François Delhommeau & Thierry Soussi
Chef(s) d'équipe(s) : François Delhommeau & Thierry Soussi
Faculty of Medicine, Sorbonne University - Saint-Antoine Campus - 10th and 11th floors - 27, rue Chaligny, 75012 Paris, France
UMR_S938 is a member of the Carnot OPALE Institute, The organization for Partnerships in Leukemia
www.opale.org
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General présentation
The "Hematopoietic and Leukemic Development" team is co-directed by Professors François Delhommeau (ORCID 0000-0002-4915-0734 ) and Thierry Soussi (ORCID 0000-0001-8184-3293). It includes 17 researchers or teacher-researchers (13 HDR), 5 engineers and technical staff, and annually hosts 2 to 5 PhD and post-doctoral students, 3 to 6 Master2, 2 to 4 Master1 and other interns (BTS, etc.). One of the strengths of this team is its multidisciplinarity (clinicians, cellular or molecular biologists, bioinformaticians) allowing an approach that goes from the bench to the patient's bed and vice versa leading to a transfer research close to clinical concerns.
The work carried out in the team addresses two fundamental aspects of hematology: the understanding of the mechanisms of development of acute myeloid leukemia (AML) and the study of hematopoiesis and erythropoiesis with a view to transfusion and cell therapy. Several groups are divided between these two axes while interacting closely.
Heterogeneity in the aetiology of acute myeloblastic leukaemia: a model for translational study.
Normal haematopoiesis has a pyramidal hierarchical organisation at the apex of which are the haematopoietic stem cells (HSC), capable of self-renewal and differentiation.
Somatic mutations accumulate with age in the blood cells of individuals without haematological disease, cytopenia or cytological abnormalities, defining the concept of age-related clonal haematopoiesis (AHC). These mutations frequently target oncogenes or tumour suppressor genes associated with leukaemogenesis. The presence of CH is associated with an increased risk of haematological malignancy (myelodysplastic syndrome (MDS), myeloproliferative neoplasm (MPN) or acute myeloblastic leukaemia (AML)). .
There are also hereditary myeloid haemopathies with a genetic predisposition linked to a germline mutation (GATA2, RUNX1 and CEBPA). They can be identified in paediatric patients and also in adults with MDS or AML.
Germline alterations in genes important for ribosome biogenesis are associated with neutropenia (e.g. Shwachman-Diamond syndrome) and a predisposition to the development of haematological malignancies.
Myeloid leukemias in adults and children: initiation and clonal evolution
(François Delhommeau, Pierre Hirsch, Hélène Lapillonne, Arnaud Petit, and Thierry Soussi)
Acute myeloblastic leukaemia (AML) is a haematological malignancy that constitutes a heterogeneous group of entities with variable clinical, biological, molecular and prognostic features.
Our group has deciphered the clonal architecture of AML. In addition, the team has developed tools to use clonal composition as a patient-specific marker to monitor residual disease. We focus our analyses on TP53-mutated AMLs outside those induced by chemotherapy or radiotherapy for a first cancer. These AMLs, with a very poor prognosis, can occur "de novo" or in the context of a myelodysplastic syndrome, a myeloproliferative syndrome or a predisposition syndrome in young patients, with a specific selection of mutant TP53 founder clones.
The genetic abnormalities associated with paediatric AMLs are different from those associated with adult patients, and the clinical presentation is also somewhat different. Genomic (exome or whole genome) and transcriptomic (RNA seq) analysis of paediatric or familial AMLs will help to better characterise the heterogeneity of these leukaemias and highlight new signalling pathways. The discovery of germline mutations of the PML gene in an AML family associated with a functional study highlighting the loss of function of this gene validates this genomic approach.
Ribosomopathies
(François Delhommeau, Mira El Khoury, Nawa Hachem and Jean-Alain Martignoles)
Ribosomopathies are diseases associated with ribosome abnormalities. These abnormalities can affect the structure or function of the ribosome or affect a gene related to ribosome biogenesis. Most ribosomopathies are classified as rare genetic diseases. Among them, Blackfan-Diamond Anemia (BDA) corresponding to congenital erythroblastopenia or Shwachman-Diamond Syndrome (SDS) associated with neutropenia and exocrine pancreatic insufficiency. The laboratory studies the mechanisms responsible for the specific phenotypes of ribosomopathies: for example the mechanism of neutropenia in SDS. In addition, the team has demonstrated and participated in the description of genetic compensation phenomena with the description of somatic mutations in the TP53 and EIF6 genes, respectively, in SDS. Approximately 30% of SDS patients will develop acute myeloblastic leukaemia (AML) as a result of the clonal evolution of cells with a TP53 mutation. SDS cell models have been developed to better understand the haematological complications of this disease.
