Full Text Journal Articles by
Author Samuel Quentin


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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, :]

Cited: 0 times

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BET inhibitors impair leukemic stem cell function only in defined oncogenic subgroups of acute myeloid leukaemias.

Aline Massé, Louise Roulin, Justine Pasanisi, Justine Penneroux, Stéphanie Gachet, Marc Delord, Ashfaq Ali, Antonio Alberdi, Jeannig Berrou, Marie Passet, Lucie Hernandez, Samuel Quentin, Claude Gardin, Emmanuel Raffoux, Lionel Adès, Thorsten Braun, Jean Soulier, Emmanuelle Clappier, Hervé Dombret, Alexandre Puissant, Raphael Itzykson,

Bromodomain and Extra-Terminal inhibitors (BETi) such as OTX015 are active in Acute Myeloid Leukaemias (AML). Their activity on Leukemic Stem Cells (LSCs) is less documented. We interrogated the anti-LSC activity of OTX015 in a niche-like long-term culture in 26 primary AML samples and validated our findings in vivo. OTX015 impaired ... Read more >>

Leuk. Res. (Leukemia research)
[2019, 87:106269]

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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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FLT3-ITD impedes retinoic acid, but not arsenic, responses in murine acute promyelocytic leukemias.

Cécile Esnault, Ramy Rahmé, Kim L Rice, Caroline Berthier, Coline Gaillard, Samuel Quentin, Anne-Lise Maubert, Scott Kogan, Hugues de Thé,

Acute promyelocytic leukemia (APL) is often associated with activating FLT3 signaling mutations. These are highly related to hyperleukocytosis, a major adverse risk factor with chemotherapy-based regimens. APL is a model for oncogene-targeted therapies: all-trans retinoic acid (ATRA) and arsenic both target and degrade its ProMyelocytic Leukemia/Retinoic Acid Receptor α (PML/RARA) ... Read more >>

Blood (Blood)
[2019, 133(13):1495-1506]

Cited: 7 times

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Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum.

Alain Sarasin, Samuel Quentin, Nathalie Droin, Mourad Sahbatou, Véronique Saada, Nathalie Auger, Yannick Boursin, Philippe Dessen, Anna Raimbault, Vahid Asnafi, Jean-Luc Schmutz, Alain Taïeb, Carlos F M Menck, Filippo Rosselli, Laurianne Drieu La Rochelle, Caroline Robert, Flore Sicre de Fontbrune, Marie Sébert, Thierry Leblanc, Patricia Kannouche, Stéphane De Botton, Eric Solary, Jean Soulier,

Blood (Blood)
[2019, 133(25):2718-2724]

Cited: 2 times

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PAX5 P80R mutation identifies a novel subtype of B-cell precursor acute lymphoblastic leukemia with favorable outcome.

Marie Passet, Nicolas Boissel, François Sigaux, Colombe Saillard, Mario Bargetzi, Ibrahima Ba, Xavier Thomas, Carlos Graux, Yves Chalandon, Thibaut Leguay, Etienne Lengliné, Johanna Konopacki, Samuel Quentin, Eric Delabesse, Marina Lafage-Pochitaloff, Cédric Pastoret, Nathalie Grardel, Vahid Asnafi, Véronique Lhéritier, Jean Soulier, Hervé Dombret, Emmanuelle Clappier, ,

Blood (Blood)
[2019, 133(3):280-284]

Cited: 2 times

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Granulomonocytic progenitors are key target cells of azacytidine in higher risk myelodysplastic syndromes and acute myeloid leukemia.

Ashfaq Ali, Justine Penneroux, Reinaldo Dal Bello, Aline Massé, Samuel Quentin, Ashwin Unnikrishnan, Lucie Hernandez, Emmanuel Raffoux, Raouf Ben Abdelali, Aline Renneville, Claude Preudhomme, John Pimanda, Hervé Dombret, Jean Soulier, Pierre Fenaux, Emmanuelle Clappier, Lionel Adès, Alexandre Puissant, Raphael Itzykson,

Leukemia (Leukemia)
[2018, 32(8):1856-1860]

