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1. Management of anoperineal lesions in Crohn’s disease: a French National Society of Coloproctology national consensus

Author

F. Pigot, Paul Benfredj, B. Vinson-Bonnet, T. Higuero, Jean-Luc Faucheron, Yves Panis, David Laharie, Dominique Bouchard, Nadia Fathallah, Charlène Brochard, Laurent Siproudhis, Laurent Abramowitz, Ghislain Staumont, V. de Parades, Maison de Santé Protestante Bagatelle, Clinique Saint Jean Languedoc, Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Hôpital Bichat - Claude Bernard, CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire [Grenoble] (CHU), Gestes Medico-chirurgicaux Assistés par Ordinateur (TIMC-IMAG-GMCAO), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Hôpital Beaujon, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon, Institut de Proctologie Léopold bellan, Groupe Hospitalier Paris Saint-Joseph, CHI Poissy-Saint-Germain, Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Clinique Saint-Jean Languedoc [Toulouse] (CSJL), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), and Groupe Hospitalier Paris Saint-Joseph (hpsj)

Subjects
Male, Anal fistula, Crohn’s disease, medicine.medical_specialty, Consensus, [SDV]Life Sciences [q-bio], Anal Canal, Disease, Perineum, 03 medical and health sciences, 0302 clinical medicine, Crohn Disease, medicine, Humans, Rectal Fistula, Societies, Medical, ComputingMilieux_MISCELLANEOUS, Anus Diseases, Crohn's disease, business.industry, General surgery, Gastroenterology, Disease Management, medicine.disease, Abscess, Colorectal surgery, 3. Good health, Treatment, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Treatment strategy, Female, 030211 gastroenterology & hepatology, Surgery, France, business, Colorectal Surgery, Algorithms, Abdominal surgery
Abstract

The French National Society of Coloproctology established national recommendations for the treatment of anoperineal lesions associated with Crohn's disease. Treatment strategies for acute abscesses, active fistulas (active denovo and still active under treatment), fistulas in remission, and rectovaginal fistulas are suggested. Recommendations have been graded following the international recommendations, and when absent, professional agreement has been established. For each situation, practical algorithms have been drawn.

Published
2018
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2. Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient

Author

Dominique Bourgeois, Philippe De Mas, Laurence Bouneau, Romain Molignier, Patrick Calvas, Valentine Marquet, Adeline Vigouroux-Castera, Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], and Clinique Saint-Jean Languedoc [Toulouse] (CSJL)

Subjects
Derivative chromosome, Case Reports, Biology, partial monosomy 21, insertion, 03 medical and health sciences, Chromosome 15, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, medicine, chromosome, deletion, Azoospermia, 030304 developmental biology, Chromosome 7 (human), Genetics, 0303 health sciences, 030305 genetics & heredity, Karyotype, deletion, chromosome, General Medicine, medicine.disease, chromosome 22, karyotype, Chromosome 17 (human), chromosome 21, Chromosome 21, Chromosome 22
Abstract

International audience; We report on a phenotypically normal 41-year-old azoospermic man with a 45 chromosomes karyotype including one normal chromosome 21, one normal chromosome 22, and a der(22)ins(22;21). Array CGH showed a 1.8 Mb terminal deletion of bands 21pter to 21q21.1 and a 341 kb terminal deletion on band 21q22.3.

Published
2015
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3. Bevacizumab Maintenance Versus No Maintenance During Chemotherapy-Free Intervals in Metastatic Colorectal Cancer: A Randomized Phase III Trial (PRODIGE 9)