TP53 and haematological malignancies
(François Delhommeau, Léa Rodriguez, Pierre Hirsh and Thierry Soussi)
TP53 abnormalities are associated with a poor prognosis in many haematological malignancies, whether of lymphoid (CLL, mantle cell lymphoma) or myeloid (AML) origin. More than 10,000 TP53 variants have been identified, but their distribution in the various types of cancer is heterogeneous and may be associated with various clinico-biological parameters. An analysis of nearly 1,000 CLL patients with TP53 alteration has led to the discovery of variants specifically associated with this haemopathy. In MLA, analyses also show a specific profile. A multifactorial analysis combining a machine learning approach capable of defining the pathogenicity of TP53 variants, coupled with transcriptomic studies of isogenic cell models expressing various p53 variants or patient samples will allow us to better understand this tumour heterogeneity and define better therapeutic management.
Artificial intelligence and imaging: applications to haematopoietic pathophysiology
(Daniel Stockholm, Manon Chossegros and François Delhommeau)
Biological diagnosis of blood diseases is based on the complete blood count (CBC), an automated analysis that frequently requires cytological examination of the blood smear under a microscope. For most blood diseases, such as acute myeloid leukaemia (AML), additional tests are required for a correct and complete diagnosis and prognosis, as well as appropriate follow-up tools. These necessary analyses include cytological observation of bone marrow smears and the use of flow cytometry, molecular biology, cytogenetics and genomics on blood and/or bone marrow samples.
The team is interested in the application of imaging techniques involving bioinformatics and more particularly Artificial Intelligence technologies to analyse these microscopy images in order to improve the quantitative analyses of haematopoietic cells in normal and pathological conditions.
Developments are thus underway to better identify abnormal cells in blood or bone marrow smears in order to accelerate cytological analyses to identify certain leukemias, for example.
Two areas are being explored:
- the analysis of slide scan images using conventional microscopy.
- the use and exploitation of a new type of microscopy with the obtaining of an "optical twin" by synthetic holography allowing a 3D representation of the figurative elements of the blood and bone marrow in the intensity phase and with extended resolution. The latter approach is a joint programme (LabCom) between the team and the company TRIBVN and is dedicated to the development of new approaches in next generation optical microscopy to better feed artificial intelligence tools for diagnosis, prognostic stratification and monitoring of blood diseases.
The two axes exploit in a complementary way artificial intelligence tools to take advantage of the large volume of data produced, pre-, per- and post-analytical: processing of digital objects, detection of rare events, identification and quantification of elements, establishment of a diagnosis, and prediction of biological, genomic and prognostic characteristics.
These tools should enable faster and more accurate diagnosis in haematology.
Role of dioxins in the induction of acute myeloid leukaemia
(Thi My Anh Neildez-Nguyen)
The events contributing to the development of acute myeloid leukaemias (AML) are part of a stepwise process. The first events are the acquisition of somatic mutations by haematopoietic stem cells, leading to clonal haematopoiesis. As not all clonal haematopoiesis is malignant, subsequent events are required to induce leukaemogenesis, such as exposure to environmental contaminants like dioxins, which disrupt the immune system. The impact of 2,3,7,8-tetrachloro-para-dioxin (TCDD) in this induction will be studied via miRNA profiling of cells constituting the tumour microenvironment (immune cells and stromal cells), in order to understand the mechanisms involved in the immune evasion of leukaemic cells.
Cellular differentiation: application to hematopoietic stem cells
(Laetitia Racine and Andras Paldi)
Our team studies the most fundamental aspects of cell differentiation. We are exploring the hypothesis that the cell's energy metabolism is the basic driver of differentiation and that the process itself is rather a self-organised/autopoietic process. This hypothesis contrasts with the general view that differentiation is a programmed and deterministic process. We use haematopoietic stem cells as an experimental model. We have shown that the cells respond rapidly to cytokine stimulation by a non-specific and generalised opening of the chromatin that generates the hyperexpression of a large number of genes. During the first two or three cell cycles, this so-called "multiprimed" state leads to instability and morphological fluctuations between two main forms. Thereafter, the cells stably adopt one or the other of these phenotypes corresponding to what is usually considered as progenitors. The availability of metabolic substrates such as glucose or amino acids strongly biases the phenotype of the cells. Our observations have a strong impact on the way stem cells are considered in normal and pathological haematopoiesis.
Ex vivo generation of haematopoietic stem cells and red blood cells
(Irène Bivas, Matias Brunet Manquat and Laurence Guyonneau-Harmand)
The French Blood Establishment supports two projects related to regenerative medicine.
