Paragangliomas are rare tumors of neural crest origin. They are benign in the majority of cases and are characterized by a strong vascularisation

Davidoff, J.

De Bleser, R.

English

PubMed

Paragangliomas are rare tumors of neural crest origin. They are benign in the majority of cases and are characterized by a strong vascularisation.In the head and neck region they most commonly occur as carotid body tumors. Jugulotympanic and especially vagal paragangliomas are seen less frequently. Complete surgical resection represents the only curative treatment option even though resection of locally advanced tumors regularly results in lesions of the lower cranial nerves and major vessels. Appoximately 30% of all head and neck paragangliomas (HNPs) are hereditary and associated with different tumor syndromes. The paraganglioma syndromes 1, 3 and 4 (PGL 1, 3 and 4) make up the majority of those familial cases. PGL 1 is associated with mutations of the succinate dehydrogenase subunit D (SDHD) gene, PGL 3 is caused by SDHC and PGL 4 by SDHB gene mutations. Multiple HNPs and the occurance of HNPs together with pheochromocytomas are seen in SDHD as well as SDHB mutation carriers. In patients with SDHB mutations the risk for the development of malignant paraganglial tumors is significantly higher compared to SDHC and SDHD patients as well as patients with sporadic tumors. SDHC mutation carriers almost exclusively present with benign HNP that are unifocal in the majority of cases. The role of transmission is autosomal dominant for all three symptoms. Interestingly, there is a "parent-of-origin-dependent-inheritance" in subjects with SDHD gene mutations. This means that the disease phenotype may only become present if the mutation is inherited through the paternal line. We recommend screening for mutations of the genes SDHB, SDHC and SDHD in patients with HNPs. Certain clinical parameters can help to set up the order in which the three genes should be tested

Boedeker, CC

German Medical Science

Paragangliomas and paraganglioma syndromes

RWTH Publications

Optic aphasia : a review of past studies and reappraisal

177Lu-[DOTA0,Tyr3] octreotatetherapyinpatientswithdisseminatedneuroendocrine tumors: Analysis of dosimetry with impact on future therapeutic strategy.

18F-Dopa positron emission tomography for the detection of glomus tumors.

22/26 GMS Current Topics in Otorhinolaryngology - Head and Neck Surgery

A novel mutation in the SDHD gene in a family with inherited paragangliomas -implications of genetic diagnosis for follow-up and treatment. Head Neck.

A role for mitochondrialenzymesininheritedneoplasiaandbeyond.Nature Rev Cancer.

Adrenal sparing surgery for pheochromocytoma.

AG,CornelisseCJ.MultiparameterDNAflow-sortingdemonstrates diploidy and SDHC wild-type gene retention in the sustentacular cell compartment of head and neck paragangliomas: chief cells aretheonlyneoplasticcomponent.JPathol.2004;202:456-462. DOI:

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. Hum Genet.

American Head and Neck Society. Neck dissection classification update: revisions proposed by the American Head and Neck Society and the American Academy of Otolaryngology - Head and Neck Surgery. Arch Otolaryngol Head Neck Surg.

Amputation neuroma of the middle ear mimicking glomus tympanicumtumor.OtolaryngolHeadNeckSurg.2007;137:843-

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol.

Angiographic differential diagnosis of tumors of the glomus caroticum and jugulo-tympanicum and of arteriovenous shunts in the head and neck. Ann Radiol.

Ann Otol Rhinol Laryngol.

Aorticopulmonary paraganglioma and gastric leiomyoblastoma in a young woman.

AuWY,ChanAC,WongKK,LeungCY,LiangR,KwongYL.Multiple osseous metastases from occult paraganglioma: a diagnostic

Baroreflex and chemoreflex function after bilateral carotid body tumor resection.

Beneficial effects of octreotide in a patient with a metastatic paraganglioma.

Benign paragangliomas. Clinical presentation and treatment outcomes in 236 patients.

Bilaterales Paragangliom des Nervus vagus [Bilateral paraganglioma of the vagus nerve].

Carney-Stratakis Syndrome Consortium.

CarneyJA.Gastricstromalsarcoma,pulmonarychondroma,and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc.

Carotid body paraganglioma in a nine-year-old boy with extensive pulmonary metastases. Med Pediatr Oncol.