Cited: 0 times

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A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Olivier Bluteau, Marie Sebert, Thierry Leblanc, Régis Peffault de Latour, Samuel Quentin, Elodie Lainey, Lucie Hernandez, Jean-Hugues Dalle, Flore Sicre de Fontbrune, Etienne Lengline, Raphael Itzykson, Emmanuelle Clappier, Nicolas Boissel, Nadia Vasquez, Mélanie Da Costa, Julien Masliah-Planchon, Wendy Cuccuini, Anna Raimbault, Louis De Jaegere, Lionel Adès, Pierre Fenaux, Sébastien Maury, Claudine Schmitt, Marc Muller, Carine Domenech, Nicolas Blin, Bénédicte Bruno, Isabelle Pellier, Mathilde Hunault, Stéphane Blanche, Arnaud Petit, Guy Leverger, Gérard Michel, Yves Bertrand, André Baruchel, Gérard Socié, Jean Soulier,

Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 patients (from 173 families) with BMF of suspected inherited origin but unresolved diagnosis after medical evaluation and Fanconi anemia exclusion. All ... Read more >>

Blood (Blood)
[2018, 131(7):717-732]

Cited: 35 times

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Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.

Julien Masliah-Planchon, Céline Dupont, George Vartzelis, Aurélien Trimouille, Eléonore Eymard-Pierre, Mathilde Gay-Bellile, Florence Renaldo, Imen Dorboz, Cécile Pagan, Samuel Quentin, Monique Elmaleh, Christina Kotsogianni, Elissavet Konstantelou, Séverine Drunat, Anne-Claude Tabet, Odile Boespflug-Tanguy,

BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 gene is located in Xq22, PMD affects mostly boys. METHODS AND RESULTS: Here ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2015, 16:77]

Cited: 2 times

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Reversal of microRNA-150 silencing disadvantages crizotinib-resistant NPM-ALK(+) cell growth.

Coralie Hoareau-Aveilla, Thibaud Valentin, Camille Daugrois, Cathy Quelen, Géraldine Mitou, Samuel Quentin, Jinsong Jia, Salvatore Spicuglia, Pierre Ferrier, Monica Ceccon, Sylvie Giuriato, Carlo Gambacorti-Passerini, Pierre Brousset, Laurence Lamant, Fabienne Meggetto,

The regulatory microRNA miR-150 is involved in the development of hemopathies and is downregulated in T-lymphomas, such as anaplastic large-cell lymphoma (ALCL) tumors. ALCL is defined by the presence or absence of translocations that activate the anaplastic lymphoma kinase (ALK), with nucleophosmin-ALK (NPM-ALK) fusions being the most common. Here, we ... Read more >>

J. Clin. Invest. (The Journal of clinical investigation)
[2015, 125(9):3505-3518]

Cited: 18 times

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Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in non-Hodgkin lymphoma.

David Guenat, Samuel Quentin, Carmelo Rizzari, Catarina Lundin, Tiziana Coliva, Patrick Edery, Helen Fryssira, Laurent Bermont, Christophe Ferrand, Jean Soulier, Christophe Borg, Pierre-Simon Rohrlich,

Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region ... Read more >>

J Hematol Oncol (Journal of hematology & oncology)
[2014, 7:82]

Cited: 4 times

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Cullin7: a new gene involved in liver carcinogenesis related to metabolic syndrome.

Valerie Paradis, Miguel Albuquerque, Mouniya Mebarki, Lucie Hernandez, Stephane Zalinski, Samuel Quentin, Jacques Belghiti, Jean Soulier, Pierre Bedossa,

BACKGROUND: Metabolic syndrome (MS) is an emerging risk factor in hepatocellular carcinoma (HCC). HCC related to MS may occur either in advanced fibrosis or before the development of cirrhosis, suggesting involvement of different molecular pathways according to the features of background liver. OBJECTIVE: To investigate genomic aberrations in HCC related ... Read more >>

Gut (Gut)
[2013, 62(6):911-919]

Cited: 15 times

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Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Sandrine Vuillaumier-Barrot, Céline Bouchet-Séraphin, Malika Chelbi, Louise Devisme, Samuel Quentin, Steven Gazal, Annie Laquerrière, Catherine Fallet-Bianco, Philippe Loget, Sylvie Odent, Dominique Carles, Anne Bazin, Jacqueline Aziza, Alix Clemenson, Fabien Guimiot, Maryse Bonnière, Sophie Monnot, Christine Bole-Feysot, Jean-Pierre Bernard, Laurence Loeuillet, Marie Gonzales, Koryna Socha, Bernard Grandchamp, Tania Attié-Bitach, Férechté Encha-Razavi, Nathalie Seta,

Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a "cobblestone" brain surface and ventricular enlargement. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal-recessive ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2012, 91(6):1135-1143]

Cited: 69 times

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Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.

