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Article ; Online: Acute myeloid leukaemia with double minute chromosomes encompassing the 8q24 region.

Podvin, Benjamin / Guermouche, Hélène / Fournier, Elise / Berthon, Céline / Duployez, Nicolas / Roche-Lestienne, Catherine

British journal of haematology

2022 Volume 198, Issue 3, Page(s) 413

MeSH term(s)	Chromosome Aberrations ; Chromosomes ; Humans ; Leukemia, Myeloid, Acute/genetics
Language	English
Publishing date	2022-05-23
Publishing country	England
Document type	Journal Article
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.18223
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Article ; Online: A new combination of monocytic scores to support diagnosis of chronic myelomonocytic leukemia according to novel classifications.

Podvin, Benjamin / Soenen, Valérie / Dumezy, Florent / Herlem, Julien / Berthon, Céline / Guermouche, Hélène / Thibaud, Vincent / Pascal, Laurent / Duployez, Nicolas / Charpentier, Agnès

International journal of laboratory hematology

2023 Volume 45, Issue 5, Page(s) 791–794

MeSH term(s)	Humans ; Leukemia, Myelomonocytic, Chronic/diagnosis ; Monocytes ; Leukemia, Monocytic, Acute/diagnosis
Language	English
Publishing date	2023-03-26
Publishing country	England
Document type	Letter
ZDB-ID	2268590-X
ISSN	1751-553X ; 1751-5521 ; 0141-9854
ISSN (online)	1751-553X
ISSN	1751-5521 ; 0141-9854
DOI	10.1111/ijlh.14067
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Zs.A 1499: Show issues

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Article ; Online: Clinical and biological impact of ATP-binding cassette transporter activity in adult acute myeloid leukemia.

Sourdeau, Elise / Suner, Ludovic / Memoli, Mara / Genthon, Alexis / Feger, Frédéric / Soret, Lou / Abermil, Nasséra / Heuberger, Laurence / Bilhou-Nabera, Chrystele / Guermouche, Hélène / Favale, Fabrizia / Lapusan, Simona / Chaquin, Michael / Hirschauer, Claire / Mohty, Mohamad / Legrand, Ollivier / Delhommeau, François / Hirsch, Pierre

Haematologica

2023 Volume 108, Issue 1, Page(s) 61–68

Abstract: Chemotherapy resistance is the main cause of treatment failure in acute myeloid leukemia (AML) and has been related to ATP-binding cassette (ABC) transporter activity. However, the links between ABC activity, immunophenotype, and molecular AML parameters ...

Abstract	Chemotherapy resistance is the main cause of treatment failure in acute myeloid leukemia (AML) and has been related to ATP-binding cassette (ABC) transporter activity. However, the links between ABC activity, immunophenotype, and molecular AML parameters have been poorly evaluated. Moreover, the prognostic value of ABC activity, when compared to new molecular markers, is unknown. Here we investigated the links between ABC activity, as evaluated by JC-1 +/- cyclosporine A assay, and immunophenotypic, cytogenetic, molecular, and targeted next-generation sequencing features in 361 AML patients. High ABC activity was found in 164 patients and was significantly associated with less proliferating disease, an immature immunophenotype (expression of CD34, HLA-DR, CD117, CD13), and gene mutations defining AML as belonging to secondary-type ontogenic groups. Low ABC activity was associated with more mature myeloid differentiation (CD34-, cyMPO+, CD15+, CD33+) or monocytic commitment (CD64+, CD4+weak, CD14+), with NPM1 mutations, KMT2A rearrangements, and core-binding factor gene fusions, hallmarks of the de novo-type AML ontogeny. ABC activity was one of the major factors we identified using a random forest model for early prediction of AML ontogeny. In the 230 patients evaluated at diagnosis and intensively treated, high ABC activity was a predictive factor for primary resistance, and in multivariate analysis including full molecular data, an independent factor for event-free survival (P=0.0370). JC-1 +/- cyclosporine A assay could be used at diagnosis to predict AML ontogeny and to complete prognosis evaluation in addition to new molecular markers.
MeSH term(s)	Humans ; Adult ; Cyclosporine/therapeutic use ; Leukemia, Myeloid, Acute/diagnosis ; Leukemia, Myeloid, Acute/drug therapy ; Leukemia, Myeloid, Acute/genetics ; HLA-DR Antigens ; Antigens, CD34 ; Prognosis ; Immunophenotyping
Chemical Substances	5,5',6,6'-tetrachloro-1,1',3,3'-tetraethylbenzimidazolocarbocyanine (21527-78-6) ; Cyclosporine (83HN0GTJ6D) ; HLA-DR Antigens ; Antigens, CD34
Language	English
Publishing date	2023-01-01
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2022.280676
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Article ; Online: Modulation of bone marrow and peripheral blood cytokine levels by age and clonal hematopoiesis in healthy individuals.

