Article
Domain landscapes of somatic NF1 mutations in pheochromocytoma and paraganglioma.
Gene - 1 Jul 2023
Tabebi Mouna, Frikha Fakher, Volpe Massimiliano, Gimm Oliver, Söderkvist Peter
Abstract excerpt
Pheochromocytoma and paraganglioma (PPGL), are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Up to about 60% are explained by germline or somatic mutations in one of the major known susceptibility genes e.g., inNF1,RET,VHL, SDHx,MAXandHRAS. Targeted Next Generation Sequencing was performed in 14 sporadic tumors using a panel including 26 susceptibility...
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