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Biomarkers Improving Genetic and Metastatic Disease Prediction in Paraganglioma: Insights From a Prospective Study

Archive ouverte | Drossart, Tom | CCSD

International audience. Abstract Context and Objective Identifying the risk of malignancy and genetic status in primary paraganglioma or pheochromocytoma (PPGL) is a key challenge. The aim was to assess the diagnost...

The MITF, p.E318K variant, as a risk factor for Pheochromocytoma and Paraganglioma

Archive ouverte | Castro-Vega, Luis Jaime | CCSD

Context: The microphthalmia-associated transcription factor (MITF) regulates the survival, proliferation, and differentiation of neural crest-derived lineages. Recent studies reported an increased risk of melanomain individuals ca...

Succinate detection using in vivo 1H-MR spectroscopy identifies germline and somatic SDHx mutations in paragangliomas

Archive ouverte | Lussey-Lepoutre, Charlotte | CCSD

International audience. Purpose: Germline mutations in genes encoding succinate dehydrogenase (SDH) are frequent in patients with pheochromocytoma and paraganglioma (PPGL). They lead to SDH inactivation, mediating a...

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