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Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes.

Elsa Bernard, Yasuhito Nannya, Robert P Hasserjian, Sean M Devlin, Heinz Tuechler, Juan S Medina-Martinez, Tetsuichi Yoshizato, Yusuke Shiozawa, Ryunosuke Saiki, Luca Malcovati, Max F Levine, Juan E Arango, Yangyu Zhou, Francesc Solé, Catherine A Cargo, Detlef Haase, Maria Creignou, Ulrich Germing, Yanming Zhang, Gunes Gundem, Araxe Sarian, Arjan A van de Loosdrecht, Martin Jädersten, Magnus Tobiasson, Olivier Kosmider, Matilde Y Follo, Felicitas Thol, Ronald F Pinheiro, Valeria Santini, Ioannis Kotsianidis, Jacqueline Boultwood, Fabio P S Santos, Julie Schanz, Senji Kasahara, Takayuki Ishikawa, Hisashi Tsurumi, Akifumi Takaori-Kondo, Toru Kiguchi, Chantana Polprasert, John M Bennett, Virginia M Klimek, Michael R Savona, Monika Belickova, Christina Ganster, Laura Palomo, Guillermo Sanz, Lionel Ades, Matteo Giovanni Della Porta, Alexandra G Smith, Yesenia Werner, Minal Patel, Agnès Viale, Katelynd Vanness, Donna S Neuberg, Kristen E Stevenson, Kamal Menghrajani, Kelly L Bolton, Pierre Fenaux, Andrea Pellagatti, Uwe Platzbecker, Michael Heuser, Peter Valent, Shigeru Chiba, Yasushi Miyazaki, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop H Jansen, José Cervera, Yoshiko Atsuta, Norbert Gattermann, Benjamin L Ebert, Rafael Bejar, Peter L Greenberg, Mario Cazzola, Eva Hellström-Lindberg, Seishi Ogawa, Elli Papaemmanuil,

Tumor protein p53 (TP53) is the most frequently mutated gene in cancer1,2. In patients with myelodysplastic syndromes (MDS), TP53 mutations are associated with high-risk disease3,4, rapid transformation to acute myeloid leukemia (AML)5, resistance to conventional therapies6-8 and dismal outcomes9. Consistent with the tumor-suppressive role of TP53, patients harbor both mono- ... Read more >>

Nat. Med. (Nature medicine)
[2020, :]

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Which lower risk myelodysplastic syndromes should be treated with allogeneic hematopoietic stem cell transplantation?

Marie Robin, Pierre Fenaux,

Indications of allogeneic hematopoietic stem cell transplantation (HSCT) remain controversial in patients with lower risk myelodysplastic syndrome. We review prognostic factors in lower risk MDS, delineating patients with relatively poor risk who may potentially benefit from HSCT during the disease course. Results of HSCT in those patients, and main efforts ... Read more >>

Leukemia (Leukemia)
[2020, :]

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Prognostic value of monocyte subset distribution in chronic myelomonocytic leukemia: results of a multicenter study.

Matthieu Jestin, Sihem Tarfi, Matthieu Duchmann, Bouchra Badaoui, Nicolas Freynet, Violaine Tran Quang, Ivan Sloma, Nathalie Droin, Margot Morabito, Mathieu Leclerc, Sébastien Maury, Pierre Fenaux, Eric Solary, Dorothée Selimoglu-Buet, Orianne Wagner-Ballon, ,

Leukemia (Leukemia)
[2020, :]

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Impact of somatic mutations on response to lenalidomide in lower-risk non-del(5q) myelodysplastic syndromes patients.

Valeria Santini, Pierre Fenaux, Aristoteles Giagounidis, Uwe Platzbecker, Alan F List, Torsten Haferlach, Jim Zhong, Chengqing Wu, Konstantinos Mavrommatis, C L Beach, Kyle J MacBeth, Antonio Almeida,

Leukemia (Leukemia)
[2020, :]

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SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.

