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1. Very short insertions in the FLT3 gene are of therapeutic significance in acute myeloid leukemia

Author

Norman, Abbou, Sara, Addakiri, Louis, Adje Missa, Lucille, Altounian, Chloé, Arfeuille, Amélie, Bachelot, Fanny, Baran-Marszak, Kildie, Barrial, Anne, Barthel, Martine, Becker, Emmanuel, Beillard, Graziella, Bernier, Annaëlle, Beucher, Odile, Blanchet, Pauline, Blateau, Julliane, Bloch, Lara, Boucher, Marie-Laure, Boulland, Anne, Bouvier, Simon, Bouzy, Claire, Bracquemart, Clotilde, Bravetti, Chantal, Brouzes, Patricia, Brugel, Serge, Carillo, Bruno, Cassinat, Hélène, Cave, Aurélie, Caye-Eude, Jean-Michel, Cayuela, Carole, Charlot, Aurélie, Chauveau, Sara, Chikhi, Lionel, Chollet, Jean-Claude, Chomel, Emmanuelle, Clappier, Alexis, Claudel, Pascale, Cornillet Lefebvre, Laurane, Cottin, Marie-Magdelaine, Coude, Vincent, Cussac, Bérangère, Dadone-Montaudie, Frédéric, Davi, Véronique, De Mas, Agathe, Debliquis, Matthieu, Decamp, Sabine, Defasque, Michaël, Degaud, Marlene, Dejean, Eric, Delabesse, Hervé, Delacour, Marie-Hélène, Delfau-Larue, Anne, Desmares, Marion, Divoux, Natacha, Doumbadze, Julie, Dremaux, Bernard, Drenou, Stéphanie, Dulucq, Coraline, Dumont, Manon, Duprat, Valérie, Duranton-Tanneur, Marie-Hélène, Estienne, Pascaline, Etancelin, Lisa, Faucheux, Laurène, Fenwarth, Carole, Fleury, Elise, Fournier, Chloé, Friedrich, Xavier, Fund, Nathalie, Gachard, Jean-Baptiste, Gaillard, Coralie, Giot, Valérie, Goncalves, Nathalie, Grardel, Brigitte, Gubler, Yacine, Haddad, Mehdi, Hage Sleiman, Sandrine, Hayette, Claire, Hirschauer, Sarah, Huet, Carole, Humbert, Antoine, Ittel, Sophie, Kaltenbach, Sébastien, Lachot, Sophy, Laibe, Grégory, Lazarian, Valoris, Le Brun, Christelle, Le Sciellour, Benjamin, Lebecque, Isabelle, Lemaire, Melchior, Le Mene, Christine, Lespinasse, Ludovic, Lhermitte, Laurence, Lode, Damien, Luque Paz, Cyril, Maingourd, Elsa, Maitre, Mansier, Olivier, Alice, Marceau-Renaut, Angelique, Marcon, Mélanie, Martin-Gourier, Christophe, Marzac, Claire, Mauduit, Lucie, Maurice, Audrey, Menard, Jean-Philippe, Merlio, Yannick, Miguet Laurent, Djamia, Mokrane, Nathalie, Monhoven, Marie-Joelle, Mozziconacci, Marc, Muller, Anne, Murati-Zeller, Dina, Naguib, Rajiv, Narayanin, Olivier, Nibourel, Pauline, Noyel, Jennifer, Osman, Cédric, Pastoret, Agathe, Paubel, Anne, Perdrix, Benjamin, Podvin, Benoit, Quilichini, Anna, Raimbault, Thimali, Ranaweera Arachchige, Noémie, Ravalet, Julie, Renard, Aline, Renneville, Florian, Renosi, Bénédicte, Ribourtout, David, Rizzo, Camille, Rottier, Léa, Ryffel, Ivan, Sloma, Brigitte, Soubeyran, Nathalie, Sorel, Marc, Spentchian, Assia, Taleb, Thomas, Tassin, Andrei, Tchirkov, Giulia, Tueur, Valérie, Ugo, Laurent, Vallat, Lauren, Veronese, Patrick, Villarese, Margaux, Wiber, Loria, Zalmaï, Tamburini, Jerome, Mouche, Sarah, Larrue, Clement, Duployez, Nicolas, Bidet, Audrey, Salotti, Auriane, Hirsch, Pierre, Rigolot, Lucie, Carras, Sylvain, Templé, Marie, Favale, Fabrizia, Flandrin-Gresta, Pascale, Le Bris, Yannick, Alary, Anne-Sophie, Mauvieux, Laurent, Tondeur, Sylvie, Delabesse, Eric, Delhommeau, François, Sujobert, Pierre, and Kosmider, Olivier