Ravalet, Noémie / Guermouche, Hélène / Hirsch, Pierre / Picou, Frédéric / Foucault, Amélie / Gallay, Nathalie / Martignoles, Jean-Alain / Beaud, Jenny / Suner, Ludovic / Deswarte, Caroline / Lachot, Sébastien / Rault, Emmanuelle / Largeaud, Laëtitia / Gissot, Valérie / Béné, Marie-Christine / Gyan, Emmanuel / Delhommeau, François / Herault, Olivier

Clinical immunology (Orlando, Fla.)

2023 Volume 255, Page(s) 109730

Abstract: Aging is associated with bone marrow (BM) inflammaging and, in some individuals, with the onset of clonal hematopoiesis (CH) of indeterminate potential. In this study conducted on 94 strictly healthy volunteers (18 to 80 yo), we measured BM and ... ...

Abstract	Aging is associated with bone marrow (BM) inflammaging and, in some individuals, with the onset of clonal hematopoiesis (CH) of indeterminate potential. In this study conducted on 94 strictly healthy volunteers (18 to 80 yo), we measured BM and peripheral blood (PB) plasma levels of 49 hematopoietic and inflammatory cytokines. With aging, 7 cytokines increased in BM (FLT3L, CXCL9, HGF, FGF-2, CCL27, IL-16, IL-18) and 8 decreased (G-CSF, TNF, IL-2, IL-15, IL-17A, CCL7, IL-4, IL-10). In PB, 10 cytokines increased with age (CXCL9, FLT3L, CCL27, CXCL10, HGF, CCL11, IL-16, IL-6, IL-1 beta, CCL2). CH was associated with higher BM levels of MIF and IL-1 beta, lower BM levels of IL-9 and IL-5 and higher PB levels of IL-15, VEGF-A, IL-2, CXCL8, CXCL1 and G-CSF. These reference values provide a useful tool to investigate anomalies related to inflammaging and potentially leading to the onset of age-related myeloid malignancies or inflammatory conditions.
MeSH term(s)	Humans ; Bone Marrow ; Cytokines ; Interleukin-1beta ; Interleukin-15 ; Clonal Hematopoiesis ; Interleukin-16 ; Interleukin-2 ; Granulocyte Colony-Stimulating Factor ; Bone Marrow Cells ; Hematopoiesis
Chemical Substances	Cytokines ; Interleukin-1beta ; Interleukin-15 ; Interleukin-16 ; Interleukin-2 ; Granulocyte Colony-Stimulating Factor (143011-72-7)
Language	English
Publishing date	2023-08-09
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1459903-x
ISSN	1521-7035 ; 1521-6616
ISSN (online)	1521-7035
ISSN	1521-6616
DOI	10.1016/j.clim.2023.109730
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Article ; Online: Whole-genome optical mapping to elucidate myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions.

Podvin, Benjamin / Roynard, Pauline / Boudry, Augustin / Guermouche, Hélène / Daudignon, Agnès / Terriou, Louis / Bouabdelli, Walid / Salameh, Maha / Grardel, Nathalie / Duployez, Nicolas / Roche-Lestienne, Catherine

Leukemia research

2022 Volume 123, Page(s) 106972

MeSH term(s)	Humans ; Protein-Tyrosine Kinases ; Myeloproliferative Disorders/genetics ; Eosinophilia/genetics ; Gene Fusion ; Neoplasms ; Oncogene Proteins, Fusion/genetics
Chemical Substances	Protein-Tyrosine Kinases (EC 2.7.10.1) ; Oncogene Proteins, Fusion
Language	English
Publishing date	2022-10-21
Publishing country	England
Document type	Letter
ZDB-ID	752396-8
ISSN	1873-5835 ; 0145-2126
ISSN (online)	1873-5835
ISSN	0145-2126
DOI	10.1016/j.leukres.2022.106972
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Article ; Online: Subclonal acquisition of a BCR::ABL1 fusion in a chronic myelomonocytic leukemia.