Author

Stephane Jacquot, Karine Le Malicot, Christian Borel, Julien Taieb, Valérie Boige, Thomas Aparicio, Jean-Marc Phelip, Dominique Genet, Jaafar Bennouna, Laetitia Dahan, Roger Faroux, Etienne Suc, Faiza Khemissa, E. Francois, Côme Lepage, Prodige Investigators, François Ghiringhelli, Patrick Texereau, Françoise Desseigne, Olivier Bouché, Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Sorbonne Paris Cité (USPC), Service de Médecine Nucléaire, Centre Georges-François Leclerc [Dijon] (CGFL), Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER, Institut Gustave Roussy (IGR), Fédération Francophone de la Cancérologie Digestive, FFCD, Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre Hospitalier Universitaire de Reims (CHU Reims), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), Université Côte d'Azur (UCA)-UNICANCER, CRLCC Paul Strauss, Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon, Hôpital de la Timone [CHU - APHM] (TIMONE), Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Polyclinique de Limoges - Site Émailleurs-Colombier [Limoges], Centre Hospitalier Saint Jean de Perpignan, Clinique Saint-Jean Languedoc [Toulouse] (CSJL), Centre Léon Bérard [Lyon], CHU Mont de Marsan, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Institut de Cancérologie de l'Ouest [Angers/Nantes] (UNICANCER/ICO), UNICANCER, université de Bourgogne, LNC, UNICANCER-Université Côte d'Azur (UCA), Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon (CHD Vendée), CHU Saint Louis [APHP], Université Sorbonne Paris Cité ( USPC ), Service de Médecine Nucléaire, Centre Georges-François Leclerc [Dijon] ( CGFL ), Centre Régional de Lutte contre le cancer - Centre Georges-François Leclerc ( CRLCC - CGFL ), Institut Gustave Roussy ( IGR ), Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Centre Hospitalier Universitaire de Reims ( CHU Reims ), Centre Hospitalier Universitaire de Saint-Etienne ( CHU de Saint-Etienne ), CRLCC Antoine Lacassagne, Hôpital de la Timone [CHU - APHM] ( TIMONE ), Institut de recherche en cancérologie de Montpellier ( IRCM ), Université Montpellier 1 ( UM1 ) -CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Montpellier ( UM ), Clinique Saint Jean Languedoc, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), and Institut de Cancérologie de l'Ouest

Subjects
0301 basic medicine, Oncology, Male, Cancer Research, medicine.medical_specialty, Time Factors, Bevacizumab, Colorectal cancer, medicine.medical_treatment, [SDV.CAN]Life Sciences [q-bio]/Cancer, Disease-Free Survival, [ SDV.CAN ] Life Sciences [q-bio]/Cancer, law.invention, 03 medical and health sciences, 0302 clinical medicine, Antineoplastic Agents, Immunological, [SDV.CAN] Life Sciences [q-bio]/Cancer, Randomized controlled trial, law, Internal medicine, medicine, Humans, Neoplasm Metastasis, Aged, Chemotherapy, business.industry, Induction chemotherapy, Induction Chemotherapy, Middle Aged, medicine.disease, 3. Good health, Irinotecan, Regimen, 030104 developmental biology, Fluorouracil, 030220 oncology & carcinogenesis, Female, business, Colorectal Neoplasms, Metastatic Colorectal Cancer, medicine.drug
Abstract

Purpose Conflicting results are reported for maintenance treatment with bevacizumab during chemotherapy-free intervals (CFI) in metastatic colorectal cancer after induction chemotherapy. Patients and Methods In this open-label, phase III, randomized controlled trial, we compared the tumor control duration (TCD) observed with bevacizumab maintenance and with no treatment (observation) during CFI subsequent to induction chemotherapy with 12 cycles of fluorouracil, leucovorin, and irinotecan plus bevacizumab. After disease progression, the induction regimen was repeated for eight cycles, followed by a new CFI. Results From March 2010 to July 2013, 491 patients were randomly assigned. Disease progression or death occurred during induction chemotherapy in 85 patients (17%); 261 patients (53%) had at least one reinduction, 107 (22%) had two reinductions, and 56 (11%) had three or more reinductions. The median TCD was 15 months in both groups; the median progression-free survival (PFS) from randomization was 9.2 and 8.9 months in the maintenance group and observation groups, respectively. The TCD observed in both groups was higher compared with the TCD hypotheses of the trial. The median overall survival (OS) was 21.7 and 22.0 months in the maintenance and observation groups, respectively. In the per-protocol population, defined as patients with at least one reinduction after the first progression, the median duration of the first CFI was 4.3 months in both arms; the median TCD was 17.8 and 23.3 months ( P = .339), the median PFS was 9.9 and 9.5 months, and the median OS was 27.6 and 28.5 months in the maintenance and observation groups, respectively. Multivariable analysis revealed that female gender, WHO performance status ≥ 2, and unresected primary tumors were associated with a shorter TCD. Conclusion Bevacizumab maintenance monotherapy did not improve TCD, CFI duration, PFS, or OS.