Published
2023
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2. <scp>rFVIII‐Fc</scp> in severe haemophilia A: The incentive switch in case of high risk of joint bleedings

Author

Valérie Horvais, Matthieu Wargny, Yohann Repessé, Benoît Guillet, Philippe Beurrier, Laurent Ardillon, Brigitte Pan‐Petesch, Vincent Cussac, Marc Trossaërt, Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), École des Hautes Études en Santé Publique [EHESP] (EHESP), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-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 ), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Le Mans (CH Le Mans), and Sobi as part of an Investigator Sponsored Study (ISS)

Subjects
Motivation, Recombinant Fusion Proteins, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Hemorrhage, haemophilia A, General Medicine, Hemophilia A, Biochemistry, Recombinant Proteins, healthcare claims administrative database, factor VIII, prolonged-action preparations, Hemarthrosis, Humans, observational study, Retrospective Studies
Abstract

International audience; Background Efmoroctocog alfa, the first recombinant factor VIII fusion protein with extended half-life (rFVIII-Fc), has been hypothesized to lower FVIII consumption in patients with severe Haemophilia A (pwSHA), without reducing clinical efficacy. What about real life? Method MOTHIF-II was a noninterventional, multicentre, before/after study, via the collection of retrospective data from July 2015 to June 2016 (called T1), and from July 2017 to June 2018 (called T2), in 7 French haemophilia treatment centres. We examined the prescriptions and dispensations of factor VIII and the Annual Bleeding Rate (ABR), in pwSHA without current inhibitors on prophylaxis, before and after the introduction of rFVIII-Fc. The data gathered from the BERHLINGO research database and from the French Healthcare claims database with a determinist pairing process based on the national unique identification number. Results A total of 156 pwSHA were included in the prescription cohort and 83 in the ABR cohort. For switched patients, the mean amounts of prescribed FVIII were significantly higher during T1 compared to T2 (4333 (2052) vs. 3921 (2029) IU/kg/year/patient, p: 0.028); a significant decrease in their ABR was also observed between T1 and T2 (6.3 (6.0) vs. 4.4 (5.4), p: 0.047). These patients had a more severe bleeding profile centred on haemarthrosis. Conclusion The results are related to those of the pivotal clinical trials for the reduction in FVIII consumption following the switch to rFVIII-Fc, with a significant improvement in the haemorrhagic phenotype for pwSHA.

Published
2022

3. Efficacy and safety of a recombinant Von Willebrand Factor treatment in patients with inherited Von Willebrand Disease requiring surgical procedures

Author

Philippe Beurrier, Nicolas Drillaud, Marc Trossaert, Olivier Feugeas, Emmanuelle de Raucourt, Anamaria Callegarin, Claire Flaujac, Yoann Pailler, Fabienne Volot, Dominique Desprez, Vincent Cussac, and Brigitte Pan-Petesch

Subjects
medicine.medical_specialty, 030204 cardiovascular system & hematology, Gastroenterology, Loading dose, Hemostatics, law.invention, 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, law, hemic and lymphatic diseases, Internal medicine, von Willebrand Factor, Von Willebrand disease, Humans, Medicine, In patient, Adverse effect, Desmopressin, Genetics (clinical), Retrospective Studies, Hemostasis, Factor VIII, biology, business.industry, Hematology, General Medicine, Surgical procedures, medicine.disease, von Willebrand Diseases, Recombinant DNA, biology.protein, business, 030215 immunology, medicine.drug
Abstract