Andrée Delahaye, Pierre Bitoun, Séverine Drunat, Marion Gérard-Blanluet, Nicolas Chassaing, Annick Toutain, Alain Verloes, Frédérique Gatelais, Marie Legendre, Laurence Faivre, Sandrine Passemard, Azzedine Aboura, Sophie Kaltenbach, Samuel Quentin, Céline Dupont, Anne-Claude Tabet, Serge Amselem, Jacques Elion, Pierre Gressens, Eva Pipiras, Brigitte Benzacken,

In 65 patients, who had unexplained ocular developmental anomalies (ODAs) with at least one other birth defect and/or intellectual disability, we performed oligonucleotide comparative genome hybridisation-based microarray analysis (array-CGH; 105A or 180K, Agilent Technologies). In four patients, array-CGH identified clinically relevant deletions encompassing a gene known to be involved in ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2012, 20(5):527-533]

Cited: 11 times

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First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.

Eric Pasmant, Philippe Goussard, Laetitia Baranes, Ingrid Laurendeau, Samuel Quentin, Philippe Ponsot, Yann Consigny, Olivier Farges, Bertrand Condat, Dominique Vidaud, Michel Vidaud, Jian-Min Chen, Béatrice Parfait,

The wide clinical spectrum of the ABCB4 gene (ATP-binding cassette subfamily B member 4) deficiency syndromes in humans includes low phospholipid-associated cholelithiasis (LPAC), intrahepatic cholestasis of pregnancy (ICP), oral contraceptives-induced cholestasis (CIC), and progressive familial intrahepatic cholestasis type 3 (PFIC3). No ABCB4 mutations are found in a significant proportion of ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2012, 20(3):277-282]

Cited: 12 times

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Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions.

Samuel Quentin, Wendy Cuccuini, Raphael Ceccaldi, Olivier Nibourel, Corinne Pondarre, Marie-Pierre Pagès, Nadia Vasquez, Catherine Dubois d'Enghien, Jérôme Larghero, Régis Peffault de Latour, Vanderson Rocha, Jean-Hugues Dalle, Pascale Schneider, Mauricette Michallet, Gérard Michel, André Baruchel, François Sigaux, Eliane Gluckman, Thierry Leblanc, Dominique Stoppa-Lyonnet, Claude Preudhomme, Gérard Socié, Jean Soulier,

Fanconi anemia (FA) is a genetic condition associated with bone marrow (BM) failure, myelodysplasia (MDS), and acute myeloid leukemia (AML). We studied 57 FA patients with hypoplastic or aplastic anemia (n = 20), MDS (n = 18), AML (n = 11), or no BM abnormality (n = 8). BM samples ... Read more >>

Blood (Blood)
[2011, 117(15):e161-70]

Cited: 74 times

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Incidence and prognostic value of TET2 alterations in de novo acute myeloid leukemia achieving complete remission.

Olivier Nibourel, Olivier Kosmider, Meyling Cheok, Nicolas Boissel, Aline Renneville, Nathalie Philippe, Hervé Dombret, François Dreyfus, Bruno Quesnel, Sandrine Geffroy, Samuel Quentin, Catherine Roche-Lestienne, Jean-Michel Cayuela, Christophe Roumier, Pierre Fenaux, William Vainchenker, Olivier A Bernard, Jean Soulier, Michaëla Fontenay, Claude Preudhomme,

Mutations of the ten eleven translocation 2 gene (TET2) have recently been reported in myelodysplastic syndrome and myeloproliferative neoplasms. We analyzed the incidence and prognostic value of TET2 point mutations and other genomic alterations by direct sequencing and single nucleotide polymorphism microarray analysis in 111 de novo acute myeloid leukemia, ... Read more >>

Blood (Blood)
[2010, 116(7):1132-1135]

Cited: 70 times

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