tumor is classified into 3 categories: familial carotid body tumor, sporadic carotid body tumor, and hyperplastic carotid body tumor. The pathogenesis of carotid body tumor is characterized by the overgrowth from [[chemoreceptor]] paraganglioma cells. The genetic mutations associated with the development of carotid body tumor, include: [[Multiple endocrine neoplasia type 2|MEN 2A]], [[MEN 2B]], and chromosome 3p25.5. Common causes of carotid body tumor, include: multiple endocrine neoplasia, [[phakomatoses]], tuberous sclerosis complex (TS), [[Neurofibromatosis type I|neurofibromatosis type 1]] (NF1), [[Von Hippel-Lindau disease]] (vHL), and the [[Carney complex|Carney triad]]. Carotid body tumors can be multicentric (35-50%) or familial (7-10%). In familial forms, carotid body tumors are usually autosomal dominant in inheritance, and associated with genetic syndromes. The estimated prevalence of carotid body tumor is approximately 1-2 cases per 100,000 individuals worldwide. Patients with carotid body tumor may be initially asymptomatic. Early clinical features include painless neck mass, dysphagia, and limited range of motion in the neck. If left untreated, the majority of patients with carotid body tumor may progress to develop neurological complications.<ref name="pmid23336858">{{cite journal |vauthors=Sen I, Stephen E, Malepathi K, Agarwal S, Shyamkumar NK, Mammen S |title=Neurological complications in carotid body tumors: a 6-year single-center experience |journal=J. Vasc. Surg. |volume=57 |issue=2 Suppl |pages=64S–8S |year=2013 |pmid=23336858 |doi=10.1016/j.jvs.2012.06.114 |url=}}</ref> Transcervical surgery approach in conjunction with embolisation are the most common approaches to the treatment of carotid body tumor.<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| ==Historical Perspective== | | ==Historical Perspective== |
| *Carotid body was first described by Von Haller in 1743.<ref name="RidgeBrewster1993">{{cite journal|last1=Ridge|first1=Brian A.|last2=Brewster|first2=David C.|last3=Darling|first3=R. Clement|last4=Cambria|first4=Richard P.|last5=LaMuraglia|first5=Glenn M.|last6=Abbott|first6=William M.|title=Familial Carotid Body Tumors: Incidence and Implications|journal=Annals of Vascular Surgery|volume=7|issue=2|year=1993|pages=190–194|issn=08905096|doi=10.1007/BF02001015}}</ref>
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| *The familial form of the carotid body tumor was first described by Chase in 1933.
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| *Carotid body tumor was first described by Bungeler in 1952.<ref name="carotidbodytumor">Zak, Hyams, and Lawson, The Paraganglionic Chemoreceptor System: Physiology, Pathology and Clinical Medicine.</ref>
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| *The tumor is also called chemodectema, first suggested by Mulligan in 1951.<ref name="ShamblinReMine1971">{{cite journal|last1=Shamblin|first1=William R.|last2=ReMine|first2=William H.|last3=Sheps|first3=Sheldon G.|last4=Harrison|first4=Edgar G.|title=Carotid body tumor (chemodectoma)|journal=The American Journal of Surgery|volume=122|issue=6|year=1971|pages=732–739|issn=00029610|doi=10.1016/0002-9610(71)90436-3}}</ref>
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| ==Classification== | | ==Classification== |
| *Carotid body tumor is classified into 3 categories:
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| :*Familial carotid body tumor
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| :*Sporadic carotid body tumor
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| :*Hyperplastic carotid body tumor
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| *Carotid body tumor is sub-classified into 2 categories:
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| :*Single
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| :*Bilateral
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| *Carotid body tumor may also be classified according to Shamblin surgical classification into 3 subtypes: I, II, and III.<ref name="pmid18417602">{{cite journal |vauthors=Arya S, Rao V, Juvekar S, Dcruz AK |title=Carotid body tumors: objective criteria to predict the Shamblin group on MR imaging |journal=AJNR Am J Neuroradiol |volume=29 |issue=7 |pages=1349–54 |year=2008 |pmid=18417602 |doi=10.3174/ajnr.A1092 |url=}}</ref>
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| :*Class I: localized with minimal vascular attachment
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| :*Class II: partially surrounds carotids.