Introduction Von Willebrand Disease is a common inherited haemorrhagic disorder due to a deficiency of Von Willebrand Factor (VWF). In case of surgical procedures in patients who are not responsive or have contraindications to desmopressin, replacement therapy with VWF concentrates is indicated. Until recently, only plasma-derived VWF concentrates were available. A new recombinant VWF (rVWF) concentrate that contains no Factor VIII (FVIII) but a high amount of high molecular weight VWF multimers has been available in France since 2018. Aim Describe real-world experience of using rVWF in surgical procedures. Methods Sixty-three surgeries for 55 patients were retrospectively analysed in 7 French haemostasis centres. Results During minor surgeries, the median (range) number of infusions was 1 (1-8) with a preoperative loading dose of 35 (19-56) rVWF IU/kg and a total median dose of 37.5 IU (12-288). During major surgeries, the median (range) number of infusions was only 3 (1-14) with a median preoperative loading dose of 36 IU (12-51) rVWF IU/kg, and a total median dose of 108 IU (22-340) rVWF IU/kg. The overall clinical efficacy was qualified as excellent/good in 61 of the procedures (97%), moderate in 1 (1.5%) and poor in 1 (1.5%). There was no accumulation of VWF or FVIII during postoperative monitoring. No thromboembolic events, anti-VWF antibodies or adverse events were reported. Conclusion This French 'real-world' experience shows that a few infusions and low doses of rVWF provided effective prevention of bleeding in major and minor surgeries in inherited VWD, with no clinically significant safety concerns.

Published
2021

4. Genomic analysis of primary and secondary myelofibrosis redefines the prognostic impact of ASXL1 mutations: a FIM study

Author

Jean-Claude Chomel, Jean-Christophe Ianotto, Laurane Cottin, Pierre Sujobert, Véronique Mansat-De Mas, Barbara Burroni, Vincent Cussac, Nathalie Jézéquel, Brigitte Dupriez, Bruno Cassinat, Emmanuelle Verger, Raouf Ben Abdelali, Dana Ranta, Damien Luque Paz, Olivier Kosmider, Olivier Mansier, Gabriel Etienne, Jerome Rey, Maxime Renard, Jean-Jacques Kiladjian, Fabienne Vacheret, Guillaume Denis, Anne Murati, Jérémie Riou, Pascal Mossuz, Françoise Boyer, Eric Lippert, Yannick Le Bris, Pascale Cony-Makhoul, Ivan Sloma, Anouk Walter-Petrich, Suzanne Tavitian, Stéphane Giraudier, Stéphane Girault, Aurélie Chauveau, Gérard Socié, François Girodon, Lydia Roy, Olivier Nibourel, Borhane Slama, Valérie Ugo, Margot Robles, Mathieu Wemeau, Bernardo, Elizabeth, Innate Immunity and Immunotherapy (CRCINA-ÉQUIPE 7), Centre de Recherche en Cancérologie et Immunologie Nantes-Angers (CRCINA), Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Université d'Angers (UA)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'hématologie [Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), UFR Santé [UNIV Angers], Université d'Angers (UA), Micro et Nanomédecines Translationnelles (MINT), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Hématopoïèse normale et pathologique : émergence, environnement et recherche translationnelle [Paris] ((UMR_S1131 / U1131)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Laboratoire de Biologie Cellulaire [AP-HP Hôpital Saint-Louis], Hopital Saint-Louis [AP-HP] (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHRU Brest - Service d'Hématologie (CHU-Brest-Hemato), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service d'hématologie clinique [CHRU Brest], Service d'hématologie clinique [CH Lens], Centre Hospitalier de Lens, Service des maladies du sang [Angers], Service d'Hématologie [Bordeaux], CHU Bordeaux [Bordeaux], Biologie des maladies cardiovasculaires = Biology of Cardiovascular Diseases, Université de Bordeaux (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Immuno-hématologie clinique [Hôpital Sainte Marguerite - APHM], Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital Sainte-Marguerite [CHU - APHM] (Hôpitaux Sud ), Centre de Recherche en Cancérologie de Marseille (CRCM), Aix Marseille Université (AMU)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Bergonié [Bordeaux], UNICANCER, Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Hématologie Cellulaire [Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 (CANTHER), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Service d'Hématologie biologique [CHU Limoges], CHU Limoges, Regulation of Bcl2 and p53 Networks in Multiple Myeloma and Mantle Cell Lymphoma (CRCINA-ÉQUIPE 10), Service d'Hématologie [Nantes], Centre hospitalier universitaire de Nantes (CHU Nantes), Service d'hématologie biologique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service d'Hématologie Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Cancérologie Biologique [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Service d'Hématologie [CH Annecy], CH Annecy, Service d'hématologie biologique [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Perigueux, Laboratoire CERBA [Saint Ouen l'Aumône], Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Laboratoire d’Hématologie [CHU Henri-Mondor - APHP], CHU Henri Mondor, Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Laboratoire d'Hématologie et d'Immunologie [CHU Henri Mondor], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Service d'Hématologie [CH Perpignan], CH Perpignan, Centre Hospitalier de Roubaix, Service d'hématologie et d'Oncologie [CHU Grenoble], Centre Hospitalier Universitaire [Grenoble] (CHU), Avignon Université (AU), Service d’Onco-Hématologie et Médecine interne [Le Mans], Centre Hospitalier Le Mans (CH Le Mans), Centre Hospitalier de Rochefort, Equipe 2 : ECSTRA - Epidémiologie Clinique, STatistique, pour la Recherche en Santé (CRESS - U1153), Centre de Recherche Épidémiologie et Statistique Sorbonne Paris Cité (CRESS (U1153 / UMR_A_1125 / UMR_S_1153)), Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM), HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-HESAM Université - Communauté d'universités et d'établissements Hautes écoles Sorbonne Arts et métiers université (HESAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département d'anatomopathologie [CHU Cochin], Unité d'hématologie et de transplantation, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], CIC Saint Louis (CIC-1427), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes)-Centre National de la Recherche Scientifique (CNRS)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Aix Marseille Université (AMU), Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Conservatoire National des Arts et Métiers [CNAM] (CNAM)-Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'hématologie biologique [CHU de Dijon], CHU Henri Mondor [Créteil], and Centre Hospitalier de Rochefort (CH Rochefort)

