Imaging Features of Succinate Dehydrogenase–deficient Pheochromocytoma-Paraganglioma Syndromes
| Autor: | Dimitra Christodoulou, Rupert Obholzer, Stephen Perrio, Louise Izatt, Anand Velusamy, Audrey Jacques, Paul V. Carroll, Val Lewington, Samuel Joseph Withey |
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| Rok vydání: | 2019 |
| Předmět: |
Pathology
medicine.medical_specialty SDHB Adrenal Gland Neoplasms Pheochromocytoma Neuroendocrine tumors Malignancy 030218 nuclear medicine & medical imaging Mitochondrial Proteins Paraganglioma 03 medical and health sciences 0302 clinical medicine Germline mutation medicine Humans Genetic Predisposition to Disease Radiology Nuclear Medicine and imaging Genetic testing medicine.diagnostic_test business.industry Membrane Proteins medicine.disease Succinate Dehydrogenase 030220 oncology & carcinogenesis Mutation SDHD business |
| Zdroj: | RadioGraphics. 39:1393-1410 |
| ISSN: | 1527-1323 0271-5333 |
| DOI: | 10.1148/rg.2019180151 |
| Popis: | Pheochromocytoma (PC) and paraganglioma (PGL) are rare neuroendocrine tumors that occur throughout the body from the base of the skull to the pelvis. Sympathetic catecholamine-secreting tumors may be associated with hyperadrenergic symptoms and long-term morbidity if they are untreated. Typically biochemically silent, head and neck PGLs may result in cranial nerve palsies and symptoms due to localized mass effect. Tumors can arise sporadically or as part of an inheritable PC-PGL syndrome. Up to 40% of tumors are recognized to be associated with germline mutations in an increasing array of susceptibility genes, including those that appear to arise sporadically. Most commonly, up to 25% of all PC-PGLs are associated with mutations in one of the succinate dehydrogenase (SDH) enzyme subunit genes. The resulting familial PC-PGL syndrome varies according to the affected enzyme subunit (most commonly SDHB and SDHD mutations) with respect to tumor prevalence, location, age of onset, and risk of malignancy. Patients with SDH enzyme mutations have increased lifetime risk of developing multifocal tumors and malignancy. Early recognition of individuals at high risk, genetic testing, screening of family members, and lifelong surveillance programs are recommended, but not without health, economic, and psychologic implications. Anatomic and functional imaging is key to diagnosis, staging, treatment planning, and lifelong surveillance of these individuals. Radiologists must be aware of the imaging appearance of these varied tumors.©RSNA, 2019. |
| Databáze: | OpenAIRE |
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