Podvin, Benjamin / Guermouche, Hélène / Roynard, Pauline / Goursaud, Laure / Berthon, Céline / Ouafi, Mahdi / Fourner, Elise / Duployez, Nicolas / Nibourel, Olivier / Roche-Lestienne, Catherine

Annals of hematology

2022 Volume 101, Issue 9, Page(s) 2093–2095

MeSH term(s)	Fusion Proteins, bcr-abl/genetics ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics ; Leukemia, Myelomonocytic, Chronic/genetics ; Leukemia, Myelomonocytic, Juvenile
Chemical Substances	Fusion Proteins, bcr-abl (EC 2.7.10.2)
Language	English
Publishing date	2022-05-13
Publishing country	Germany
Document type	Letter
ZDB-ID	1064950-5
ISSN	1432-0584 ; 0939-5555 ; 0945-8077
ISSN (online)	1432-0584
ISSN	0939-5555 ; 0945-8077
DOI	10.1007/s00277-022-04861-4
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Article: La néoplasie myéloïde associée à un réarrangement de PDGFRB : une pathologie rare de diagnostic difficile.

Bontoux, Christophe / Badaoui, Bouchra / Abermil, Nassera / Tarfi, Sihem / Guermouche, Hélène / Dubois, Sydney / Roy, Lydia / Xuan, Juliette Vo / Quang, Violaine Tran / Wang, Luojun / Favre, Loetitia / Poullot, Elsa / Michel, Marc / Sloma, Ivan / Crickx, Etienne / Pécriaux, Adrien

Annales de pathologie

2022 Volume 42, Issue 6, Page(s) 481–487

Abstract: In the latest World Health Organization classification (WHO), eosinophilic disorders represent a group of rare pathologic conditions with highly heterogeneous pathophysiology. In this report, we describe a case of myeloid neoplasm associated with ... ...

Title translation	Myeloid neoplasms associated with rearrangement of PDGFRB: A rare and tricky disease.
Abstract	In the latest World Health Organization classification (WHO), eosinophilic disorders represent a group of rare pathologic conditions with highly heterogeneous pathophysiology. In this report, we describe a case of myeloid neoplasm associated with eosinophilia and rearrangement of PDGFRB gene in a 67-year-old-male patient hospitalized with cerebellous ataxia. Initial investigations showed a bicytopenia with hypereosinophilia varying from 1.1 to 1.6×10
MeSH term(s)	Humans ; Male ; Aged ; Receptor, Platelet-Derived Growth Factor beta/genetics ; Imatinib Mesylate/therapeutic use ; In Situ Hybridization, Fluorescence ; Immunoglobulins, Intravenous/genetics ; Myeloproliferative Disorders/complications ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/genetics ; Eosinophilia/genetics ; Eosinophilia/diagnosis ; Eosinophilia/therapy ; Hematologic Neoplasms
Chemical Substances	Receptor, Platelet-Derived Growth Factor beta (EC 2.7.10.1) ; Imatinib Mesylate (8A1O1M485B) ; Immunoglobulins, Intravenous ; PDGFRB protein, human (EC 2.7.10.1)
Language	French
Publishing date	2022-08-29
Publishing country	France
Document type	Case Reports ; English Abstract ; Journal Article
ZDB-ID	225720-8
ISSN	0242-6498
ISSN	0242-6498
DOI	10.1016/j.annpat.2022.03.005
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Article ; Online: Dominance of an

Hage-Sleiman, Mehdi / Lalevée, Sophie / Guermouche, Hélène / Favale, Fabrizia / Chaquin, Michael / Battistella, Maxime / Bouaziz, Jean-David / Bagot, Martine / Delhommeau, François / Cordoliani, Florence / Hirsch, Pierre

Haematologica

2021 Volume 106, Issue 12, Page(s) 3245–3248

MeSH term(s)	Calreticulin/genetics ; Clone Cells ; Humans ; Mutation ; Thrombocythemia, Essential/diagnosis ; Thrombocythemia, Essential/genetics
Chemical Substances	Calreticulin
Language	English
Publishing date	2021-12-01
Publishing country	Italy
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2333-4
ISSN	1592-8721 ; 0017-6567 ; 0390-6078
ISSN (online)	1592-8721
ISSN	0017-6567 ; 0390-6078
DOI	10.3324/haematol.2021.279418
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Article ; Online: Characterization of the dynamics of human cytomegalovirus resistance to antiviral drugs by ultra-deep sequencing.

