Molecular Biology of Pheochromocytomas and Paragangliomas

摘要: Pheochromocytomas and paragangliomas are catecholamine-secreting neural crest-derived tumors that arise from the adrenal medulla or extraadrenal sympathetic paraganglia, respectively. These genetically heterogeneous an increasing fraction can be caused by germline mutations in at least six distinct genes, a finding has challenged old paradigms of pheochromocytoma biology. In this chapter, we discuss various hereditary cause paraganglioma, describe recent molecular genomic advances uncovering pathogenic signals responsible for tumorigenesis. Similarities amongst genetic forms these being revealed which traced back to developing crest. Despite signaling overlaps, well-established as well emerging genotype–phenotype correlations different imply unique features each gene carries translational relevance. Current evidence suggests existence additional susceptibility genes might account undefined pheochromocytomas paragangliomas. The progress years understanding disease pathogenesis is expected improve patient screening and, long term, translated into broader therapeutic options.