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Paragangliomas 1

Synonyms
Glomus tumors familial 1; PARAGANGLIOMAS, FAMILIAL NONCHROMAFFIN, 1; PGL 1; Paraganglioma - glomus jugulare; Paragangliomas familial 1; Paragangliomata; SDHD-Related Hereditary Paraganglioma-Pheochromocytoma Syndrome

Summary

Excerpted from the GeneReview: Hereditary Paraganglioma-Pheochromocytoma Syndromes
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 paragangliomas [HNPGLs]) and sometimes in the upper mediastinum; approximately 95% of such tumors are nonsecretory. In contrast, extra-adrenal sympathetic 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/PCCs 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. Additional tumors reported in individuals with hereditary PGL/PCC syndromes include gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and clear cell renal cell carcinoma.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Tobias Else
Samantha Greenberg
Lauren Fishbein
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Available tests

58 tests are in the database for this condition.

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Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CBT1, CII-4, CWS3, MC2DN3, PGL, PGL1, PPGL1, QPs3, SDH4, cybS, SDHD
    Summary: succinate dehydrogenase complex subunit D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • NCCN, 2023
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Neuroendocrine and Adrenal Tumors, 2023

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