1) The ex vivo production of functional red blood cells (RBCs) is a major challenge for transfusion therapy in the coming decades. We engineer HSCs to promote their erythroid commitment and improve their cell proliferation in order to develop a self-sustaining cell source capable of maintaining itself in culture in an undifferentiated state, and allowing continuous erythrocyte production with the aim of providing a therapeutic solution for alloimmunised patients.
2) The ex vivo generation of functional haematopoietic stem cells (HSC) from induced pluripotent stem cells (IPS). After 17 days of differentiation, using our transgene and stromal-free protocol, the appearance of HSCs is notable and some of them have a high reconstitution potential, i.e. robust production of myeloid, lymphoid and red blood cells in immunocompromised mice. Preliminary analyses suggest that the cells capable of engraftment are close to nascent HSCs or their immediate precursors, i.e. haemogenic endothelial cells. Using single cell sequencing, we are focusing on (i) exploring the population(s) with reconstitution capacity and their proximity to developmental pathways, as well as (ii) further characterising the grafted cells.
The Broad Spectrum of TP53 Mutations in CLL: Evidence of Multiclonality and Novel Mutation Hotspots. Lazarian, G., Theves, F., Hormi, M., Letestu, R., Eclache, V., Bidet, A., Cornillet-Lefebvre, P., Davi, F., Delabesse, E., Estienne, M. H., Etancelin, P., Kosmider, O., Laibe, S., Muller, M., Nadal, N., Naguib, D., Pastoret, C., Poulain, S., Sujobert, P., Veronese, L., Imache, S., Lefebvre, V., Cymbalista, F., Baran-Marszak, F., Soussi, T., and French Innovative Leukemia Organisation, F. I. L. O. Hum Mutation (2023) E159-E162. doi:10.1155/2023/4880113
The KMT2A recombinome of acute leukemias in 2023. Meyer, C., Larghero, P., Almeida Lopes, B., Burmeister, T., Gröger, D., Sutton, R., Venn, N. C., Cazzaniga, G., Corral Abascal, L., Tsaur, G., Fechina, L., Emerenciano, M., Pombo-de-Oliveira, M. S., Lund-Aho, T., Lundán, T., Montonen, M., Juvonen, V., Zuna, J., Trka, J., Ballerini, P., Lapillonne, H., Van der Velden, V. H. J., Sonneveld, E., Delabesse, E., de Matos, R. R. C., Silva, M. L. M., Bomken, S., Katsibardi, K., Keernik, M., Grardel, N., Mason, J., Price, R., Kim, J., Eckert, C., Lo Nigro, L., Bueno, C., Menendez, P., Zur Stadt, U., Gameiro, P., Sedék, L., Szczepański, T., Bidet, A., Marcu, V., Shichrur, K., Izraeli, S., Madsen, H. O., Schäfer, B. W., Kubetzko, S., Kim, R., Clappier, E., Trautmann, H., Brüggemann, M., Archer, P., Hancock, J., Alten, J., Möricke, A., Stanulla, M., Lentes, J., Bergmann, A. K., Strehl, S., Köhrer, S., Nebral, K., Dworzak, M. N., Haas, O. A., Arfeuille, C., Caye-Eude, A., Cavé, H., and Marschalek, R. Leukemia (2023) doi: 10.1038/s41375-023-01877-1
Somatic genetic alterations predict haematological progression in GATA2 deficiency. Largeaud, L., Collin, M., Monselet, N., Vergez, F., Fregona, V., Larcher, L., Hirsch, P., Duployez, N., Bidet, A., Luquet, I., Bustamante, J., Dufrechou, S., Prade, N., Nolla, M., Hamelle, C., Tavitian, S., Habib, C., Meynier, M., Bellanne-Chantelot, C., Donadieu, J., De Fontbrune, F. S., Fieschi, C., Ferster, A., Delhommeau, F., Delabesse, E., and Pasquet, M. Haematologica (2023) doi: 10.3324/haematol.2022.282250
