Summary
Paragangliomas (PGL) are rare tumors, with those of the upper body (head and neck, and especially of the carotid body) being of parasympathetic origin, whereas abdominal PGL originate in the sympathoadrenal neuroendocrine system. The latter is the origin of pheochromocytomas (PCC). Chapter 5 deals with the changes affecting the mitochondrial complex II genes controlling the succinate dehydrogenase enzyme system (SDHB, SDHC, and SDHD) found in familial PGL. However, the preponderant number of PGL is of sporadic origin, and their genetic aspects have not been clearly elucidated. The relation to and association of PCC with some conditions and the role played by their gene such as von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia 2, and neurofibromatosis 1 are presented in Chapter 5. The somewhat limited cytogenetic findings in PGL and PCC are discussed. The results of loss of heterozygosity and comparative genomic hybridization studies for these tumors are presented, and of the molecular aspects of RET, and other genes. Hypotheses on the role of the oxygen status in the development of PGL of the carotid body are included.
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(2008). Paraganglioma and Pheochromocytoma. In: Sandberg, A.A., Stone, J.F. (eds) The Genetics and Molecular Biology of Neural Tumors. Humana Press. https://doi.org/10.1007/978-1-59745-510-7_5
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