Published
2018
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4. Anoperineal lesions in Crohn’s disease: French recommendations for clinical practice

Author

Laurent Siproudhis, Ghislain Staumont, A. Senéjoux, Yves Panis, Léon Maggiori, Charlène Brochard, Guillaume Bouguen, M. Eleouet-Kaplan, Nadia Fathallah, F. Pigot, J.-M. Suduca, B. Vinson-Bonnet, V. de Parades, Jean-Luc Faucheron, Jean-David Zeitoun, Alain Dabadie, P. Roumeguère, Laurent Abramowitz, Dominique Bouchard, Maison de Santé Protestante Bagatelle, Hôpital Bichat - Claude Bernard, CHU Pontchaillou [Rennes], Institut de Proctologie Léopold bellan, Groupe Hospitalier Paris Saint-Joseph (hpsj), CHU Grenoble, Gestes Medico-chirurgicaux Assistés par Ordinateur (TIMC-IMAG-GMCAO), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Hôpital Beaujon, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique Tivoli Ducos [Bordeaux], CHP Saint Grégoire, Foie, métabolismes et cancer, Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Clinique Saint-Jean Languedoc [Toulouse] (CSJL), CHI Poissy-Saint-Germain, Groupe Hospitalier Diaconesses Croix Saint-Simon, Groupe Hospitalier Paris Saint-Joseph, Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Jonchère, Laurent

Subjects
Male, Crohn’s disease, medicine.medical_treatment, Fistula, Anal Canal, Recommendations, Perineum, 0302 clinical medicine, Crohn Disease, Anal stenosis, Digestive System Surgical Procedures, Crohn's disease, medicine.diagnostic_test, Gastroenterology, Colostomy, Anal fistulas, Anus Neoplasms, Combined Modality Therapy, Colorectal surgery, Abscess, 3. Good health, Treatment Outcome, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, Drainage, Female, 030211 gastroenterology & hepatology, France, Adult, Anal fistula, medicine.medical_specialty, Consensus, Anoperineal lesions, Physical examination, Guidelines, 03 medical and health sciences, Gastrointestinal Agents, medicine, Humans, Rectal Fistula, Tumor Necrosis Factor-alpha, business.industry, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Evidence-based medicine, medicine.disease, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Surgery, business
Abstract

International audience; Background: Anoperineal lesion (APL) occurrence is a significant event in the evolution of Crohn’s disease (CD). Management should involve a multidisciplinary approach combining the knowledge of the gastroenterologist, the colorectal surgeon and the radiologist who have appropriate experience in this area. Given the low level of evidence of available medical and surgical strategies, the aim of this work was to establish a French expert consensus on management of anal Crohn’s disease. These recommendations were led under the aegis of the Société Nationale Française de Colo-Proctologie (SNFCP). They report a consensus on the management of perianal Crohn’s disease lesions, including fistulas, ulceration and anorectal stenosis and propose an appropriate treatment strategy, as well as sphincter-preserving and multidisciplinary management.Methodology: A panel of French gastroenterologists and colorectal surgeons with expertise in inflammatory bowel diseases reviewed the literature in order to provide practical management pathways for perianal CD. Analysis of the literature was made according to the recommendations of the Haute Autorité de Santé (HAS) to establish a level of proof for each publication and then to propose a rank of recommendation. When lack of factual data precluded ranking according to the HAS, proposals based on expert opinion were written. Therefore, once all the authors agreed on a consensual statement, it was then submitted to all the members of the SNFCP. As initial literature review stopped in December 2014, more recent European or international guidelines have been published since and were included in the analysis.Results: MRI is recommended for complex secondary lesions, particularly after failure of previous medical and/or surgical treatments. For severe anal ulceration in Crohn’s disease, maximal medical treatment with anti-TNF agent is recommended. After prolonged drainage of simple anal fistula by a flexible elastic loop or loosely tied seton, and after obtaining luminal and perineal remission by immunosuppressive therapy and/or anti-TNF agents, the surgical treatment options to be discussed are simple seton removal or injection of the fistula tract with biological glue. After prolonged loose-seton drainage of the complex anal fistula in Crohn’s disease, and after obtaining luminal and perineal remission with anti-TNF ± immunosuppressive therapy, surgical treatment options are simple removal of seton and rectal advancement flap. Colostomy is indicated as a last option for severe APL, possibly associated with a proctectomy if there is refractory rectal involvement after failure of other medical and surgical treatments. The evaluation of anorectal stenosis of Crohn’s disease (ARSCD) requires a physical examination, sometimes under anesthesia, plus endoscopy with biopsies and MRI to describe the stenosis itself, to identify associated inflammatory, infectious or dysplastic lesions, and to search for injury or fibrosis of the sphincter. Therapeutic strategy for ARSCD requires medical–surgical cooperation.