Luca Malcovati, Kristen Stevenson, Elli Papaemmanuil, Donna Neuberg, Rafael Bejar, Jacqueline Boultwood, David T Bowen, Peter J Campbell, Benjamin L Ebert, Pierre Fenaux, Torsten Haferlach, Michael Heuser, Joop H Jansen, Rami S Komrokji, Jaroslaw P Maciejewski, Matthew J Walter, Michaela Fontenay, Guillermo Garcia-Manero, Timothy A Graubert, Aly Karsan, Manja Meggendorfer, Andrea Pellagatti, David A Sallman, Michael R Savona, Mikkael A Sekeres, David P Steensma, Sudhir Tauro, Felicitas Thol, Paresh Vyas, Arjan A Van de Loosdrecht, Detlef Haase, Heinz Tüchler, Peter L Greenberg, Seishi Ogawa, Eva Hellstrom-Lindberg, Mario Cazzola,

The 2016 revision of the World Health Organization classification of tumors of hematopoietic and lymphoid tissues is characterized by a closer integration of morphology and molecular genetics. Notwithstanding, the myelodysplastic syndrome (MDS) with isolated del(5q) remains so far the only MDS subtype defined by a genetic abnormality. Approximately half of ... Read more >>

Blood (Blood)
[2020, 136(2):157-170]

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Special considerations in the management of adult patients with acute leukaemias and myeloid neoplasms in the COVID-19 era: recommendations from a panel of international experts.

Amer M Zeidan, Prajwal C Boddu, Mrinal M Patnaik, Jan Philipp Bewersdorf, Maximilian Stahl, Raajit K Rampal, Rory Shallis, David P Steensma, Michael R Savona, Mikkael A Sekeres, Gail J Roboz, Daniel J DeAngelo, Andre C Schuh, Eric Padron, Joshua F Zeidner, Roland B Walter, Francesco Onida, Amir Fathi, Amy DeZern, Gabriela Hobbs, Eytan M Stein, Paresh Vyas, Andrew H Wei, David T Bowen, Pau Montesinos, Elizabeth A Griffiths, Amit K Verma, Alla Keyzner, Michal Bar-Natan, Shyamala C Navada, Marina Kremyanskaya, Aaron D Goldberg, Aref Al-Kali, Mark L Heaney, Aziz Nazha, Huda Salman, Selina Luger, Keith W Pratz, Heiko Konig, Rami Komrokji, Michael Deininger, Blanca Xicoy Cirici, Vijaya Raj Bhatt, Lewis R Silverman, Harry P Erba, Pierre Fenaux, Uwe Platzbecker, Valeria Santini, Eunice S Wang, Martin S Tallman, Richard M Stone, John Mascarenhas,

The ongoing COVID-19 pandemic caused by severe acute respiratory syndrome coronavirus 2 is a global public health crisis. Multiple observations indicate poorer post-infection outcomes for patients with cancer than for the general population. Herein, we highlight the challenges in caring for patients with acute leukaemias and myeloid neoplasms amid the ... Read more >>

Lancet Haematol (The Lancet. Haematology)
[2020, 7(8):e601-e612]

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Clonal dominance is an adverse prognostic factor in acute myeloid leukemia treated with intensive chemotherapy.

Marco Cerrano, Matthieu Duchmann, Rathana Kim, Loic Vasseur, Pierre Hirsch, Xavier Thomas, Samuel Quentin, Justine Pasanisi, Marie Passet, Florence Rabian, Ramy Rahmé, Etienne Lengliné, Emmanuel Raffoux, Nathalie Dhédin, Marie Sébert, Odile Maarek, Anna Raimbault, Karine Celli-Lebras, Lionel Adès, Pierre Fenaux, Nicolas Boissel, François Delhommeau, Jean Soulier, Hervé Dombret, Emmanuelle Clappier, Pierre Sujobert, Raphael Itzykson,

Intra-tumor heterogeneity portends poor outcome in many cancers. In AML, a higher number of drivers worsens prognosis. The Shannon Index is a robust metric of clonal heterogeneity that accounts for the number of clones, but also their relative abundance. We show that a Shannon Index can be estimated from bulk ... Read more >>

Leukemia (Leukemia)
[2020, :]

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Development of a core outcome set for myelodysplastic syndromes - a Delphi study from the EUMDS Registry Group.

Ursula Rochau, Igor Stojkov, Annette Conrads-Frank, Helena H Borba, Karin A Koinig, Marjan Arvandi, Corine van Marrewijk, Hege Garelius, Ulrich Germing, Argiris Symeonidis, Guillermo F Sanz, Pierre Fenaux, Theo de Witte, Fabio Efficace, Uwe Siebert, Reinhard Stauder,

Treatment options for myelodysplastic syndromes (MDS) vary widely, depending on the natural disease course and patient-related factors. Comparison of treatment effectiveness is challenging as different endpoints have been included in clinical trials and outcome reporting. Our goal was to develop the first MDS core outcome set (MDS-COS) defining a minimum ... Read more >>

Br. J. Haematol. (British journal of haematology)
[2020, :]

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Azacitidine in patients older than 80 years with acute myeloid leukaemia or myelodysplastic syndromes: a report on 115 patients.