Sec22b is a critical and nonredundant regulator of plasma cell maintenance. Bonaud, A., Gargowitsch, L., Gilbert, S. M., Rajan, E., Canales-Herrerias, P., Stockholm, D., Rahman, N. F., Collins, M. O., Taskiran, H., Hill, D. L., Alloatti, A., Alouche, N., Balor, S., Soldan, V., Gillet, D., Barbier, J., Bachelerie, F., Smith, K. G. C., Jellusova, J., Bruhns, P., Amigorena, S., Balabanian, K., Linterman, M. A., Peden, A. A., and Espéli, M. Proc Natl Acad Sci U S A (2023) 120, e2213056120. doi:10.1073/pnas.2213056120
Measurable Residual Disease and Fusion Partner Independently Predict Survival and Relapse Risk in Childhood KMT2A-Rearranged Acute Myeloid Leukemia: A Study by the International Berlin-Frankfurt-Münster Study Group. van Weelderen, R. E., Klein, K., Harrison, C. J., Jiang, Y., Abrahamsson, J., Arad-Cohen, N., Bart-Delabesse, E., Buldini, B., De Moerloose, B., Dworzak, M. N., Elitzur, S., Fernández Navarro, J. M., Gerbing, R. B., Goemans, B. F., de Groot-Kruseman, H. A., Guest, E., Ha, S. Y., Hasle, H., Kelaidi, C., Lapillonne, H., Leverger, G., Locatelli, F., Masetti, R., Miyamura, T., Norén-Nyström, U., Polychronopoulou, S., Rasche, M., Rubnitz, J. E., Stary, J., Tierens, A., Tomizawa, D., Zwaan, C. M., and Kaspers, G. J. L. J Clin Oncol (2023) JCO2202120. doi:10.1200/JCO.22.02120
Soussi, T. (2023). Letter’s to the editor. Hum Mol Genet ddad037. doi:10.1093/hmg/ddad037
Aid, Z., Robert, E., Lopez, C. K., Bourgoin, M., Boudia, F., Le Mene, M., Riviere, J., Baille, M., Benbarche, S., Renou, L., Fagnan, A., Thirant, C., Federici, L., Touchard, L., Lecluse, Y., Jetten, A., Geoerger, B., Lapillonne, H., Solary, E., Gaudry, M., Meshinchi, S., Pflumio, F., Auberger, P., Lobry, C., Petit, A., Jacquel, A., and Mercher, T. (2023). High caspase 3 and vulnerability to dual BCL2 family inhibition define ETO2::GLIS2 pediatric leukemia. Leukemia 37, 571-579. doi:10.1038/s41375-022-01800-0
Germline RUNX1 variants in paediatric patients in a French specialised centre. Liu, C., Ballerini, P., Nguyen, G., Mincheva, Z., Copin, B., Bouslama, B., Leverger, G., Petit, A., Favier, R., Lapillonne, H., and Boutroux, H. EJHaem (2023) 4, 145-152. doi:10.1002/jha2.594
Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia. Sebert, M., Gachet, S., Leblanc, T., Rousseau, A., Bluteau, O., Kim, R., Ben Abdelali, R., Sicre de Fontbrune, F., Maillard, L., Fedronie, C., Murigneux, V., Bellenger, L., Naouar, N., Quentin, S., Hernandez, L., Vasquez, N., Da Costa, M., Prata, P. H., Larcher, L., de Tersant, M., Duchmann, M., Raimbault, A., Trimoreau, F., Fenneteau, O., Cuccuini, W., Gachard, N., Auger, N., Tueur, G., Blanluet, M., Gazin, C., Souyri, M., Langa Vives, F., Mendez-Bermudez, A., Lapillonne, H., Lengline, E., Raffoux, E., Fenaux, P., Adès, L., Forcade, E., Jubert, C., Domenech, C., Strullu, M., Bruno, B., Buchbinder, N., Thomas, C., Petit, A., Leverger, G., Michel, G., Cavazzana, M., Gluckman, E., Bertrand, Y., Boissel, N., Baruchel, A., Dalle, J. H., Clappier, E., Gilson, E., Deriano, L., Chevret, S., Sigaux, F., Socié, G., Stoppa-Lyonnet, D., de Thé, H., Antoniewski, C., Bluteau, D., Peffault de Latour, R., and Soulier, J. Cell Stem Cell (2023) 30, 153-170.e9. doi:10.1016/j.stem.2023.01.006
Clinical and biological impact of ATP-binding cassette transporter activity in adult acute myeloid leukemia. Sourdeau, E., Suner, L., Memoli, M., Genthon, A., Feger, F., Soret, L., Abermil, N., Heuberger, L., Bilhou-Nabera, C., Guermouche, H., Favale, F., Lapusan, S., Chaquin, M., Hirschauer, C., Mohty, M., Legrand, O., Delhommeau, F., and Hirsch, P. Haematologica (2023) 108, 61-68. doi:10.3324/haematol.2022.280676
Characterization of lymphocyte profiles in children with syndromic obesity. Dieme, A., André, S., Lapillonne, H., Tounian, P., Clément, K., and Dubern, B. Arch Pediatr (2023) 30, 212-218. doi:10.1016/j.arcped.2023.02.009