Subjects
Neuroblastoma RAS viral oncogene homolog, Oncology, medicine.medical_specialty, IDH1, [SDV.CAN]Life Sciences [q-bio]/Cancer, medicine.disease_cause, IDH2, 03 medical and health sciences, 0302 clinical medicine, [SDV.CAN] Life Sciences [q-bio]/Cancer, Internal medicine, medicine, Humans, Myelofibrosis, 030304 developmental biology, 0303 health sciences, Mutation, Acute leukemia, Myeloid Neoplasia, business.industry, Hazard ratio, Bayes Theorem, Hematology, Genomics, medicine.disease, Prognosis, 3. Good health, Repressor Proteins, Primary Myelofibrosis, 030220 oncology & carcinogenesis, KRAS, business
Abstract

We aimed to study the prognostic impact of the mutational landscape in primary and secondary myelofibrosis. The study included 479 patients with myelofibrosis recruited from 24 French Intergroup of Myeloproliferative Neoplasms (FIM) centers. The molecular landscape was studied by high-throughput sequencing of 77 genes. A Bayesian network allowed the identification of genomic groups whose prognostic impact was studied in a multistate model considering transitions from the 3 conditions: myelofibrosis, acute leukemia, and death. Results were validated using an independent, previously published cohort (n = 276). Four genomic groups were identified: patients with TP53 mutation; patients with ≥1 mutation in EZH2, CBL, U2AF1, SRSF2, IDH1, IDH2, NRAS, or KRAS (high-risk group); patients with ASXL1-only mutation (ie, no associated mutation in TP53 or high-risk genes); and other patients. A multistate model found that both TP53 and high-risk groups were associated with leukemic transformation (hazard ratios [HRs] [95% confidence interval], 8.68 [3.32-22.73] and 3.24 [1.58-6.64], respectively) and death from myelofibrosis (HRs, 3.03 [1.66-5.56] and 1.77 [1.18-2.67], respectively). ASXL1-only mutations had no prognostic value that was confirmed in the validation cohort. However, ASXL1 mutations conferred a worse prognosis when associated with a mutation in TP53 or high-risk genes. This study provides a new definition of adverse mutations in myelofibrosis with the addition of TP53, CBL, NRAS, KRAS, and U2AF1 to previously described genes. Furthermore, our results argue that ASXL1 mutations alone cannot be considered detrimental.