Published
2017
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5. Prognostic Factors for Survival in Noncastrate Metastatic Prostate Cancer: Validation of the Glass Model and Development of a Novel Simplified Prognostic Model

Author

Claude El Kouri, Marjorie Baciuchka, Gael Deplanque, Michel Soulié, Loic Mourey, Jean-Pascal Machiels, Brigitte Laguerre, Jochen Walz, Jean-Marie Boher, Patricia Marino, Jean-Marc Ferrero, Guilhem Bousquet, Jérôme Dauba, Stéphane Oudard, Philippe Beuzeboc, Claude Linassier, Christine Theodore, Florence Joly, Ivan Krakowski, Frederic Rolland, Jean-François Berdah, Alain Ravaud, Karim Fizazi, Remy Delva, Gwenaelle Gravis, Muriel Habibian, Igor Latorzeff, Ali Hasbini, Damien Pouessel, Sylvie Zanetta, Christian Platini, Jean-Christophe Eymard, Jean-Luc Labourey, Etienne Suc, Franck Priou, Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), Sciences Economiques et Sociales de la Santé & Traitement de l'Information Médicale (SESSTIM - U1252 INSERM - Aix Marseille Univ - UMR 259 IRD), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Gustave Roussy (IGR), Université Paris-Sud - Paris 11 (UP11), Oncologie génito-urinaire, Département de médecine oncologique [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Hôpital Côte de Nacre [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon (CHD Vendée), Clinique Pasteur [Toulouse], Centre Paul Papin, CRLCC Paul Papin, Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), UNICANCER, Centre Eugène Marquis (CRLCC), CRLCC René Gauducheau, Hôpital Foch [Suresnes], Centre hospitalier Saint-Joseph [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), CRLC Val d'Aurelle-Paul Lamarque, CRLCC Val d'Aurelle - Paul Lamarque, Institut Claudius Regaud, Institut Curie [Paris], Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), Hôpital de Toulon/Hyères - Sainte Marguerite [Hyères] (HTH-SM), Centre Hospitalier Layné, Hôpital de la Timone [CHU - APHM] (TIMONE), Centre hospitalier régional Metz-Thionville (CHR Metz-Thionville), Hôpital Bretonneau, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Hôpital Dupuytren [CHU Limoges], Université Catholique de Louvain = Catholic University of Louvain (UCL), Centre Catherine-de-Sienne [Nantes] (CCS), Hôpital Saint-André, Clinique Saint-Jean Languedoc [Toulouse] (CSJL), Institut Jean Godinot [Reims], Clinique Armoricaine de Radiologie [St. Brieuc], Hopital Saint-Louis [AP-HP] (AP-HP), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Paris Descartes - Paris 5 (UPD5), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), CHD Vendée - Hôpital Les Oudairies [La Roche sur Yon], Centre Alexis Vautrin [Vandoeuvre-lès-Nancy], Université Côte d'Azur (UCA)-UNICANCER, Hôpital de Rangueil, CHU Toulouse [Toulouse], UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie, UCL - (SLuc) Unité d'oncologie médicale, and Malbec, Odile

