Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1204 | Clinical Cases–Pituitary/Adrenal | ECE2015

Familial SDHC mutation associated with prolactin/gh-secreting pituitary adenoma and paraganglioma

Barigou Mohammed , Buffet Alexandre , Bennet Antoine , Pigny Pascal , Bellec Laurent , Caron Philippe , Vezzosi Delphine

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...

ea0090p547 | Adrenal and Cardiovascular Endocrinology | ECE2023

Safe observation of early recurrence of asymptomatic pheochromocytomas in MEN2 patients

Puerto Marie , Buffet Alexandre , Haissaguerre Magalie , Nunes Marie-Laure , Mathilde Duval , Haythem Najah , Amar Laurence , Tabarin Antoine

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...

ea0090s7.3 | Aberrant/illicit expression of receptors in adrenal lesions | ECE2023

LHCG Receptor in pheochromocytoma

Lopez Antoine-Guy , Duparc Celine , Renouf Sylvie , Sabourin Jean-Christophe , Buffet Alexandre , Gimenez-Roqueplo Anne-Paule , Dubessy Christophe , Louiset Estelle , Lefebvre Herve

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...

ea0081oc14.1 | Oral Communications 14: Late Breaking | ECE2022

Expression of luteinizing hormone-chorionic gonadotrophin receptor in pheochromocytomas

Lopez Antoine-Guy , Duparc Celine , Renouf Sylvie , Machevin Elise , Guillou Vincent Le , Sabourin Jean-Christophe , Defortescu Guillaume , Buffet Alexandre , Gimenez-Roqueplo Anne-Paule , Dubessy Christophe , Louiset Estelle , Herve Lefebvre

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...

ea0056oc7.4 | Genomic and clinical aspects of endocrine tumours | ECE2018

Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier (SLC25A11) gene confer predisposition to metastatic paragangliomas

Buffet Alexandre , Morin Aurelie , Castro-Vega Luis-Jaime , Habarou Florence , Lussey-Lepoutre Charlotte , Letouze Eric , Lefebvre Herve , Guilhem Isabelle , Haissaguerre Magalie , Raingeard Isabelle , Padilla-Girola Mathilde , Tran Thi , Tchara Lucien , Bertherat Jerome , Amar Laurence , Ottolenghi Chris , Burnichon Nelly , Gimenez-Roqueplo Anne-Paule , Favier Judith

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<...

ea0063oc5.1 | Adrenal 1 | ECE2019

Positive impact of genetic test on the management and outcome of patients with paraganglioma and/or pheochromocytoma

Buffet Alexandre , Aim Laurene Ben , Leboulleux Sophie , Drui Delphine , Vezzosi Delphine , Libe Rossella , Ajzenberg Christiane , Bernardeschi Daniele , Cariou Bertrand , Chabolle Frederic , Chabre Olivier , Darrouzet Vincent , Delemer Brigitte , Desailloud Rachel , Goichot Bernard , Esvant Annabelle , Offredo Lucile , Herman Philippe , Laboureau Sandrine , Lefebvre Herve , Pierre Peggy , Raingeard Isabelle , Reznik Yves , Sadoul Jean-Louis , Hadoux Julien , Tabarin Antoine , Tauveron Igor , Zenaty Delphine , Favier Judith , Bertherat Jerome , Baudin Eric , Amar Laurence , Gimenez-Roqueplo Anne-Paule

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...