Published
2021

5. Bleeding complications during pregnancy and delivery in haemophilia carriers and their neonates in Western France: An observational study

Author

Philippe Beurrier, Leela Raj, Karine Lacut, Vincent Cussac, Jérôme Potin, Benoît Guillet, Laurent Ardillon, Sophie Bayart, Valerie Horvais, Benjamin Gillet, Francis Couturaud, Alice Nau, Brigitte Pan-Petesch, Johann Rose, Marc Trossaert, Sophie Guillou, Laurent Macchi, Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-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 ), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Le Mans (CH Le Mans), Centre hospitalier universitaire de Poitiers (CHU Poitiers), Ischémie Reperfusion en Transplantation d’Organes Mécanismes et Innovations Thérapeutiques ( IRTOMIT), Université de Poitiers-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Brest (UBO), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Institut National de la Santé et de la Recherche Médicale (INSERM)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université d'Angers (UA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Poitiers, Université d'Angers (UA)-Université de Rennes 1 (UR1), and Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-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 )

Subjects
Adult, medicine.medical_specialty, newborns, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Haemophilia A, Hemorrhage, haemophilia A, haemophilia B, 030204 cardiovascular system & hematology, Hemophilia A, Haemophilia, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Caesarean section, Haemophilia B, postpartum, Haemophilia carriers, Genetics (clinical), Pregnancy, business.industry, Obstetrics, Infant, Newborn, Hematology, General Medicine, medicine.disease, 3. Good health, Cohort, Female, France, pregnancy, business, Postpartum period, 030215 immunology, Cohort study
Abstract

International audience; Background: Pregnancy, delivery and the postpartum period expose haemophilia carriers, as well as their potentially affected neonates to a high risk of haemorrhagic complications.Objectives: To describe bleeding complications in haemophilia carriers and their newborns throughout pregnancy and postpartum and to identify potential factors increasing the risk of bleeding in this population.Patients/methods: The ECHANGE multicentre observational cohort study was conducted between January 2014 and February 2019 using the BERHLINGO database comprised of patients from seven French haemophilia centres.Results: During the 5 years study period, a total of 104 haemophilia carriers and 119 neonates were included, representing 124 pregnancies and 117 deliveries. Thirty-five (30%) bleeding events were observed, most of them (83%) occurred during the postpartum period, and 37% were reported during the secondary postpartum. Neuraxial anaesthesia was not complicated by spinal haematoma. Three (2.5%) neonates experienced cerebral bleeding. Caesarean section was associated with an increased risk of maternal bleeding in primary and secondary postpartum periods. Basal factor level

Published
2020

6. Lymphoplasmacytic lymphoma or multiple myeloma: immunoglobulins may lead to misdiagnosis

Author

Johann Rose, Sabine Defasque, Jonathan Farhi, Anne Besançon-Bergelin, Vincent Cussac, Jérôme Debus, Fabienne Pineau-Vincent, Pierre Lemaire, Habib Ghnaya, Nathalie Denizon, Kamel Laribi, and Mustafa Alani

Subjects
Paraproteinemia, Pathology, medicine.medical_specialty, Paraproteinemias, Immunoglobulins, Plasma cell, Malignancy, Immunophenotyping, Lymphoplasmacytic Lymphoma, Diagnosis, Differential, medicine, Humans, Diagnostic Errors, Multiple myeloma, business.industry, Waldenstrom macroglobulinemia, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Female, Waldenstrom Macroglobulinemia, Differential diagnosis, Multiple Myeloma, business
Abstract

We report here a case of lymphoplasmacytic lymphoma with IgA paraproteinemia and a case of concomitant Waldenström macroglobulinemia and monoclonal gammapathy of unknown significance. These rare cases show that the isotype of a monoclonal immunoglobulin does not allow to foresee every time the underlying pathology. Clinical data and medical imaging are essential. From a biological point of view, additional analysis such as immunophenotyping, cytogenetics and molecular biology are required in addition to the cytological features in order to make an accurate differential diagnosis between lymphoid and plasma cell malignancy.