Subjects
Male, Oncology, Time Factors, [SDV]Life Sciences [q-bio], Kaplan-Meier Estimate, Docetaxel, Androgen deprivation therapy, Prostate cancer, Risk Factors, Antineoplastic Combined Chemotherapy Protocols, Medicine, Prospective Studies, 10. No inequality, 2. Zero hunger, education.field_of_study, Univariate analysis, Hazard ratio, Noncastrate, Middle Aged, 3. Good health, [SDV] Life Sciences [q-bio], Treatment Outcome, Lymphatic Metastasis, Metastatic, Taxoids, France, medicine.drug, medicine.medical_specialty, Antineoplastic Agents, Hormonal, Urology, Population, Bone Neoplasms, Adenocarcinoma, Prognostic factors, Risk Assessment, Decision Support Techniques, Predictive Value of Tests, Internal medicine, Alkaline phosphatase, Biomarkers, Tumor, Humans, education, Aged, Proportional Hazards Models, Performance status, business.industry, Prostatic Neoplasms, Reproducibility of Results, Androgen Antagonists, medicine.disease, Confidence interval, Surgery, Nomograms, business, Orchiectomy
Abstract

BACKGROUND: The Glass model developed in 2003 uses prognostic factors for noncastrate metastatic prostate cancer (NCMPC) to define subgroups with good, intermediate, and poor prognosis. OBJECTIVE: To validate NCMPC risk groups in a more recently diagnosed population and to develop a more sensitive prognostic model. DESIGN, SETTING, AND PARTICIPANTS: NCMPC patients were randomized to receive continuous androgen deprivation therapy (ADT) with or without docetaxel in the GETUG-15 phase 3 trial. Potential prognostic factors were recorded: age, performance status, Gleason score, hemoglobin (Hb), prostate-specific antigen, alkaline phosphatase (ALP), lactate dehydrogenase (LDH), metastatic localization, body mass index, and pain. OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: These factors were used to develop a new prognostic model using a recursive partitioning method. Before analysis, the data were split into learning and validation sets. The outcome was overall survival (OS). RESULTS AND LIMITATIONS: For the 385 patients included, those with good (49%), intermediate (29%), and poor (22%) prognosis had median OS of 69.0, 46.5 and 36.6 mo (p=0.001), and 5-yr survival estimates of 60.7%, 39.4%, and 32.1%, respectively (p=0.001). The most discriminatory variables in univariate analysis were ALP, pain intensity, Hb, LDH, and bone metastases. ALP was the strongest prognostic factor in discriminating patients with good or poor prognosis. In the learning set, median OS in patients with normal and abnormal ALP was 69.1 and 33.6 mo, and 5-yr survival estimates were 62.1% and 23.2%, respectively. The hazard ratio for ALP was 3.11 and 3.13 in the learning and validation sets, respectively. The discriminatory ability of ALP (concordance [C] index 0.64, 95% confidence interval [CI] 0.58-0.71) was superior to that of the Glass risk model (C-index 0.59, 95% CI 0.52-0.66). The study limitations include the limited number of patients and low values for the C-index. CONCLUSION: A new and simple prognostic model was developed for patients with NCMPC, underlying the role of normal or abnormal ALP. PATIENT SUMMARY: We analyzed clinical and biological factors that could affect overall survival in noncastrate metastatic prostate cancer. We showed that normal or abnormal alkaline phosphatase at baseline might be useful in predicting survival.

Published
2015
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6. Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