Pierre Peterlin, Thomas Cluzeau, Maxime Jullien, Anne-Marie Ngo Nloga, Anne Calleja, Eurydice Angeli, Patrice Chevallier, Thierry Guillaume, Alice Garnier, Amandine Le Bourgeois, Steven Le Gouill, Pierre Fenaux, Lionel Adès, Cécile Bally,

Br. J. Haematol. (British journal of haematology)
[2020, 190(3):461-464]

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MIRROS: a randomized, placebo-controlled, Phase III trial of cytarabine ± idasanutlin in relapsed or refractory acute myeloid leukemia.

Pau Montesinos, Benjamin M Beckermann, Olivier Catalani, Jordi Esteve, Katia Gamel, Marina Y Konopleva, Giovanni Martinelli, Annabelle Monnet, Cristina Papayannidis, Aaron Park, Christian Récher, Rebeca Rodríguez-Veiga, Christoph Röllig, Norbert Vey, Andrew H Wei, Sung-Soo Yoon, Pierre Fenaux,

Patients with refractory or relapsed acute myeloid leukemia (R/R AML) have a poor prognosis, with a high unmet medical need. Idasanutlin is a small-molecule inhibitor of MDM2, a negative regulator of tumor suppressor p53. By preventing the p53-MDM2 interaction, idasanutlin allows for p53 activation, particularly in patients with TP53 wild-type ... Read more >>

Future Oncol (Future oncology (London, England))
[2020, 16(13):807-815]

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Distinct mutational pattern of myelodysplastic syndromes with and without 5q- treated with lenalidomide.

Vera Adema, Laura Palomo, Andrea Toma, Olivier Kosmider, Francisco Fuster-Tormo, Rocío Benito, Rocío Salgado, Esperanza Such, María José Larrayoz, Blanca Xicoy, Jesus Maria Hernandez-Sanchez, Paolo Maietta, Alexander Neef, Michaela Fontenay, Mariam Ibañez, Maria Diez-Campelo, Sara Alvarez, Jaroslaw P Maciejewski, Pierre Fenaux, Francesc Sole,

Br. J. Haematol. (British journal of haematology)
[2020, 189(4):e133-e137]

Cited: 1 time

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Arsenic Trioxide Treatment during Pregnancy for Acute Promyelocytic Leukemia in a 22-Year-Old Woman.

Claire Cochet, Marion Simonet, Julie Cattin, Jean-Patrick Metz, Ana Berceanu, Eric Deconinck, Etienne Daguindau, Françoise Schillinger, Pierre Fenaux, Nicolas Mottet, Yohan Desbrosses,

Acute leukemia during pregnancy is rare (1 for 100000 pregnancies). The association of arsenic trioxide (ATO) and all-trans retinoic acid (ATRA) is known as the best therapy in standard-risk acute promyelocytic leukemia (APL). We describe the first case of a pregnancy with ATRA and ATO reported in the literature. In ... Read more >>

Case Rep Hematol (Case reports in hematology)
[2020, 2020:3686584]

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Achievement of red blood cell transfusion independence in red blood cell transfusion-dependent patients with lower-risk non-del(5q) myelodysplastic syndromes correlates with serum erythropoietin levels.

Valeria Santini, Antonio Almeida, Aristoteles Giagounidis, Barry Skikne, C L Beach, Jerry Weaver, Nora Tu, Pierre Fenaux,

In the randomized, phase 3, MDS-005 study (NCT01029262), lenalidomide-induced red blood cell transfusion independence (RBC-TI) in 27% of transfusion-dependent patients with lower-risk non-del(5q) myelodysplastic syndromes (MDS) ineligible for or refractory to erythropoiesis-stimulating agents. To determine the influence of erythropoietin (EPO) level on response, 155 patients treated with lenalidomide in MDS-005 ... Read more >>

Leuk. Lymphoma (Leukemia & lymphoma)
[2020, 61(6):1475-1483]

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Outcome of older (≥70 years) APL patients frontline treated with or without arsenic trioxide-an International Collaborative Study.