Published
2018

7. A case of EDTA-related in vitro platelet degranulation

Author

Marinela Sisiroi, Jérôme Debus, Fabienne Pineau-Vincent, Vincent Cussac, and Pierre Lemaire

Subjects
Blood Platelets, medicine.medical_specialty, Cell Degranulation, Gray Platelet Syndrome, Gastroenterology, Gray platelet syndrome, Diagnosis, Differential, Platelet degranulation, Internal medicine, medicine, Humans, Platelet, Diagnostic Errors, Edetic Acid, Aged, business.industry, Anticoagulants, General Medicine, medicine.disease, In vitro, Blood film, Grey platelets, Female, Differential diagnosis, Artifacts, business
Abstract

A 71 year-old woman is admitted to Le Mans hospital center for management of a chronic skin lesion. She has no personal nor familial bleeding history and does not take any medication. In peripheral blood collected with EDTA (ethylene diamine tetra-acetate), the platelet count is elevated and the blood film shows uniformly grey platelets. In sodium citrate-collected blood, platelets show no abnormality. We describe an EDTA-related artifact that is not to be mistaken for grey platelet syndrome.

Published
2017

8. [Shwachman-Diamond syndrome: a case report]

Author

Odile Fenneteau, Pierre Lemaire, Anne Besançon, Vincent Cussac, Kamel Laribi, Dominique Martin-Coignard, Fabienne Pineau-Vincent, and Mohamed Kaabar

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Shwachman–Diamond syndrome, medicine.medical_specialty, business.industry, Clinical Laboratory Techniques, General Medicine, Neutropenia, medicine.disease, Dermatology, Shwachman-Diamond Syndrome, Diagnosis, Differential, Young Adult, Feature (computer vision), Medicine, Humans, Lipomatosis, Exocrine Pancreatic Insufficiency, Female, business, Bone Marrow Diseases, Rare disease
Abstract

Shwachman-Diamond syndrome is a constitutional disorder characterized by exocrine pancreatic failure and neutropenia with dysgranulopoiesis. It is a rare disease, with less than 100 cases reported in France. Here we report the case of a 23-year-old woman with this syndrome. The clinical feature and the diagnostic steps are described, as well as the evolution and management in medical and laboratory medicine practice.

Published
2018

9. E hepatitis seroprevalence in a population of patients with transaminases increased at Le Mans' hospital (France)

Author

Anna Mingam, Fabienne Pineau-Vincent, Vincent Cussac, and Mohamed Kaabar

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Context (language use), medicine.disease_cause, Serology, Immunocompromised Host, Young Adult, Hepatitis E virus, Seroepidemiologic Studies, Medicine, Seroprevalence, Humans, education, Child, Transaminases, Aged, Aged, 80 and over, education.field_of_study, business.industry, Transmission (medicine), Hepatitis A, General Medicine, Middle Aged, medicine.disease, Hepatitis E, Hospitals, Child, Preschool, Female, France, business
Abstract

In Europe, infection through the hepatitis E virus presents itself under the form of autochthone, sporadic cases with zoonotic transmission. The diagnosis is more frequent in the case of male subjects above 50, with a generally severe clinical presentation. Moreover, a transition to chronicity is described in the case of immunocompromised patients. In France and in the world, seroprevalence has not clearly been established yet. In the hospital of Le Mans, Sarthe, France, the serologic status regarding the hepatitis E virus was established between October 1(st) 2012 and April 3(rd) 2015 on a population of 299 patients who presented hypertransaminasaemia and negative serology regarding hepatitis A, B and C viruses. According to the Wantai(®) Assays technique, seroprevalence for IgG among this cohort was 26.1%, while 3.7% of patients presented acute hepatitis E and a positive IgM serology. Hepatitis E screening tests are indispensable in the context of acute hepatitis no A, no B, no C.

Published
2016

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