TP53_PROF: a machine learning model to predict impact of missense mutations in TP53. Ben-Cohen, G., Doffe, F., Devir, M., Leroy, B., Soussi, T., and Rosenberg, S. Brief Bioinform (2022) 23, bbab524. doi:10.1093/bib/bbab524
TP53 mutations at codon 234 are associated with chlorambucil treatment in chronic lymphocytic leukemia. Lazarian, G., Theves, F., Hormi, M., Letestu, R., Eclache, V., Bidet, A., Cornillet-Lefebvre, P., Davi, F., Delabesse, E., Estienne, M. H., Etancelin, P., Kosmider, O., Laibe, S., Lode, L., Muller, M., Nadal, N., Naguib, D., Pastoret, C., Poulain, S., Sujobert, P., Veronese, L., Imache, S., Lefebvre, V., Cymbalista, F., Baran-Marszak, F., Soussi, T., and French Innovative Leukemia Organisation, F. I. L. O. Am J Hematol (2022) 97, E159-E162. doi:10.1002/ajh.26479
The epigenetic regulator RINF (CXXC5) maintains SMAD7 expression in human immature erythroid cells and sustains red blood cells expansion. Astori, A., Matherat, G., Munoz, I., Gautier, E. F., Surdez, D., Zermati, Y., Verdier, F., Zaidi, S., Feuillet, V., Kadi, A., Lauret, E., Delattre, O., Lefèvre, C., Fontenay, M., Ségal-Bendirdjian, E., Dusanter-Fourt, I., Bouscary, D., Hermine, O., Mayeux, P., and Pendino, F. Haematologica (2022) 107, 268-283. doi:10.3324/haematol.2020.263558
Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect. Tan, S., Kermasson, L., Hilcenko, C., Kargas, V., Traynor, D., Boukerrou, A. Z., Escudero-Urquijo, N., Faille, A., Bertrand, A., Rossmann, M., Goyenechea, B., Jin, L., Moreil, J., Alibeu, O., Beaupain, B., Bôle-Feysot, C., Fumagalli, S., Kaltenbach, S., Martignoles, J. A., Masson, C., Nitschké, P., Parisot, M., Pouliet, A., Radford-Weiss, I., Tores, F., de Villartay, J. P., Zarhrate, M., Koh, A. L., Phua, K. B., Reversade, B., Bond, P. J., Bellanné-Chantelot, C., Callebaut, I., Delhommeau, F., Donadieu, J., Warren, A. J., and Revy, P. Nat Commun (2022) 13, 3574. doi:10.1038/s41467-022-31316-1
Prognostic impact of early minimal residual disease combined with complete molecular evaluation in acute myeloid leukemia with mutated NPM1: a single center study. Memoli, M., Genthon, A., Favale, F., Lapusan, S., Johnson, N., Adaeva, R., Deswarte, C., Battipaglia, G., Malard, F., Duléry, R., Brissot, E., Banet, A., Van de Wyngaert, Z., Mohty, M., Delhommeau, F., Legrand, O., and Hirsch, P. Leuk Lymphoma (2022) 63, 2171-2179. doi:10.1080/10428194.2022.2064987
Prognostic impact of DDX41 germline mutations in intensively treated acute myeloid leukemia patients: an ALFA-FILO study. Duployez, N., Largeaud, L., Duchmann, M., Kim, R., Rieunier, J., Lambert, J., Bidet, A., Larcher, L., Lemoine, J., Delhommeau, F., Hirsch, P., Fenwarth, L., Kosmider, O., Decroocq, J., Bouvier, A., Le Bris, Y., Ochmann, M., Santagostino, A., Adès, L., Fenaux, P., Thomas, X., Micol, J. B., Gardin, C., Itzykson, R., Soulier, J., Clappier, E., Recher, C., Preudhomme, C., Pigneux, A., Dombret, H., Delabesse, E., and Sébert, M. Blood (2022) 140, 756-768. doi:10.1182/blood.2021015328
Prognostic impact of ABCA3 expression in adult and pediatric acute myeloid leukemia: an ALFA-ELAM02 joint study. Ceraulo, A., Lapillonne, H., Cheok, M. H., Preudhomme, C., Dombret, H., Terré, C., Lambert, J., Leverger, G., Bertrand, Y., Mortreux, F., and Wattel, E. Blood Adv (2022) 6, 2773-2777. doi:10.1182/bloodadvances.2021006040