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| :*Class III: encases carotids.
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| *The image below demonstrates the distribution of carotid body tumors.
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| <gallery>
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| Distribution-of-paragangliomas.jpg | Distribution of paraganglioma<ref>Distribution of paraganglioma. Radiopaedia 2015. Dr Yuranga Weerakkody and Assoc Prof Frank Gaillard et al. https://en.wikipedia.org/wiki/Paraganglioma#/media/File:Paraganglioma_-_s100_-_very_high_mag.jpg. Accessed on November 23, 2015</ref>
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| </Gallery>
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| ==Pathophysiology== | | ==Pathophysiology== |
| *Carotid body tumor is a neuroendocrine neoplasm originating from carotid body.<ref name="pmid15883711">{{cite journal |vauthors=Boedeker CC, Ridder GJ, Schipper J |title=Paragangliomas of the head and neck: diagnosis and treatment |journal=Fam. Cancer |volume=4 |issue=1 |pages=55–9 |date=2005 |pmid=15883711 |doi=10.1007/s10689-004-2154-z |url=}}</ref>
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| **Carotid body is a component of the autonomic system derived from neural crest cells.
| | ==Genetics== |
| *The overgrowth of chemoreceptor paraganglioma cells in the carotid body leads to the formation of carotid body tumor.
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| *Carotid body tumors are normally located in the medial aspect adventitia of the carotid bifurcation.
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| *Carotid body tumor occurs sporadicly in 90% of the cases.<ref name="RidgeBrewster1993">{{cite journal|last1=Ridge|first1=Brian A.|last2=Brewster|first2=David C.|last3=Darling|first3=R. Clement|last4=Cambria|first4=Richard P.|last5=LaMuraglia|first5=Glenn M.|last6=Abbott|first6=William M.|title=Familial Carotid Body Tumors: Incidence and Implications|journal=Annals of Vascular Surgery|volume=7|issue=2|year=1993|pages=190–194|issn=08905096|doi=10.1007/BF02001015}}</ref>
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| **The tumor may be bilateral in fewer than 5% of the sporadic cases.
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| *The tumor may be familial in the rest 10%.
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| **In familial cases, it may be bilateral in up to one-third of the cases.
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| *The genetic mutations associated with the development of carotid body tumor, include:
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| :*MEN 2A
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| :*MEN 2B
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| :*Chromosome 3p25.5
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| *On gross pathology, characteristic findings of carotid body tumor, include:
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| :*Dusky color
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| :*Highly vascular mass
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| ==Histology== | | ==Histology== |
| *On microscopic histopathological analysis, carotid body tumor composed of:
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| **The chief or paraganglionic cells composing the predominant part of the tumor and contain eosinophilic grannular materials and oval or round nuclei.<ref name="PatetsiosGable2002">{{cite journal|last1=Patetsios|first1=Peter|last2=Gable|first2=Dennis R.|last3=Garrett|first3=Wilson V.|last4=Lamont|first4=Jeffrey P.|last5=Kuhn|first5=Joseph A.|last6=Shutze|first6=William P.|last7=Kourlis|first7=Harry|last8=Grimsley|first8=Bradley|last9=Pearl|first9=Gregory J.|last10=Smith|first10=Bertram L.|last11=Talkington|first11=C.M.|last12=Thompson|first12=Jesse E.|title=Management of Carotid Body Paragangliomas and Review of a 30-year Experience|journal=Annals of Vascular Surgery|volume=16|issue=3|year=2002|pages=331–338|issn=08905096|doi=10.1007/s10016-001-0106-8}}</ref>
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| **The supporting or sustentacular cells responsible for the chemoreceptor activity of the carotid body
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| *The carachteristic finding of this tumor is:
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| :*Chief cells Arranged in distinctive pattern called cell balls (zellballen)
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| :*Separated by fibrovascular stroma and surrounded by sustentacular cells
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| *The tumor is highly vascular.