Sabine Kayser, Ramy Rahmé, David Martínez-Cuadrón, Gabriel Ghiaur, Xavier Thomas, Marta Sobas, Agnes Guerci-Bresler, Ana Garrido, Arnaud Pigneux, Cristina Gil, Emmanuel Raffoux, Mar Tormo, Norbert Vey, Javier de la Serna, Olga Salamero, Eva Lengfelder, Mark J Levis, Pierre Fenaux, Miguel A Sanz, Uwe Platzbecker, Richard F Schlenk, Lionel Adès, Pau Montesinos,

Data on outcome in older (≥70 years) patients with acute promyelocytic leukemia after treatment with arsenic trioxide (ATO) compared with standard chemotherapy (CTX) is scarce. We evaluated 433 patients (median age, 73.4 years) treated either with ATO+ all-trans retinoic acid (ATO/ATRA; n = 26), CTX/ATRA + ATO during consolidation (CTX/ATRA/ATO; n = 148), or with CTX/ATRA ... Read more >>

Leukemia (Leukemia)
[2020, :]

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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M Payne, Rachel E Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D Cavenagh, Vincent Plagnol, Javier F Caceres, Jude Fitzgibbon, Inderjeet Dokal,

The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):1044]

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Implications of TP53 Allelic State for Genome Stability, Clinical Presentation and Outcomes in Myelodysplastic Syndromes

Elsa Bernard, Yasuhito Nannya, Robert Hasserjian, Sean Devlin, Heinz Tuechler, Juan Medina-Martinez, Tetsuichi Yoshizato, Yusuke Shiozawa, Ryunosuke Saiki, Luca Malcovati, Max Levine, Juan Arango, Yangyu Zhou, Francesc Sole, Catherine Cargo, Detlef Haase, Maria Creignou, Ulrich Germing, Yanming Zhang, Gunes Gundem, Araxe Sarian, Arjan van de Loosdrecht, Martin Jädersten, Magnus Tobiasson, Olivier Kosmider, Matilde Follo, Felicitas Thol, Ronald Pinheiro, Valeria Santini, Ioannis Kotsianidis, Jacqueline Boultwood, Fabio P.S. Santos, Julie Schanz, Senji Kasahara, Takayuki Ishikawa, Hisashi Tsurumi, Akifumi Takaori-Kondo, Toru Kiguchi, Chantana Polprasert, John Bennett, Virginia Klimek, Michael Savona, Monika Belickova, Christina Ganster, Laura Palomo, Guillermo Sanz, Lionel Ades, Matteo Giovanni Della Porta, Alexandra Smith, Yesenia Werner, Minal Patel, Agnès Viale, Katelynd Vanness, Donna Neuberg, Kristen Stevenson, Kamal Menghrajani, Kelly Bolton, Pierre Fenaux, Andrea Pellagatti, Uwe Platzbecker, Michael Heuser, Peter Valent, Shigeru Chiba, Yasushi Miyazaki, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Michaela Fontenay, Joop Jansen, José Cervera, Yoshiko Atsuta, Norbert Gattermann, Benjamin Ebert, Rafael Bejar, Peter Greenberg, Mario Cazzola, Eva Hellström-Lindberg, Seishi Ogawa, Elli Papaemmanuil,

ABSTRACT TP53 mutations are associated with poor clinical outcomes and treatment resistance in myelodysplastic syndromes. However, the biological and clinical relevance of the underlying mono- or bi-allelic state of the mutations is unclear. We analyzed 3,324 MDS patients for TP53 mutations and allelic imbalances of the TP53 locus and found ... Read more >>

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Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.

Pierre Fenaux, Uwe Platzbecker, Ghulam J Mufti, Guillermo Garcia-Manero, Rena Buckstein, Valeria Santini, María Díez-Campelo, Carlo Finelli, Mario Cazzola, Osman Ilhan, Mikkael A Sekeres, José F Falantes, Beatriz Arrizabalaga, Flavia Salvi, Valentina Giai, Paresh Vyas, David Bowen, Dominik Selleslag, Amy E DeZern, Joseph G Jurcic, Ulrich Germing, Katharina S Götze, Bruno Quesnel, Odile Beyne-Rauzy, Thomas Cluzeau, Maria-Teresa Voso, Dominiek Mazure, Edo Vellenga, Peter L Greenberg, Eva Hellström-Lindberg, Amer M Zeidan, Lionel Adès, Amit Verma, Michael R Savona, Abderrahmane Laadem, Aziz Benzohra, Jennie Zhang, Anita Rampersad, Diana R Dunshee, Peter G Linde, Matthew L Sherman, Rami S Komrokji, Alan F List,