Author

Antoine Moulignier, Fabio Pizza, Dominique Bonneau, Pascal Reynier, Ghislaine Ducos, Alessandro Achilli, Maria Lucia Valentino, Sascha Fauser, Anna Maria De Negri, Patrizia Amati-Bonneau, Federico Sadun, Massimo Zeviani, Maria Pala, Christophe Orssaud, Beate Leo-Kottler, Rocco Liguori, Luisa Iommarini, Baharak Hooshiar Kashani, Bernd Wissinger, Valerio Carelli, Chiara La Morgia, Anna Olivieri, Piero Barboni, Hélène Dollfus, Vincent Procaccio, Antonio Torroni, Achilli A., Iommarini L., Olivieri A., Pala M., Hooshiar Kashani B., Reynier P., La Morgia C., Valentino M.L., Liguori R., Pizza F., Barboni P., Sadun F., De Negri A.M., Zeviani M., Dollfus H., Moulignier A., Ducos G., Orssaud C., Bonneau D., Procaccio V., Leo-Kottler B., Fauser S., Wissinger B., Amati-Bonneau P., Torroni A., Carelli V., Università degli Studi di Perugia (UNIPG), Università degli Studi di Bologna, Università di Pavia, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Les Hôpitaux Universitaires de Strasbourg (HUS), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Clinique Saint-Jean Languedoc [Toulouse] (CSJL), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), University Clinics Tuebingen [Germany], and University of Cologne

Subjects
Mitochondrial Diseases, [SDV]Life Sciences [q-bio], lcsh:Medicine, Q1, medicine.disease_cause, Mitochondrial/genetics, Haplogroup, Conserved sequence, polymorphism, 0302 clinical medicine, mtDNA, LHON, haplogroup, Leber/genetics, Genome Sequencing, lcsh:Science, Conserved Sequence, Phylogeny, Genetics, Leber, 0303 health sciences, Mutation, education.field_of_study, Multidisciplinary, Leber's hereditary optic neuropathy, Genomics, Mitochondrial, 3. Good health, Hereditary, Neurology, Medicine, Conserved Sequence/genetics, Polymorphism, Restriction Fragment Length, Research Article, Leber's Hereditary Optic Neuropathy, Mitochondrial DNA, congenital, hereditary, and neonatal diseases and abnormalities, Mutation/genetics, Amino Acid Sequence, Base Sequence, DNA, Mitochondrial, Family, Humans, Mitochondrial Proteins, Molecular Sequence Data, Optic Atrophy, Hereditary, Leber, Sequence Alignment, Species Specificity, Population, Biology, pathogenic mutation, rare mutations, Leber Hereditary Optic Neuropathy, 03 medical and health sciences, medicine, Mitochondrial Proteins/chemistry/genetics, education, QH426, Gene, 030304 developmental biology, Clinical Genetics, Point mutation, lcsh:R, nutritional and metabolic diseases, Genetic Variation, Human Genetics, DNA, medicine.disease, eye diseases, Optic Atrophy, Restriction Fragment Length, Genetics of Disease, Neuro-Ophthalmology, lcsh:Q, 030217 neurology & neurosurgery
Abstract

International audience; BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited blinding disorder, which in over 90% of cases is due to one of three primary mitochondrial DNA (mtDNA) point mutations (m.11778G>A, m.3460G>A and m.14484T>C, respectively in MT-ND4, MT-ND1 and MT-ND6 genes). However, the spectrum of mtDNA mutations causing the remaining 10% of cases is only partially and often poorly defined. METHODOLOGY/PRINCIPAL FINDINGS: In order to improve such a list of pathological variants, we completely sequenced the mitochondrial genomes of suspected LHON patients from Italy, France and Germany, lacking the three primary common mutations. Phylogenetic and conservation analyses were performed. Sixteen mitochondrial genomes were found to harbor at least one of the following nine rare LHON pathogenic mutations in genes MT-ND1 (m.3700G>A/p.A132T, m.3733G>A-C/p.E143K-Q, m.4171C>A/p.L289M), MT-ND4L (m.10663T>C/p.V65A) and MT-ND6 (m.14459G>A/p.A72V, m.14495A>G/p.M64I, m.14482C>A/p.L60S, and m.14568C>T/p.G36S). Phylogenetic analyses revealed that these substitutions were due to independent events on different haplogroups, whereas interspecies comparisons showed that they affected conserved amino acid residues or domains in the ND subunit genes of complex I. CONCLUSIONS/SIGNIFICANCE: Our findings indicate that these nine substitutions are all primary LHON mutations. Therefore, despite their relative low frequency, they should be routinely tested for in all LHON patients lacking the three common mutations. Moreover, our sequence analysis confirms the major role of haplogroups J1c and J2b (over 35% in our probands versus 6% in the general population of Western Europe) and other putative synergistic mtDNA variants in LHON expression.

