Endocrine Abstracts

Introduction: SDH genes mutations are associated with hereditary phaeochromocytoma and paraganglioma syndromes. We describe the case of a patient with SDHC related familial paraganglioma and pituitary adenoma.Case: A 65-year old man consulted for an incidentally discovered 7 cm abdominal mass on CT-scan, lateral to the right kidney, invading inferior vena cava, associated to a retroperitoneal adenomegaly and a lesion on the body of L2 vertebra with spina...

Controlateral recurrence of pheochromocytoma is frequent in MEN2 patients. Cortical sparing adrenalectomy is currently recommended in this situation, but conveys a risk of adrenal insufficiency in up to 45 % of patients. The natural history of recurrent pheochromocytome is poorly known. Thus, appropriate timing of surgery and the possibility to postpone safely surgery remain debatable. We report our experience of long-term follow up of non-operated 16 pheochromocytomas in 13 M...

Pheochromocytomas/paragangliomas (PPGL) are catecholamine-producing neuroendocrine tumors that account for less than 1% of all hypertension cases. Despite their rarity, these tumors must be early detected and treated to prevent potentially life-threatening adrenergic crises. Unfortunately, PPGL are frequently unrecognized during pregnancy, leading to a high risk of either maternal or fetal complications. In return, pregnancy can trigger catecholamine secretory discharges in pa...

Pheochromocytomas and paragangliomas (PPGL) are catecholamine-producing neuroendocrine tumors that display the highest heritability rate among all human tumors. Genomic analyses revealed the existence of 2 main clusters of PPGL, i.e. cluster 1 containing SDHx- and VHL-mutated tumors which do not produce epinephrine, and cluster 2 including epinephrine-secreting PPGL related to RET, NF1, TMEM127 and MAX mutations. Early diagnosis and treatment of PPGL is crucial to prevent adre...

Integrative genomics studies of paragangliomas (PGL) have shown that PGL susceptibility genes are the main drivers of tumorigenesis. Comprehensive genetic analyses have identified germline SDHB and, to a lesser extent, FH gene mutations, as predominant causes of metastatic PGL. However, some suspicious cases remain unexplained. We performed whole-exome sequencing of a paraganglioma exhibiting an SDHx-like molecular profile in the absence of SDHx<...

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...