Macrophage migration inhibitory factor is overproduced through EGR1 in TET2low resting monocytes. Pronier, E., Imanci, A., Selimoglu-Buet, D., Badaoui, B., Itzykson, R., Roger, T., Jego, C., Naimo, A., Francillette, M., Breckler, M., Wagner-Ballon, O., Figueroa, M. E., Aglave, M., Gautheret, D., Porteu, F., Bernard, O. A., Vainchenker, W., Delhommeau, F., Solary, E., and Droin, N. M. Commun Biol (2022) 5, 110. doi:10.1038/s42003-022-03057-w
Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases. Soussi, T., and Baliakas, P. Front Oncol (2022) 12, 808886. doi:10.3389/fonc.2022.808886
Isocitrate dehydrogenase inhibitors as a bridge to allogeneic stem cell transplant in relapsed or refractory acute myeloid leukaemia. Genthon, A., Dragoi, D., Memoli, M., Hirsch, P., Favale, F., Suner, L., Chaquin, M., Boncoeur, P., Marjanovic, Z., Bonnin, A., Sestili, S., Dulery, R., Malard, F., Brissot, E., Banet, A., van de Wyngaert, Z., Vekhoff, A., Delhommeau, F., Mohty, M., and Legrand, O. Br J Haematol (2022) 198, 780-784. doi:10.1111/bjh.18290
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure. Belal, S., Goudenège, D., Bocca, C., Dumont, F., Chao De La Barca, J. M., Desquiret-Dumas, V., Gueguen, N., Geffroy, G., Benyahia, R., Kane, S., Khiati, S., Bris, C., Aranyi, T., Stockholm, D., Inisan, A., Renaud, A., Barth, M., Simard, G., Reynier, P., Letournel, F., Lenaers, G., Bonneau, D., Chevrollier, A., and Procaccio, V. Biomedicines (2022) 10, 1665. doi:10.3390/biomedicines10071665
Global genome decompaction leads to stochastic activation of gene expression as a first step toward fate commitment in human hematopoietic cells. Parmentier, R., Racine, L., Moussy, A., Chantalat, S., Sudharshan, R., Papili Gao, N., Stockholm, D., Corre, G., Fourel, G., Deleuze, J. F., Gunawan, R., and Paldi, A. PLoS Biol (2022) 20, e3001849. doi:10.1371/journal.pbio.3001849
Germline ATG2B/GSKIP-containing 14q32 duplication predisposes to early clonal hematopoiesis leading to myeloid neoplasms. Pegliasco, J., Hirsch, P., Marzac, C., Isnard, F., Meniane, J. C., Deswarte, C., Pellet, P., Lemaitre, C., Leroy, G., Rabadan Moraes, G., Guermouche, H., Schmaltz-Panneau, B., Pasquier, F., Colas, C., Benusiglio, P. R., Bera, O., Bourhis, J. H., Brissot, E., Caron, O., Chraibi, S., Cony-Makhoul, P., Delaunay-Darivon, C., Lapusan, S., de Fontbrune, F. S., Fuseau, P., Najman, A., Vainchenker, W., Delhommeau, F., Micol, J. B., Plo, I., and Bellanné-Chantelot, C. Leukemia (2022) 36, 126-137. doi:10.1038/s41375-021-01319-w
Gaucher’s Disease. Suner, L., and Delhommeau, F. N Engl J Med (2022) 386, 1932. doi:10.1056/NEJMicm2116167
Ex vivo drug sensitivity profiling-guided treatment of a relapsed pediatric mixed-phenotype acute leukemia with venetoclax and azacitidine. Gonzales, F., Guilmatre, A., Barthélémy, A., Lapillonne, H., Pottier, N., Leverger, G., Petit, A., and Cheok, M. H. Pediatr Blood Cancer (2022) 69, e29678. doi:10.1002/pbc.29678
Evolutionary history of the p53 family DNA-binding domain: insights from an Alvinella pompejana homolog. Zhang, Q., Balourdas, D. I., Baron, B., Senitzki, A., Haran, T. E., Wiman, K. G., Soussi, T., and Joerger, A. C. Cell Death Dis (2022) 13, 214. doi:10.1038/s41419-022-04653-8
Colorectal Cancer Is Associated with the Presence of Cancer Driver Mutations in Normal Colon. Matas, J., Kohrn, B., Fredrickson, J., Carter, K., Yu, M., Wang, T., Gui, X., Soussi, T., Moreno, V., Grady, W. M., Peinado, M. A., and Risques, R. A. Cancer Res (2022) 82, 1492-1502. doi:10.1158/0008-5472.CAN-21-3607
Circulating cytokines present in multiple myeloma patients inhibit the osteoblastic differentiation of adipose stem cells. Kobari, L., Auclair, M., Piau, O., Ferrand, N., Zaoui, M., Delhommeau, F., Fève, B., Sabbah, M., and Garderet, L. Leukemia (2022) 36, 540-548. doi:10.1038/s41375-021-01428-6
Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity. Marin-Esteban, V., Youn, J., Beaupain, B., Jaracz-Ros, A., Barlogis, V., Fenneteau, O., Leblanc, T., Bellanger, F., Pellet, P., Buratti, J., Lapillonne, H., Bachelerie, F., Donadieu, J., and Bellanné-Chantelot, C. Haematologica (2022) 107, 765-769. doi:10.3324/haematol.2021.279254
Benign SNPs in the Coding Region of TP53: Finding the Needles in a Haystack of Pathogenic Variants. Soussi, T. Cancer Res (2022) 82, 3420-3431. doi:10.1158/0008-5472.CAN-22-0172
Bacterial Pulmonary Co-Infections on ICU Admission: Comparison in Patients with SARS-CoV-2 and Influenza Acute Respiratory Failure: A Multicentre Cohort Study. Delhommeau, G., Buetti, N., Neuville, M., Siami, S., Cohen, Y., Laurent, V., Mourvillier, B., Reignier, J., Goldgran-Toledano, D., Schwebel, C., Ruckly, S., de Montmollin, E., Souweine, B., Timsit, J. F., and Dupuis, C. Biomedicines (2022) 10, 2646. doi:10.3390/biomedicines10102646
Roux, B., Picou, F., Debeissat, C., Koubi, M., Gallay, N., Hirsch, P., Ravalet, N., Béné, M. C., Maigre, M., Hunault, M., Mosser, J., Etcheverry, A., Gyan, E., Delhommeau, F., Domenech, J., and Herault, O. (2022). Aberrant DNA methylation impacts HOX genes expression in bone marrow mesenchymal stromal cells of myelodysplastic syndromes and de novo acute myeloid leukemia. Cancer Gene Ther 29, 1263-1275. doi:10.1038/s41417-022-00441-w
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis. Lunati, A., Petit, A., Lapillonne, H., Gameiro, C., Saillour, V., Garel, C., Doummar, D., Qebibo, L., Aissat, A., Fanen, P., Bartolucci, P., Galactéros, F., Funalot, B., Burglen, L., and Mansour-Hendili, L. Am J Hematol (2021) 96, E121-E123. doi:10.1002/ajh.26099
VEXAS syndrome: still expanding the clinical phenotype. Oganesyan, A., Jachiet, V., Chasset, F., Hirsch, P., Hage-Sleiman, M., Fabiani, B., Duriez, P., Georgin-Lavialle, S., Delhommeau, F., Hakobyan, Y., Fain, O., Mekinian, A., and on behalf, M. I. N. H. E. M. O. N. Rheumatology (Oxford) (2021) 60, e321-e323. doi:10.1093/rheumatology/keab225
Unexplained recurrent miscarriages: predictive value of immune biomarkers and immunomodulatory therapies for live birth. Kolanska, K., Dabi, Y., Dechartres, A., Cohen, J., Ben Kraiem, Y., Selleret, L., Mathieu d’Argent, E., Placais, L., Cheloufi, M., Johanet, C., Rosefort, A., Bornes, M., Suner, L., Delhommeau, F., Ledée, N., Chabbert Buffet, N., Darai, E., Antoine, J. M., Fain, O., Kayem, G., and Mekinian, A. Am J Reprod Immunol (2021) 86, e13425. doi:10.1111/aji.13425
Unexplained recurrent implantation failures: Predictive factors of pregnancy and therapeutic management from a French multicentre study. Kolanska, K., Bendifallah, S., Cohen, J., Placais, L., Selleret, L., Johanet, C., Suner, L., Delhommeau, F., Chabbert-Buffet, N., Darai, E., Antoine, J. M., Kayem, G., Fain, O., Mathieu d’Argent, E., and Mekinian, A. J Reprod Immunol (2021) 145, 103313. doi:10.1016/j.jri.2021.103313
Somatic genetic rescue of a germline ribosome assembly defect. Tan, S., Kermasson, L., Hilcenko, C., Kargas, V., Traynor, D., Boukerrou, A. Z., Escudero-Urquijo, N., Faille, A., Bertrand, A., Rossmann, M., Goyenechea, B., Jin, L., Moreil, J., Alibeu, O., Beaupain, B., Bôle-Feysot, C., Fumagalli, S., Kaltenbach, S., Martignoles, J. A., Masson, C., Nitschké, P., Parisot, M., Pouliet, A., Radford-Weiss, I., Tores, F., de Villartay, J. P., Zarhrate, M., Koh, A. L., Phua, K. B., Reversade, B., Bond, P. J., Bellanné-Chantelot, C., Callebaut, I., Delhommeau, F., Donadieu, J., Warren, A. J., and Revy, P. Nat Commun (2021) 12, 5044. doi:10.1038/s41467-021-24999-5