BACKGROUND:Patients with anemia and lower-risk myelodysplastic syndromes in whom erythropoiesis-stimulating agent therapy is not effective generally become dependent on red-cell transfusions. Luspatercept, a recombinant fusion protein that binds transforming growth factor β superfamily ligands to reduce SMAD2 and SMAD3 signaling, showed promising results in a phase 2 study. METHODS:In a ... Read more >>

N. Engl. J. Med. (The New England journal of medicine)
[2020, 382(2):140-151]

Cited: 2 times

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Cardiac failure in patients treated with azacitidine, a pyrimidine analogue: Case reports and disproportionality analyses in Vigibase.

Justine Perino, Nathan Mottal, Yohann Bohbot, Vincent Servant, Aude Berroneau, Pierre Poustis, Pierre Fenaux, Kamel Laribi, Aude Charbonnier, Emilien Bilion, Claire Calmettes, Bernard Bégaud, Arnaud Pigneux, Noël Milpied, Ghada Miremont-Salamé, Hélène Théophile, Sophie Dimicoli-Salazar,

AIMS:Azacitidine (AZA), a pyrimidine analogue, is validated for high-risk myelodysplastic syndrome or low-blast acute myeloid leukaemia in unfit patients for more intensive treatment. This study assessed the putative link between cardiac failure (CF) and AZA exposure. METHODS:Cases of CF in patients treated with AZA were retrospectively collected and described from ... Read more >>

Br J Clin Pharmacol (British journal of clinical pharmacology)
[2020, 86(5):991-998]

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Acadesine Circumvents Azacitidine Resistance in Myelodysplastic Syndrome and Acute Myeloid Leukemia.

Thomas Cluzeau, Nathan Furstoss, Coline Savy, Wejdane El Manaa, Marwa Zerhouni, Lauriane Blot, Anne Calleja, Maeva Dufies, Alix Dubois, Clemence Ginet, Nicolas Mounier, Georges Garnier, Sophie Raynaud, Pierre Simon Rohrlich, Pierre Peterlin, Aspasia Stamatoullas, Fatiha Chermat, Pierre Fenaux, Arnaud Jacquel, Guillaume Robert, Patrick Auberger,

Myelodysplastic syndrome (MDS) defines a group of heterogeneous hematologic malignancies that often progresses to acute myeloid leukemia (AML). The leading treatment for high-risk MDS patients is azacitidine (Aza, Vidaza®), but a significant proportion of patients are refractory and all patients eventually relapse after an undefined time period. Therefore, new therapies ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2019, 21(1):]

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Single agent talacotuzumab demonstrates limited efficacy but considerable toxicity in elderly high-risk MDS or AML patients failing hypomethylating agents.

Anne Sophie Kubasch, Freya Schulze, Aristoteles Giagounidis, Katharina S Götze, Jan Krönke, Katja Sockel, Jan Moritz Middeke, Fatiha Chermat, Silke Gloaguen, Martin Puttrich, Carmen Weigt, Doreen William, Pierre Fenaux, Richard F Schlenk, Christian Thiede, Sebastian Stasik, Anna Mies, Lionel Adès, Uta Oelschlägel, Uwe Platzbecker,

Leukemia (Leukemia)
[2020, 34(4):1182-1186]

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Giant-cell arteritis associated with myelodysplastic syndrome: French multicenter case control study and literature review.

Anne Laure Roupie, Hubert de Boysson, Sara Thietart, Fabrice Carrat, Julie Seguier, Louis Terriou, Mathilde Versini, Viviane Queyrel, Matthieu Groh, Ygal Benhamou, Francois Maurier, Olivier Decaux, Maud d'Aveni, Julien Rossignol, Joris Galland, Eric Solary, Lise Willems, Nicolas Schleinitz, Lionel Ades, Azeddine Dellal, Maxime Samson, Achille Aouba, Pierre Fenaux, Olivier Fain, Arsène Mekinian, ,

INTRODUCTION:Myelodysplastic syndromes (MDS) and MDS/myeloproliferative neoplasms (MDS/MPN) can be associated with giant cell arteritis (GCA). In this nationwide study by the "French Network of dysimmune disorders associated with hemopathies" (MINHEMON) the objective was to evaluate characteristics, treatment and outcome of GCA MDS-MDS/MPN. PATIENTS AND METHODS:Retrospective analysis of patients that presented ... Read more >>

Autoimmun Rev (Autoimmunity reviews)
[2020, 19(2):102446]

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Non-del(5q) myelodysplastic syndromes-associated loci detected by SNP-array genome-wide association meta-analysis.