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| :*Positive for [[chromogranin]], [[synaptophysin]], neuron-specific enolase, [[serotonin]], [[neurofilament]] and [[neural cell adhesion molecule]]; they are [[S-100 protein]] negative.
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| :*The sustentacular cells are S-100 positive and focally positive for [[glial fibrillary acidic protein]].
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| :*By [[histochemistry]], the paraganglioma cells are argyrophilic, [[periodic acid Schiff]] negative, [[mucicarmine]] negative, and [[argentaffin]] negative.
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| *The images below demonstrate gross pathology and microscopic histopathological findings of the carotid body tumor.
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| <gallery>
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| Carotid-body-tumour-gross-pathology.jpg | Gross pathology of carotid body tumor<ref>Carotid body tumor. Dr Yuranga Weerakkody and Assoc Prof Frank Gaillard et al. Radiopaedia 2015. http://radiopaedia.org/articles/carotid-body-tumour. Accessed on December 7, 2015</ref>
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| Image:800px-Carotid_body_tumour_2_intermed_mag.jpg | Carotid body tumor higher magnification<ref name=aaa>Carotid body tumor. Wikipedi 2015. Accessed on November 23, 2015. https://en.wikipedia.org/wiki/Paraganglioma#/media/File:Carotid_body_tumour_2_low_mag.jpg</ref>
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| 218px-Carotid_body_tumour_2_low_mag.jpg | Carotid body tumor lower magnification<ref name=aaa>Carotid body tumor. Wikipedi 2015. Accessed on November 23, 2015. https://en.wikipedia.org/wiki/Paraganglioma#/media/File:Carotid_body_tumour_2_low_mag.jpg</ref>
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| </gallery>
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| ==Causes== | | ==Causes== |
| *Common causes of carotid body tumor, include:
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| :*[[Multiple endocrine neoplasia]]
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| :*Phakomatoses
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| :*Tuberous sclerosis complex (TS)
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| :*Neurofibromatosis type 1 (NF1)
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| :*Von Hippel-Lindau disease (vHL)
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| :*Carney triad
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| ==Differentiating Carotid Body Tumor from Other Diseases== | | ==Differentiating Carotid Body Tumor from Other Diseases== |
| *Carotid body tumor must be differentiated from other diseases that cause rounded neck mass, limited range of head motion, and dyspnea such as:<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| :*[[Schwannoma|Vagal schwannoma]]
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| :*[[Neurofibroma|Vagal neurofibroma]]
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| :*Lymph node mass
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| :*Glomus vagale tumour
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| :*Carotid bulb ectasia
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| :*Carotid calcification
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| :*Branchial cleft cyst
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| ==Epidemiology and Demographics== | | ==Epidemiology and Demographics== |
| * The incidence of this tumor is less than 3 in 100,000 individuals.<ref name="WienekeSmith2009">{{cite journal|last1=Wieneke|first1=Jacqueline A.|last2=Smith|first2=Alice|title=Paraganglioma: Carotid Body Tumor|journal=Head and Neck Pathology|volume=3|issue=4|year=2009|pages=303–306|issn=1936-055X|doi=10.1007/s12105-009-0130-5}}</ref>
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| * The prevalence of carotid body tumor is approximately 65% of head and neck paraganglioma.<ref name="XiaoShe2015">{{cite journal|last1=Xiao|first1=Zebin|last2=She|first2=Dejun|last3=Cao|first3=Dairong|title=Multiple paragangliomas of head and neck associated with hepatic paraganglioma: a case report|journal=BMC Medical Imaging|volume=15|issue=1|year=2015|issn=1471-2342|doi=10.1186/s12880-015-0082-z}}</ref>
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| * The prevalence of head and neck paraganglioma is 3% of all paraganglioma.
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| * The estimated prevalence of parasymapathetic paraganglioma is approximately 1-2 cases per 100,000 individuals worldwide.
