Disease Directory Glomus Tumor
Oncology

Glomus Tumor

Also known as: paraganglioma of the jugular foramen, glomus jugulare, chemodectoma, SDHD mutation

Prevalence

Less than 1 in 1,000,000

Onset

Adult (3rd–7th decade)

Type

Sporadic or hereditary (SDH gene mutations); autosomal dominant with parent-of-origin effect (SDHD)

Gene

SDHB, SDHD, SDHC

About Glomus Tumor

Head and neck paragangliomas (also historically termed glomus tumours or chemodectomas) are rare, hypervascular neuroendocrine tumours arising from paraganglia associated with the jugular foramen (glomus jugulare), middle ear (glomus tympanicum), carotid bifurcation, or vagal body. Approximately 35–40% are caused by germline mutations in succinate dehydrogenase (SDH) subunit genes — SDHB, SDHC, and SDHD — with SDHD mutations accounting for the majority of hereditary head and neck paragangliomas due to its paternally imprinted expression. SDHB mutations confer the highest risk of malignant behaviour and metastasis among all SDH subtypes.

Common Clinical Features

Pulsatile tinnitus and conductive hearing loss from middle ear or jugular foramen involvement Lower cranial nerve palsies (IX, X, XI, XII) from jugular foramen tumours causing dysphagia, hoarseness, and shoulder weakness Palpable pulsatile neck mass at the carotid bifurcation in carotid body paraganglioma Facial nerve palsy from temporal bone invasion Catecholamine excess (hypertension, headache, palpitations, sweating) in functionally secreting tumours — less common than in adrenal phaeochromocytoma Intracranial extension causing headache, cerebellar signs, or raised intracranial pressure Distant metastases to bone, lung, and lymph nodes, particularly in SDHB-mutant tumours

Clinical Trial Eligibility Tips

What to know before applying to Glomus Tumor trials.

Germline SDH gene sequencing (SDHB, SDHC, SDHD, SDHA, SDHAF2) is essential — SDHB mutation status is the strongest predictor of malignant potential and is frequently a stratification criterion in systemic therapy trials.

Functional imaging with 68Ga-DOTATATE PET-CT (somatostatin receptor scintigraphy) is the preferred staging modality and is often required to document extent of disease before trial enrolment.

Catecholamine and metanephrine secretory status must be assessed and, if elevated, managed with alpha-blockade before any surgical or interventional trial procedures to prevent hypertensive crisis.

Patient Resources

Patient Organization

Pheo Para Alliance

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Natural History Registry

ENSAT-CAP Registry

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Orphanet

European reference resource for rare diseases (ORPHA:99913)

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NORD

National Organization for Rare Disorders

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Find recruiting Glomus Tumor trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Glomus Tumor. Updated daily.

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