Guermouche, Hélène / Burrel, Sonia / Mercier-Darty, Mélanie / Kofman, Thomas / Rogier, Olivier / Pawlotsky, Jean-Michel / Boutolleau, David / Rodriguez, Christophe

Antiviral research

2019 Volume 173, Page(s) 104647

Abstract: Prophylactic or preemptive treatment strategies are required to prevent human cytomegalovirus (CMV) infections in transplant recipients. However, treatment failure occurs when CMV resistant-associated variants (RAVs) are selected. Although the diversity ... ...

Abstract	Prophylactic or preemptive treatment strategies are required to prevent human cytomegalovirus (CMV) infections in transplant recipients. However, treatment failure occurs when CMV resistant-associated variants (RAVs) are selected. Although the diversity of CMV is lower than that of RNA viruses, CMV appears to show some genetic instability, with possible minor emerging resistance that may be undetectable by Sanger sequencing. We aimed to examine CMV-resistance mutations over time by ultra-deep sequencing (UDS) and Sanger sequencing in a kidney transplant recipient experiencing CMV infection. This patient showed a transient response to three different antiviral drugs (valganciclovir, foscarnet, and maribavir) and four episodes of CMV resistance over two years. The full-length UL97 (2.3kpb) and partial UL54 (2.4kpb) CMV genes were studied by UDS and Sanger sequencing and linkage mutations calculated to determine RAVs. We detected four major and five minor resistance mutations. Minor resistant variants (2-20%) were detected by UDS, whereas major resistance substitutions (>20%) were identified by both UDS and Sanger method. We detected cross-resistance to three drugs, despite high CMV loads, suggesting that the fitness of the viral mutants was not impaired. In conclusion, CMV showed complex dynamic of resistance under antiviral drug pressure, as described for highly variable viruses. The emergence of successive RAVs constitutes a clinically challenging complication and contributes to the difficulty of therapeutic management of patients.
MeSH term(s)	Aged ; Alleles ; Amino Acid Substitution ; Antiviral Agents/pharmacology ; Antiviral Agents/therapeutic use ; Cytomegalovirus/drug effects ; Cytomegalovirus/genetics ; Cytomegalovirus Infections/drug therapy ; Cytomegalovirus Infections/virology ; Drug Resistance, Viral ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Immunocompromised Host ; Microbial Sensitivity Tests ; Mutation ; Transplant Recipients ; Viral Load
Chemical Substances	Antiviral Agents
Language	English
Publishing date	2019-11-07
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	306628-9
ISSN	1872-9096 ; 0166-3542
ISSN (online)	1872-9096
ISSN	0166-3542
DOI	10.1016/j.antiviral.2019.104647
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Article ; Online: Knockdown of Human AMPK Using the CRISPR/Cas9 Genome-Editing System.

Grenier, Adrien / Sujobert, Pierre / Olivier, Séverine / Guermouche, Hélène / Mondésir, Johanna / Kosmider, Olivier / Viollet, Benoit / Tamburini, Jérôme

Methods in molecular biology (Clifton, N.J.)

2018 Volume 1732, Page(s) 171–194

Abstract: AMP-activated protein kinase (AMPK) is a critical energy sensor, regulating signaling networks involved in pathology including metabolic diseases and cancer. This increasingly recognized role of AMPK has prompted tremendous research efforts to develop ... ...

Abstract	AMP-activated protein kinase (AMPK) is a critical energy sensor, regulating signaling networks involved in pathology including metabolic diseases and cancer. This increasingly recognized role of AMPK has prompted tremendous research efforts to develop new pharmacological AMPK activators. To precisely study the role of AMPK, and the specificity and activity of AMPK activators in cellular models, genetic AMPK inactivating tools are required. We report here methods for genetic inactivation of AMPK α1/α2 catalytic subunits in human cell lines by the CRISPR/Cas9 technology, a recent breakthrough technique for genome editing.
MeSH term(s)	AMP-Activated Protein Kinases/genetics ; CRISPR-Cas Systems/genetics ; Gene Editing/methods ; Gene Knockdown Techniques/methods ; Genetic Vectors/genetics ; HEK293 Cells ; Humans ; Lentivirus/genetics ; Protein Subunits/genetics ; RNA, Guide, CRISPR-Cas Systems/genetics ; Signal Transduction/genetics ; Transfection/methods
Chemical Substances	Protein Subunits ; RNA, Guide, CRISPR-Cas Systems ; PRKAA2 protein, human (EC 2.7.11.1) ; AMP-Activated Protein Kinases (EC 2.7.11.31) ; PRKAA1 protein, human (EC 2.7.11.31)
Language	English
Publishing date	2018-02-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-4939-7598-3_11
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