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| ===Age=== | | ===Age=== |
| *Carotid body tumor is more commonly observed in the adults and particularly in their fifth decade of life.<ref name="LeeOh2006">{{cite journal|last1=Lee|first1=Ki Yeol|last2=Oh|first2=Yu-Whan|last3=Noh|first3=Hyung Jun|last4=Lee|first4=Yu Jin|last5=Yong|first5=Hwan-Seok|last6=Kang|first6=Eun-Young|last7=Kim|first7=Kyeong Ah|last8=Lee|first8=Nam Joon|title=Extraadrenal Paragangliomas of the Body: Imaging Features|journal=American Journal of Roentgenology|volume=187|issue=2|year=2006|pages=492–504|issn=0361-803X|doi=10.2214/AJR.05.0370}}</ref>
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| ===Gender=== | | ===Gender=== |
| There is no gender preference in the in the incidence of this tumor according to the recent litreture.
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| ===Race=== | | ===Race=== |
| *There is no racial predilection for carotid body tumor.
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| ==Risk Factors== | | ==Risk Factors== |
| *Common risk factors in the development of carotid body tumor, include:<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| :*Genetic mutations in the following genes:
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| ::*MEN 2A
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| ::*MEN 2B
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| ::*Chromosome 3p25.5
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| == Natural History, Complications and Prognosis== | | == Natural History, Complications and Prognosis== |
| *Patients with carotid body tumor may be initially asymptomatic.
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| *Early clinical features include painless [[Neck masses|neck mass]], [[dysphagia]], and limited range of motion in the neck.
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| *If left untreated, the majority of patients with carotid body tumor may progress to develop neurological complications.<ref name="pmid23336858">{{cite journal |vauthors=Sen I, Stephen E, Malepathi K, Agarwal S, Shyamkumar NK, Mammen S |title=Neurological complications in carotid body tumors: a 6-year single-center experience |journal=J. Vasc. Surg. |volume=57 |issue=2 Suppl |pages=64S–8S |year=2013 |pmid=23336858 |doi=10.1016/j.jvs.2012.06.114 |url=}}</ref>
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| *Common complications of carotid body tumor, include [[cranial nerve palsy]], [[stroke]], or Horner syndrome.<ref name="pmid23336858">{{cite journal |vauthors=Sen I, Stephen E, Malepathi K, Agarwal S, Shyamkumar NK, Mammen S |title=Neurological complications in carotid body tumors: a 6-year single-center experience |journal=J. Vasc. Surg. |volume=57 |issue=2 Suppl |pages=64S–8S |year=2013 |pmid=23336858 |doi=10.1016/j.jvs.2012.06.114 |url=}}</ref>
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| *Prognosis is generally poor, and the average 5 year survival rate of patients with carotid body tumor is approximately 25-40%.
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| == Diagnosis == | | == Diagnosis == |
| ===Diagnostic Criteria=== | | ===Diagnostic Criteria=== |
| *The diagnosis of carotid body tumor is made with imaging findings:<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| :*Lyre sign (see Imaging below)
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| :*Early vein due to arteriovenous shunting
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| :*Bright and rapid enhancement
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| :*Family history of the following syndromes (tuberous sclerosis complex, neurofibromatosis type 1, and Von Hippel-Lindau disease)
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| === Symptoms === | | === Symptoms === |
| *Symptoms of carotid body tumor may include the following:<ref name="PatetsiosGable2002">{{cite journal|last1=Patetsios|first1=Peter|last2=Gable|first2=Dennis R.|last3=Garrett|first3=Wilson V.|last4=Lamont|first4=Jeffrey P.|last5=Kuhn|first5=Joseph A.|last6=Shutze|first6=William P.|last7=Kourlis|first7=Harry|last8=Grimsley|first8=Bradley|last9=Pearl|first9=Gregory J.|last10=Smith|first10=Bertram L.|last11=Talkington|first11=C.M.|last12=Thompson|first12=Jesse E.|title=Management of Carotid Body Paragangliomas and Review of a 30-year Experience|journal=Annals of Vascular Surgery|volume=16|issue=3|year=2002|pages=331–338|issn=08905096|doi=10.1007/s10016-001-0106-8}}</ref>
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| **Painless mass in the lateral of neck
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| **The mass tends to grow slowly
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| *In case of tumors with greater extension symptoms may include:
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| **[[Horseness]] due to vagus or laryngeal nerve involvement
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| **Involvement of hypoglossal or glossopharyngeal nerves
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| **[[Horner syndrome]] due to the invasion or compression of the cervical sympathetic chain
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| **[[Syncope]] due to possible compression of the carotid sinus or internal carotid artery
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| *Symptoms that may suggest the metastatic activity of the tumor include:
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| **Malaise
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| **Weight loss
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| **Weakness
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| *Symptoms that may suggest the hormonal activity of the tumor include:
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| **Palpitation
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| **Tremor
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| **Headache due to hypertension
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| === Physical Examination === | | === Physical Examination === |
| *Patients with carotid body tumor usually appear pale or diaphoretic.
