Anne-Paule Gimenez-Roqueplo (MD, specialized in Endocrinology, PhD) is Full Professor in the Department of Genetics (Assistance Publique-Hôpitaux de Paris; Hôpital Européen Georges Pompidou) and at Paris Descartes University. She is the leader of an academic research team entitled “Pheochromocytomas and paragangliomas (PCC/PGL), from genetics to molecular targeted therapies” within the INSERM Unit 970 at the Paris Cardiovascular Research Center at HEGP (PARCC@HEGP, Paris, France), which develops a basic, translational and clinical research project dedicated to PCC/PGL
Her group established the genetic testing recommendations for patients with PCC/PGL, demonstrated that the identification of a germline SDHB mutation is the first high risk factor of malignancy and of poor prognosis, showed that SDHx-related PCC/PGL are characterized by a stimulation of the hypoxia-angiogenesis pathway and by a hypermethylator phenotype, and published in 2015 the first integrated genomic analysis of a large series of PCC/PGL collected by the COMETE network. Her group develops an integrative genomic approach and different animal and cellular experimental models of malignant PCC/PGL. Her researches are supported by ANR (National Research Agency), the European Union (FP7 & H2020), INCa (National Cancer Institute) and the Ligue Nationale contre le Cancer (National League Against Cancer, ‘Tumor Identity Cards (CIT)’ Programme).
She is the past chairman of the Pheochromocytoma-Paraganglioma Research Support Organization (PRESSOR), the head of the Pheochromocytoma working group of the European Network for the Study of Adrenal Tumors (ENS@T) and member of the ENS@T steering committee. She coordinates the COMETE network and the French registry for SDH-related paraganglioma (PGL.R).
- Letouzé E, Martinelli C, Loriot C, Burnichon N, Abermil N, Ottolenghi C, Janin M, Menara M, Nguyen AT, Benit P, Buffet A, Marcaillou C, Bertherat J, Amar L, Rustin P, De Reyniès A, Gimenez-Roqueplo AP, Favier J. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell. 2013 Jun 10;23(6):739-52.
- Castro-Vega LJ, Buffet A, De Cubas AA, Cascón A, Menara M, Khalifa E, Amar L, Azriel S, Bourdeau I, Chabre O, Currás-Freixes M, Franco-Vidal V, Guillaud-Bataille M, Simian C, Morin A, Letón R, Gómez-Graña A, Pollard PJ, Rustin P, Robledo M, Favier J, Gimenez-Roqueplo AP. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet. 2014 May 1;23(9):2440-6.
- Castro-Vega LJ, Letouzé E, Burnichon N, Buffet A, Disderot PH, Khalifa E, Loriot C, Elarouci N, Morin A, Menara M, Lepoutre-Lussey C, Badoual C, Sibony M, Dousset B, Libé R, Zinzindohoue F, Plouin PF, Bertherat J, Amar L, de Reyniès A, Favier J, Gimenez-Roqueplo AP. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Nat Commun. 2015 Jan 27;6:6044.
- Favier J, Amar L, Gimenez-Roqueplo AP. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol. 2015 Feb;11(2):101-11.
- Castro-Vega LJ, Lepoutre-Lussey C, Gimenez-Roqueplo AP, Favier J. Rethinking pheochromocytomas and paragangliomas from a genomic perspective. 2015 Jun 1.
Paris Cardiovascular Research Center, PARCC@HEGP,
56 rue Leblanc, Paris, France.
Tel: (33) 153 988 014; Fax: (33) 153 987 952;
Genetics Department, Hôpital européen Georges Pompidou
20-40 rue Leblanc, Paris, France
Tel: (33) 156 093 878; Fax: (33) 156 093 884;