AI Article Synopsis
- Pheochromocytomas (PCCs) are rare tumors from adrenal gland cells, while paragangliomas (PGLs) are similar tumors found outside the adrenal glands.
- These tumors are often associated with genetic syndromes like MEN, VHL, and NF-1, and about 60% of patients have genetic changes linked to these conditions.
- The review covers the clinical syndromes related to PCCs and PGLs, along with recommendations for genetic screening and testing strategies to diagnose and manage these tumors effectively.
Article Abstract
Pheochromocytomas (PCCs) are rare neuroendocrine tumors that originate from chromaffin cells of the adrenal medulla, and paragangliomas (PGLs) are extra-adrenal pheochromocytomas. These can be mainly found in clinical syndromes including multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL) syndrome, neurofibromatosis-1 (NF-1) and familial paraganglioma (FPGL). PCCs and PGLs are thought to have the highest degree of heritability among human tumors, and it has been estimated that 60% of the patients have genetic abnormalities. This review provides an overview of the clinical syndrome and the genetic screening strategies of PCCs and PGLs. Comprehensive screening principles and strategies, along with specific screening based on clinical symptoms, biochemical tests and immunohistochemistry, are discussed.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308242 | PMC |
| http://dx.doi.org/10.15586/jkcvhl.2018.113 | DOI Listing |
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