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| *Physical examination may be remarkable for:
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| '''Palpation'''
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| :*Palpable, painless, rubbery mass along the anterior border of the sternocleidomastoid muscle.<ref name="PatetsiosGable2002">{{cite journal|last1=Patetsios|first1=Peter|last2=Gable|first2=Dennis R.|last3=Garrett|first3=Wilson V.|last4=Lamont|first4=Jeffrey P.|last5=Kuhn|first5=Joseph A.|last6=Shutze|first6=William P.|last7=Kourlis|first7=Harry|last8=Grimsley|first8=Bradley|last9=Pearl|first9=Gregory J.|last10=Smith|first10=Bertram L.|last11=Talkington|first11=C.M.|last12=Thompson|first12=Jesse E.|title=Management of Carotid Body Paragangliomas and Review of a 30-year Experience|journal=Annals of Vascular Surgery|volume=16|issue=3|year=2002|pages=331–338|issn=08905096|doi=10.1007/s10016-001-0106-8}}</ref>
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| :*The tumor moves freely in the horizontal plane at a greater extent than in the vertical plane (‘Fontaine’s sign’).
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| '''Inspection'''
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| :*Limitation on neck range of motion
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| :*Pharyngeal bulge with the displacement of the tonsil, soft palate, and uvula to the opposite side
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| '''Auscultation'''
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| :*Bruit
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| :*[[Murmur|Carotid murmur]]
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| === Laboratory Findings === | | === Laboratory Findings === |
| *There are no specific laboratory findings associated with carotid body tumor.
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| *In some cases, genetic testing may be useful for the detection of familial syndromes related with carotid body tumors.
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| ===Imaging Findings=== | | ===Imaging Findings=== |
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| ==Ultrasound== | | ==Ultrasound== |
| * Two-dimensional [[ultrasound-imaging]], by itself, is not [[diagnostic]], however, it may be helpful in the diagnosis of carotid body tumor.<ref name="StoeckliSchuknecht2002">{{cite journal|last1=Stoeckli|first1=Sandro J.|last2=Schuknecht|first2=Bernhard|last3=Alkadhi|first3=Hatem|last4=Fisch|first4=Ugo|title=Evaluation of Paragangliomas Presenting as a Cervical Mass on Color-Coded Doppler Sonography|journal=The Laryngoscope|volume=112|issue=1|year=2002|pages=143–146|issn=0023-852X|doi=10.1097/00005537-200201000-00025}}</ref>
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| * A [[solid]], well-defined, hypoechoic lesion on [[ultrasound imaging]].
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| * This tumor also causes the displacement of the nearby structures
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| ** The external carotid artery is usually splayed anteriorly
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| ** The internal carotid artery and internal jugular vein are moved posteriorly
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| * On color-doppler ultrasound imaging, the tumor appears hypervascular and the direction of blood flow in the tumor is upward at a greater extent.
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| ** It is of particular note that, although not common, the tumor may not be hypervascular.
