Pierre-François Plouin
Collège de France
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Featured researches published by Pierre-François Plouin.
Clinical Endocrinology | 2006
Anne-Paule Gimenez-Roqueplo; Hendrik Lehnert; Massimo Mannelli; Hartmut P. H. Neumann; Giuseppe Opocher; Eamonn R. Maher; Pierre-François Plouin
Following recent advances in the genetics of phaeochromocytomas and paragangliomas, the members of the European Network for the Study of Adrenal Tumours (ENS@T) Phaeochromocytoma Working Group have decided to share their genotyping data and to propose European recommendations for phaeochromocytoma/functional paraganglioma (PH/FPGL) genetic testing. Germline DNA from 642 patients was analysed by ENS@T teams. In 166 patients (25·9%) the disease was familial and caused by germline mutations in VHL (56), SDHB (34), SDHD (31), RET (31) or NF1 (14), causing von Hippel‐Lindau disease, SDHB‐ or SDHD‐PH/FPGL syndromes, multiple endocrine neoplasia type 2 (MEN 2) and type 1 neurofibromatosis (NF1), respectively. In almost 60% of inherited cases it was possible to formulate a probable genetic diagnosis based on family history and/or typical syndromic presentation. Genetic testing revealed mutations in 12·7% of cases with an apparently sporadic presentation. Several clinical characteristics, such as young age at onset, the presence of bilateral, extra‐adrenal or multiple tumours or a malignant tumour, should be seen as indications for genetic testing. The ENS@T Phaeochromocytoma Working Group recommends the genetic testing of all patients with PH and FPGL and suggests a practice algorithm for the management of their exploration.
Clinical and Experimental Pharmacology and Physiology | 2008
Anne-Paule Gimenez-Roqueplo; Nelly Burnichon; Laurence Amar; Judith Favier; Xavier Jeunemaitre; Pierre-François Plouin
1 Recent clinical and fundamental research studies have revolutionized our understanding of the genetics of phaeochromocytoma (PH) and functional paraganglioma (FPGL). It was widely thought that only 10% of PH patients had familial disease and that the malignant phenotype of PH could not be diagnosed before occurrence of the first metastasis. 2 Human genetic studies have now shown that 25–30% of patients have hereditary PH due to a germline mutation in the SDHB, SDHD, VHL, RET or NF1 gene and that the identification of a germline SDHB mutation is associated with a high risk of malignancy and a poor prognosis in PH/PGL patients. 3 Fundamental research studies have shown that SDH genes are tumour suppressor genes and that succinate dehydrogenase inactivation induces abnormal stimulation of the hypoxia‐angiogenesis pathway. 4 Finally various fundamental research studies, conducted through the Cortico and Medullo‐surrenale: les Tumeurs Endocrines (COMETE) network in France and by other groups worldwide, have produced new recommendations for genetic counselling and testing and for the management of PH patients. They have also improved our understanding of the molecular mechanisms involved in PH tumorigenesis.
Clinical Endocrinology | 2008
Virginie Médeau; F. Moreau; Ludovic Trinquart; Maud Clemessy; Jean-Louis Wémeau; Marie Christine Vantyghem; Pierre-François Plouin; Yves Reznik
Objectiveu2002 It is unknown why some patients with biochemical evidence of primary aldosteronism (PA) do not develop hypertension. We aimed to compare clinical and biochemical characteristics of normotensive and hypertensive patients with PA.
Best Practice & Research Clinical Endocrinology & Metabolism | 2006
Pierre-François Plouin; Anne-Paule Gimenez-Roqueplo
/data/revues/00034266/v77i3/S000342661630066X/ | 2016
Laurence Amar; Jean Philippe Baguet; Stéphane Bardet; Philippe Chaffanjon; Bernard Chamontin; Claire Douillard; Pierre Durieux; Xaxier Girerd; Philippe Gosse; Anne Hernigou; Daniel Herpin; Pascal Houillier; Xavier Jeunemaitre; Francis Joffre; Jean-Louis Kraimps; H. Lefebvre; Fabrice Menegaux; Claire Mounier-Véhier; Juerg Nussberger; Jean-Yves Pagny; Antoinette Pechère; Pierre-François Plouin; Yves Reznik; Olivier Steichen; Antoine Tabarin; Maria-Christina Zennaro; Franck Zinzindohoue; Olivier Chabre
16th European Congress of Endocrinology | 2014
Gaëlle Lethielleux; Laurence Amar; Pierre-François Plouin; Olivier Steichen
/data/revues/07554982/v43i4sP1/S0755498214000256/ | 2014
Laurence Amar; Aurélien Lorthioir; Alessandra Giavarini; Pierre-François Plouin; Michel Azizi
Archive | 2010
Laurence Amar; Pierre-François Plouin; Olivier Steichen
Archive | 2007
Michel Azizi; Pierre-François Plouin; Laurence Amar
MT. Médecine thérapeutique | 2007
Patrick Rossignol; Laurence Amar; Pierre-François Plouin