Paraganglioma

Definition:

Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. The pathogenesis and progression of PGLs are very strongly influenced by genetics.

References:

[1]. Alexandre Buffet, et al. Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas. Cancer Res. 2018 Apr 15;78(8):1914-1922. [Content Brief]

[2]. Huai-Xiang Hao, et al. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science. 2009 Aug 28;325(5944):1139-42. [Content Brief]

[3]. Judith Favier, et al. Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Horm Res. 2005;63(4):171-9. [Content Brief]

[4]. Judith Favier, et al. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol. 2015 Feb;11(2):101-11. [Content Brief]

[5]. Laura Remacha, et al. Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas. Am J Hum Genet. 2019 Apr 4;104(4):651-664. [Content Brief]

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