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| * The combination of B mode ultrasound imaging and color-doppler sonography has been observed to be diagnostic for this tumor.
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| ==CT scan== | | ==CT scan== |
| *Enhanced CT is the imaging modality of choice for carotid body tumor.
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| *On CT scan, carotid body tumor is characterized by the following findings:<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| :*Soft tissue density on non-contrast CT (similar to muscle)
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| :*Bright and rapid (faster than schwannoma) enhancement
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| :*Splaying of the internal carotid artery and external carotid artery.
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| *Radiological signs for carotid body tumor, include:
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| :*'''Lyre sign''' : defined as the splaying of the internal and external carotid by a carotid body tumour (visible on CT angiography)
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| ==MRI== | | ==MRI== |
| *On MRI, findings of carotid body tumor, include:<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| :*T1: iso to hypointense compared to muscle
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| :*Salt and pepper appearance when larger, representing a combination of punctate regions of haemorrhage or slow flow (salt) and flow voids (pepper)
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| :*Intense enhancement following gadolinium
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| :*T2: hyper intense compared to muscle
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| :*Salt and pepper appearance also seen on T2
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| ====Gallery====
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| <gallery>
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| File:Carotid-body-tumour-8.jpg | MRA of carotid body tumor<ref> Carotid body tumor. Radiopaedia 2015. Case courtesy of Dr Andrew Lawson. http://radiopaedia.org/articles/carotid-body-tumour. Accessed on December 7, 2015</ref>
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| Carotid-body-tumour-on-angiography.jpg | Carotid body tumor angiography<ref>Carotid body tumor angiography. Radiopaedia 2015. Accessed on November 23, 2015. http://radiopaedia.org/articles/carotid-body-tumour</ref>
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| Carotid-body-tumour-1_(1).jpg | CT scan of carotid body tumor.<ref>Carotid body tumor. Dr Yuranga Weerakkody and Assoc Prof Frank Gaillard et al. http://radiopaedia.org/articles/carotid-body-tumour. Accessed on December 7, 2015</ref>
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| </gallery>
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|
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| === Other Diagnostic Studies === | | === Other Diagnostic Studies === |
| *Carotid body tumor may also be diagnosed using [[angiogram]].
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| *Findings on angiogram may include:
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| :*Vascular blush
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| :*Splaying of the carotids
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| == Treatment == | | == Treatment == |
| === Medical Therapy === | | === Medical Therapy === |
| *There is no treatment for carotid body tumor; the mainstay of therapy is supportive care.
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| *Radiotherapy is the treatment of choice for patients without surgery fitness (poor surgical candidates)
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|
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| === Surgery === | | === Surgery === |
| *Surgery is the mainstay of therapy for carotid body tumor.
| | === Prevention === |
| *Transcervical surgery approach in conjunction with embolisation are the most common approaches to the treatment of carotid body tumor.<ref name="wiki">Carotid body tumor. Dr Henry Knipe. Radiopedia. http://radiopaedia.org/articles/carotid-body-tumour Accessed on April 8, 2016</ref>
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| *Stage III Shamblin carotid body tumors (greater than 5 cm) are eligible for surgery only.
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| *The most common surgical complications of carotid body tumors is injury of the superior laryngeal nerve.
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| === Prevention ===
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| *There are no primary preventive measures available for carotid body tumor.
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| ==References== | | ==References== |
| {{Reflist|2}} | | {{Reflist|2}} |
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| [[Category: Oncology]]
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| [[Category:Up-To-Date]]
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| [[Category:Oncology]]
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| [[Category:Medicine]] | | [[Category:Medicine]] |
| [[Category:Vascular medicine]]
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| [[Category:Surgery]]
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| [[Category:Otolaryngology]]
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| [[Category:Neurosurgery]]
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| [[Category:Up-To-Date]]
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| [[Category:Oncology]] | | [[Category:Oncology]] |
| [[Category:Medicine]] | | [[Category:Up-To-Date]] |
| [[Category:Vascular medicine]]
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| [[Category:Surgery]] | | [[Category:Surgery]] |