Carotid body paraganglioma in von Hippel-Lindau disease: a rare association.

Carotid body paraganglioma metastatic to bone: report of two cases. Skeletal Radiol.

Carotid body tumors: the role of preoperative embolization. Ann Vasc Surg.

Carotid body tumour. Clinicopathologic analysis of ninety cases.

Carotidbodytumorsininhabitantsofaltitudeshigherthan2000 meters above sea level. Head Neck.

Cervical paragangliomas - tumor control and long-term functional results after surgery. Skull Base.

Chemodectoma in the dog.

Chemodectoma of the head and neck: Results of treatment in 84 patients.

Chemodectomas of the glomus intravagale and vagal body tumors, non-chromaffin paragangliomas of the nodose ganglion of the vagus nerve. Ann Surg.

ChewSL,ConnellJM,BlundellTL,MacdonaldF,MaherER.Tumor risksandgenotype-phenotype-proteotypeanalysisin358patients with germline mutations in SDHB

Clinical and genetic characterization of pheochromocytoma in von Hippel-Lindau families: comparison with sporadic pheochromocytoma gives insight into natural history of pheochromocytoma.

Clinical and molecular progress in hereditary paraganglioma.

Clinical features of paraganglioma syndromes. Skull Base.

Clinical Predictors for Germline Mutations in Head and Neck Paraganglioma Patients: Cost Reduction Strategy in Genetic Diagnostic Process as Fall-Out. Can Research.

Clinical value of 18F-fluorodihydroxyphenylalanine positron emissiontomography/computedtomography(18F-DOPAPET/CT) for detecting pheochromocytoma.

Combined endovascular and surgical treatment of head and neck paragangliomas - a team approach. Head Neck.

Current status and new developments in ion therapy. Strahlenther Onkol.

Current trends in the detection and management of carotid body tumors. Vasc Surg.

Cytologic findings in carotid body tumors. Acta Cytol.

De La Cruz A. Surgical management of previously untreated glomus jugulare tumors.

Degl'InnocentiD,ConsoleN,BergaminiC,MannelliM.Uncommon clinicalpresentationsofpheochromocytomaandparaganglioma in two different patients affected by two distinct novel VHL germline mutations. Clin Endocrinol (Oxf).

DelGaudioJM,MullerS.Diagnosisandtreatmentofsupraglottic laryngeal paraganglioma: report of a case. Head Neck.

Diagnostic challenges in the fine-needle aspiration diagnosis of carotid body paragangliomas: report of two cases. Diagn Cytopathol.

Die präoperative angiografische Embolisation von Tumoren des Karotisglomus [Preoperative angiographic embolization of carotid glomus tumors. A method for improving operability].

Dignität von Glomuscaroticum-Tumoren:LiteraturübersichtundklinischeErfahrungen [Dignity of carotid body tumors. Review of the literature and clinical experiences].

Early onset renal cell carcinoma as novel extra-paraganglial component of SDHBassociated hereditable paraganglioma.

Editorialcomment:Stereotacticradiosurgeryforglomusjugulare tumor. Head Neck.

Effects of preoperative embolization

Endolymphatic sac tumors: surgical management.

Endoscopic treatment of solitary, bilateral multiple, and recurrent pheochromocytomas and paragangliomas.

Erfahrungen mit der farbkodierten Duplexsonographie im HNO-Bereich [Experiences with colorcoded duplex ultrasound in the ENT area].

European-American Pheochromocytoma Study Group. Clinical and genetic characteristics of patients with neurofibromatosis typeand pheochromocytoma.

EuropeanAmerican Pheochromocytoma Study Group. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res.

Evaluation of paragangliomas presenting as a cervical mass on color-coded doppler sonography.

Evaluation of topography and vascularization of cervical paragangliomas by magnetic resonance imaging and color duplex sonography.

Extracranial glomus faciale tumour.

Facial palsy after glomus jugulare tumour embolization.

Facial palsy after glomus tumour embolization.

Familial and bilateral tumors of the carotid body.

Familial malignant catecholamine-secretingparagangliomawithprolongedsurvival associated with mutation in the succinate dehydrogenase B gene. J Clin Endocrinol Metab.

Familial multiple cervical paragangliomas: reportofakindredandreviewoftheliterature.OtolaryngolHead Neck Surg.