Published
2012
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7. Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Type 2 Caused by Mitofusin 2 Mutations

Author

Marie-Christine Arne-Bes, Franck Sturtz, Corinne Magdelaine, Benoît Funalot, Brigitte Gilbert-Dussardier, Jean-Michel Vallat, Judith Calvo, Annick Toutain, Laurent Magy, Karima Ghorab, Marie-Christine Minot-Myhie, Claire Guillou, Jean-Pierre Carrière, Robert A. Ouvrier, Pierre Bouche, Philippe De Mas, Hubert Journel, Leila Lazaro, Service de Neurologie [CHU Limoges], CHU Limoges, Centre de référence national neuropathies périphériques rares [CHU Limoges], Intituto de neurologia, Universidad de la República [Montevideo] (UCUR), Biomolécules Thérapies anti-tumorales (EA4021), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503), Service de Biochimie et Génétique Moléculaire [CHU Limoges], Institute of Neuromuscular Research, Westmead Hospital [Sydney], Département de médecine de l'enfant et de l'adolescent, Service de génétique [Tours], Hôpital Bretonneau-Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Consultation de génétique, Clinique Saint-Jean Languedoc [Toulouse] (CSJL), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Genetique medicale, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Neurologie et Explorations Fonctionnelles du Système Nerveux [Toulouse], Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Service de neurologie pédiatrique, Génétique Médicale, Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA)-Hôpital Chubert, Service de rééducation fonctionnelle, and Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau

Subjects
Male, Pathology, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, medicine.disease_cause, Severity of Illness Index, GTP Phosphohydrolases, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Genotype, Missense mutation, Child, Genes, Dominant, 0303 health sciences, Mutation, education.field_of_study, Middle Aged, 3. Good health, Phenotype, Child, Preschool, Connexin 32, Female, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Hereditary motor and sensory neuropathy, Adult, Genetic Markers, medicine.medical_specialty, Adolescent, Mutation, Missense, Genes, Recessive, Biology, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Arts and Humanities (miscellaneous), Molecular genetics, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], medicine, Humans, education, 030304 developmental biology, Aged, [SDV.GEN]Life Sciences [q-bio]/Genetics, Myelin protein zero, Membrane Proteins, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, medicine.disease, Peripheral neuropathy, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurology (clinical), 030217 neurology & neurosurgery
Abstract

International audience; Background: Mutations in the gene encoding mito- fusin 2 (MFN2) cause Charcot-Marie-Tooth disease type 2 (CMT2), with heterogeneity concerning severity and associated clinical features. Objective: To describe MFN2 mutations and associ- ated phenotypes in patients with hereditary motor and sensory neuropathy (HMSN). Design: Direct sequencing of the MFN2 gene and clini- cal investigations of patients with MFN2 mutations. Setting: Molecular genetics laboratory of a university hospital and the LimogesNational Referral Center for Rare Peripheral Neuropathies. Patients: One hundred fifty index patients with HMSN and amedianmotor nerve conduction velocity of 25m/s or greater and without mutations in the genes encoding connexin 32 and myelin protein zero. Main Outcome Measures: Results of genetic analy- ses and phenotypic observations. Results: Twenty different missense mutations were identified in 20 index patients. Mutation frequency was 19 of 107 (17.8%) in patients with CMT2 and 1 of 43 (2.3%) in patients with a median motor nerve conduc- tion velocity less than 38 m/s. Four patients had proven de novo mutations, 8 families had autosomal dominant inheritance, and 3 had autosomal recessive inheritance. The remaining 5 patients were sporadic cases with het- erozygous mutations. Phenotypes varied from mild forms to early-onset severe forms. Additional features were encountered in 8 patients (32%). Six patients un- derwent sural nerve biopsy: electronic microscopy showed prominent mitochondrial abnormalities on longitudinal sections. Conclusions: MFN2 mutations are a frequent cause of CMT2, with variable severity and either dominant or recessive inheritance. MFN2 gene testing must be a first-line analysis in axonal HMSN irrespective of the mode of inheritance or the severity of the peripheral neuropathy.

Published
2009

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