Kathy L McGraw, Chia-Ho Cheng, Y Ann Chen, Hsin-An Hou, Björn Nilsson, Giulio Genovese, Thomas Cluzeau, Andrea Pellagatti, Bartlomiej P Przychodzen, Mar Mallo, Leonor Arenillas, Azim Mohamedali, Lionel Adès, David A Sallman, Eric Padron, Lubomir Sokol, Chimene Moreilhon, Sophie Raynaud, Hwei-Fang Tien, Jacqueline Boultwood, Benjamin L Ebert, Francesc Sole, Pierre Fenaux, Ghulam J Mufti, Jaroslaw P Maciejewski, Peter A Kanetsky, Alan F List,

Myelodysplastic syndromes (MDS) are hematopoietic stem cell malignancies. Known predisposing factors to adult MDS include rare germline mutations, cytotoxic therapy, age-related clonal hematopoiesis, and autoimmune or chronic inflammatory disorders. To date, no published studies characterizing MDS-associated germline susceptibility polymorphisms exist. We performed a genome-wide association study of 2 sample sets ... Read more >>

Blood Adv (Blood advances)
[2019, 3(22):3579-3589]

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Synergistic effects of PRIMA-1Met (APR-246) and 5-azacitidine in TP53-mutated myelodysplastic syndromes and acute myeloid leukemia.

Nabih Maslah, Norman Salomao, Louis Drevon, Emmanuelle Verger, Nicolas Partouche, Pierre Ly, Philippe Aubin, Nadia Naoui, Marie-Helene Schlageter, Cecile Bally, Elsa Miekoutima, Ramy Rahmé, Jacqueline Lehmann-Che, Lionel Ades, Pierre Fenaux, Bruno Cassinat, Stephane Giraudier,

Myelodysplastic syndromes and acute myeloid leukemia with TP53 mutations are characterized by frequent relapses, poor or short responses, and poor survival with the currently available therapies including chemotherapy and 5-azacitidine (AZA). PRIMA-1Met(APR-246,APR) is a methylated derivative of PRIMA-1, which induces apoptosis in human tumor cells through restoration of the transcriptional ... Read more >>

Haematologica (Haematologica)
[2020, 105(6):1539-1551]

Cited: 5 times

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How we manage adults with myelodysplastic syndrome.

Pierre Fenaux, Uwe Platzbecker, Lionel Ades,

The prognosis in Myelodysplastic syndromes (MDS), although recently refined by molecular studies, remains largely based on conventional prognostic scores [International Prognostic Scoring System (IPSS), revised IPSS], classifying patients into "lower risk" MDS (LR-MDS) and "higher risk" MDS (HR-MDS). In LR-MDS, treatment mainly aims at improving cytopenias, principally anaemia, while in ... Read more >>

Br. J. Haematol. (British journal of haematology)
[2020, 189(6):1016-1027]

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Germline DDX41 mutations define a significant entity within adult MDS/AML patients.

Marie Sébert, Marie Passet, Anna Raimbault, Ramy Rahmé, Emmanuel Raffoux, Flore Sicre de Fontbrune, Marco Cerrano, Samuel Quentin, Nadia Vasquez, Mélanie Da Costa, Nicolas Boissel, Hervé Dombret, Régis Peffault de Latour, Gérard Socié, Raphaël Itzykson, Pierre Fenaux, Jean Soulier, Lionel Adès, Emmanuelle Clappier,

Germline DDX41 mutations are involved in familial myelodysplastic syndromes (MDSs) and acute myeloid leukemias (AMLs). We analyzed the prevalence and characteristics of DDX41-related myeloid malignancies in an unselected cohort of 1385 patients with MDS or AML. Using targeted next-generation sequencing, we identified 28 different germline DDX41 variants in 43 unrelated ... Read more >>

Blood (Blood)
[2019, 134(17):1441-1444]

Cited: 3 times

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