Familial paraganglioma and gastric stromalsarcoma:anewsyndromedistinctfromtheCarneytriad.

Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene.

FerrellRE.AnAlu-mediatedpartialSDHCdeletioncausesfamilial and sporadic paraganglioma.

FischU.Infratemporalfossaapproachforlesionsinthetemporal bone and base of the skull. Adv Otorhinolaryngol.

Foramen-jugulare-Tumoren mit vollständigem Hörerhalt -Mikrochirurgie ohne Transposition des N. facialis [Microsurgical resection of jugular foramen tumors with hearing preservation and without facial nerve palsy].

Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma.

Functioning carotid paraganglioma in the von Hippel-Lindau syndrome.

Gene mutations in thesuccinatedehydrogenasesubunitSDHBcausesusceptibility to familial pheochromocytoma and to familial paraganglioma.

Genetic and clinical investigation of pheochromocytoma: A 22-year experience, from Freiburg, Germany to international effort.

Genetic aspects of nonchromaffin paraganglioma. Hum Genet.

Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet.

Gimenez-Roqueplo AP; PGL.NET network. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

Gimenez-Roqueplo AP. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet.

GimmO,ArmaniosM,DziemaH,NeumannHPH,EngC.Somatic andoccultgermlinemutationsinSDHD,amitochondrialcomplex II gene, in non-familial pheochromocytomas. Cancer Res. 2000;60:6822-6825. 23/26 GMS Current Topics in Otorhinolaryngology - Head and Neck Surgery

Glomus tumor and multiple endocrine neoplasia. Otolaryngol Head Neck Surg.

Glomus tumors: therapeutic role of selective embolization.

Glomustumoren des Felsenbeins -operatives Konzept und Ergebnisse [Glomus tumors of the temporal bone--surgical concept and results].

GMS Current Topics in Otorhinolaryngology - Head and Neck Surgery

Growth factors and cytokines in paragangliomas and pheochromocytomas, with special reference to sustentacular cells. Endocr Pathol.

HarriesK,NunnT,ShahV,RichardsD,MansonJM.Firstreported case of esophageal paraganglioma. A review of the literature of gastrointestinal tract paraganglioma including gangliocytic paraganglioma. Dis Esophagus.

Hauptsymptom: „Pulssynchrones Ohrgeräusch” [Main symptom: &quot;pulsesynchronous tinnitus&quot;].

Head and neck paragangliomas: an overview. Otolaryngol Clin North Am.

Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes.

Hetzel A,BoedekerCC.Von-Hippel-Lindau-Erkrankung:Interdisziplinäre Patientenversorgung[Von-Hippel-Lindaudisease.Interdisciplinary patient care]. Der Ophthalmologe.

Hypotension in a woman with a metastatic dopamine-secreting carotid body tumor. Endocr Pract.

Infratemporal fossa approach for glomus tumors of the temporal bone. Ann Otol Rhinol Laryngol.

JafferS,HarpazN.Mesentericparaganglioma:acasereportand review of the literature. Arch Pathol Lab Med.

JanuszewiczA,EngC,OpocherG,NeumannHPH.Predictorsand prevalence of paraganglioma syndrome associated with mutationsoftheSDHCgene.JAMA.2005;294:2057-2063.DOI:

Jugulotympanale Paragangliome: Therapiekonzepte in der Entwicklung [Jugulotympanic paraganglioma:therapyconceptsunderdevelopment].LaryngoRhino-Otol.

Jugulotympanic paraganglioma (glomus tumour) presenting with recurrent epistaxis.

KargerC,KraftG,WannenmacherM,DebusJ.Resultsofcarbon ion radiotherapy in 152 patients.

Late-onset optic atrophy, ataxia and myopathy associated with a mutation of a complex II gene. Ann Neurol.

Le glomus myo-neuro-arteriel des regions tactiles et ses tumeurs. Lyon chir.

Lethal fibrosarcoma complicatingradiationtherapyforbenignglomusjugularetumor.

LinkMJ,KlineRW,StromeSE,KasperbauerJL,OlsenKD.Glomus jugularetumor:tumorcontrolandcomplicationsafterstereotactic radiosurgery. Head Neck.

Long-term results of surgery fortemporalboneparaganglioma.SkullBaseSurg.1996;6:147-

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Paragangliomas and paraganglioma syndromes

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