Shwachman-Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review. Bou Mitri, F., Beaupain, B., Flejou, J. F., Patient, M., Okhremchuck, I., Blaise, D., Izadifar-Legrand, F., Martignoles, J. A., Delhommeau, F., Bellanne-Chantelot, C., Emile, J. F., and Donadieu, J. Pediatr Blood Cancer (2021) 8, e29071. doi:10.1002/pbc.29071
Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene. Doffe, F., Carbonnier, V., Tissier, M., Leroy, B., Martins, I., Mattsson, J. S. M., Micke, P., Pavlova, S., Pospisilova, S., Smardova, J., Joerger, A. C., Wiman, K. G., Kroemer, G., and Soussi, T. Cell Death Differ (2021) 28, 1477-1492. doi:10.1038/s41418-020-00672-0
Germline pathogenic variants in transcription factors predisposing to pediatric acute myeloid leukemia: results from the French ELAM02 trial. Fenwarth, L., Duployez, N., Marceau-Renaut, A., Chahla, W. A., Ducassou, S., Gandemer, V., Pasquet, M., Leblanc, T., Schneider, P., Domenech, C., Saultier, P., Leverger, G., Lapillonne, H., Preudhomme, C., and Petit, A. Haematologica (2021) 106, 908-912. doi:10.3324/haematol.2020.248872
Engraftment characterization of risk-stratified AML in NSGS mice. Díaz de la Guardia, R., Velasco-Hernandez, T., Gutiérrez-Agüera, F., Roca-Ho, H., Molina, O., Nombela-Arrieta, C., Bataller, A., Fuster, J. L., Anguita, E., Vives, S., Zamora, L., Nomdedeu, J., Gómez-Casares, M. T., Ramírez-Orellana, M., Lapillonne, H., Ramos-Mejia, V., Rodríguez-Manzaneque, J. C., Bueno, C., Lopez-Millan, B., and Menéndez, P. Blood Adv (2021) 5, 4842-4854. doi:10.1182/bloodadvances.2020003958
Dominance of an UBA1 mutant clone over a CALR mutant clone: from essential thrombocytemia to VEXAS. Hage-Sleiman, M., Lalevée, S., Guermouche, H., Favale, F., Chaquin, M., Battistella, M., Bouaziz, J. D., Bagot, M., Delhommeau, F., Cordoliani, F., and Hirsch, P. Haematologica (2021) 106, 3245-3248. doi:10.3324/haematol.2021.279418
Clonal dominance is an adverse prognostic factor in acute myeloid leukemia treated with intensive chemotherapy. Cerrano, M., Duchmann, M., Kim, R., Vasseur, L., Hirsch, P., Thomas, X., Quentin, S., Pasanisi, J., Passet, M., Rabian, F., Rahmé, R., Lengliné, E., Raffoux, E., Dhédin, N., Sébert, M., Maarek, O., Raimbault, A., Celli-Lebras, K., Adès, L., Fenaux, P., Boissel, N., Delhommeau, F., Soulier, J., Dombret, H., Clappier, E., Sujobert, P., and Itzykson, R. Leukemia (2021) 35, 712-723. doi:10.1038/s41375-020-0932-8
Atypical CD5 and CD10 coexpression in a splenic marginal zone lymphoma. Gimenez De Mestral, S., Delhommeau, F., Fabiani, B., Cervera, P., and Suner, L. EJHaem (2021) 2, 307-308. doi:10.1002/jha2.155
Assessing bleeding risk in 18 children with Osteogenesis imperfecta. Léguillier, T., Favier, R., Harroche, A., Lasne, D., Bachelot-Loza, C., Borgel, D., Boussaroque, A., Pascreau, T., Lallemant-Dudek, P., Gkalea, V., Haguet, M. C., Cormier-Daire, V., Beaudeux, J. L., Monnot, S., Lapillonne, H., Baujat, G., Forin, V., and Nivet-Antoine, V. Br J Haematol (2021) 192, 785-788. doi:10.1111/bjh.17303
A circulating subset of BRAFV600E -positive cells in infants with high-risk Langerhans cell histiocytosis treated with BRAF inhibitors. Poch, R., Le Louet, S., Hélias-Rodzewicz, Z., Hachem, N., Plat, G., Barkaoui, M. A., Lapillonne, H., Delhommeau, F., Emile, J. F., Donadieu, J., and Héritier, S. Br J Haematol (2021). 194, 745-749. doi:10.1111/bjh.17721
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