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1. Myelodysplastic disorders carrying both isolated del(5q) and JAK2V617F mutation: concise review, with focus on lenalidomide therapy

Author

Musto P, Simeon V, Guariglia R, Bianchino G, Grieco V, Nozza F, La Rocca F, Marziano G, Lalinga AV, Fabiani E, Voso MT, Scaravaglio P, Mecucci C, and D'Arena G

Subjects
Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Pellegrino Musto,1 Vittorio Simeon,2 Roberto Guariglia,3 Gabriella Bianchino,4 Vitina Grieco,4 Filomena Nozza,4 Francesco La Rocca,2 Gioacchino Marziano,1 Anna Vittoria Lalinga,5 Emiliano Fabiani,6 Maria Teresa Voso,6 Patrizia Scaravaglio,7 Cristina Mecucci,8 Giovanni D'Arena31Scientific Direction, 2Laboratory of Preclinical and Translational Research, 3Unit of Hematology and Stem Cell Transplantation, 4Laboratory of Clinical Research and Advanced Diagnostics, 5Pathology Unit, IRCCS, Centro di Riferimento Oncologico della Basilicata, Rionero in Vulture, Italy; 6Department of Hematology, Universita Cattolica del Sacro Cuore, Rome, Italy; 7Laboratory of Internal Medicine and Hematology, S Luigi Gonzaga Hospital, Orbassano, Italy; 8Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, ItalyAbstract: The concomitant presence of del(5q) and JAK2V617F mutation is an infrequent event which occurs in rare patients with peculiar cytogenetic, molecular, morphological and clinical features, resembling those of both myelodysplastic syndromes and myeloproliferative neoplasms. Lenalidomide may induce rapid, profound, and long-lasting responses in a subset of these patients. However, the mechanism(s) by which the drug acts in these conditions remain not completely elucidated. A new case report and a review of all cases published so far in this setting are provided. Furthermore, the possibility of categorizing – from a clinical, pathological, and biological point of view – for at least some of these patients as a potential distinct entity is discussed.Keywords: myelodysplastic syndromes, myeloproliferative neoplasms, lenalidomide, del(5q), JAK2, World Health Organization

Published
2014

5. Geology and Absolute Model Ages of the Rima Bode Region -a Candidate Future Lunar Landing Site

Author

Hiesinger, H., Bogert, C. H. van Der, Mikolajewski, S., Wedler, A., Jaumann, R., Mall, U., Head, J.W., Anand, M., Jolliff, B., Pinet, Patrick, Xiao, L., Ivanov, M., Gundlach, B., Schmitz, N., Schweitzer, M., Mann-Mecucci, C. Berge, Jaime, A., Desanctis, M.C., Besse, S., Massironi, M., Hauber, E., Ri, A. Frige, Tartese, R., Rull, F., Mcdonald, F., Carpenter, J., Westfälische Wilhelms-Universität Münster = University of Münster (WWU), DLR Institute of Robotics and Mechatronics, Deutsches Zentrum für Luft- und Raumfahrt [Oberpfaffenhofen-Wessling] (DLR), Freie Universität Berlin, Max-Planck-Institut für Sonnensystemforschung = Max Planck Institute for Solar System Research (MPS), Max-Planck-Gesellschaft, Brown University, Open University, Washington University in Saint Louis (WUSTL), Institut de recherche en astrophysique et planétologie (IRAP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS), China University of Geosciences [Wuhan] (CUG), Vernadsky Institute of Geochemistry and Analytical Chemistry (GEOKHI), Russian Academy of Sciences [Moscow] (RAS), Technische Universität Braunschweig = Technical University of Braunschweig [Braunschweig], DLR Institut für Planetenforschung, Deutsches Zentrum für Luft- und Raumfahrt [Berlin] (DLR), Orbitale Hochtechnologie Bremen (OHB Systems AG), Istituto di Astrofisica e Planetologia Spaziali - INAF (IAPS), Istituto Nazionale di Astrofisica (INAF), Aurora Technology BV, Università degli Studi di Padova = University of Padua (Unipd), University of Manchester [Manchester], Universidad de Valladolid [Valladolid] (UVa), ESA - ESTEC (Netherlands), and NASA's Solar System Exploration Research Virtual Institute (SSERVI)

Subjects
lunar exploration, [SDU.STU.PL]Sciences of the Universe [physics]/Earth Sciences/Planetology, lunar ages, lunar geology, [SDU]Sciences of the Universe [physics], landing sites, [SDU.ASTR.EP]Sciences of the Universe [physics]/Astrophysics [astro-ph]/Earth and Planetary Astrophysics [astro-ph.EP]
Abstract

International audience; Introduction: ESA is currently exploring plans to utilize the European Large Lunar Lander (EL3) for science-driven missions that will allow us to bring about 1.5 tons of payload to the lunar surface. A first mission to a polar landing site is scheduled for 2029. This mission will not carry a rover but subsequent missions in the 2030’s will be more complex and comprehensive and will include a rover. Considering the large payload mass, we explore the scientific potential of a rover that will be able to travel 10s -100s of kilometers, have night survival capabilities, and carry a comprehensive suite of instruments (e.g., LIBS, Raman, IR-spectrometer, multispectral stereo cameras) to characterize and pre-select interesting samples. A novelty of our concept is that we propose to continuously operate certain instruments while roving. For example, a continuously operated ground-penetrating radar would yield information on the sub-surface regolith structure and an IR-spectrometer would produce mineralogical/compositional profiles along rover paths

Published
2022

6. P739: THE EPI-GENOMIC LANDSCAPE OF MONOSOMY 7 IN ADULT MDS/AML

Author

Lema Fernandez, A. G., primary, Nardelli, C., additional, Di Battista, V., additional, Quintini, M., additional, Pellanera, F., additional, Matteucci, C., additional, Pierini, V., additional, Crescenzi, B., additional, Moretti, M., additional, Bardelli, V., additional, Gorello, P., additional, and Mecucci, C., additional

Published
2022
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7. P307: DEL(17)(Q11) IS TYPICAL MARKER OF IMMATURE T-ALL OF ADULTS, WITH NF1, UTP6, AND SUZ12 HAPLOINSUFFICIENCY, GENOME INSTABILITY, AND GENE DOWNREGULATION

Author

Bardelli, V., primary, Pierini, V., additional, Arniani, S., additional, Mvridou, E., additional, Matteucci, C., additional, Lema Fernandez, A. G., additional, Moretti, M., additional, Elia, L., additional, Giglio, F., additional, Forghieri, F., additional, Cerrano, M., additional, Fracchiolla, N., additional, Delia, M., additional, Sica, S., additional, Mecucci, C., additional, and La Starza, R., additional

Published
2022
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8. P1000: INCREASED PLASMA LEVELS OF LNCRNAS ARE POTENTIAL PROGNOSTIC BIOMARKERS IN MYELOFIBROSIS

Author

Sartini, S., primary, Fantini, S., additional, Rontauroli, S., additional, Mirabile, M., additional, Bianchi, E., additional, Badii, F., additional, Maccaferri, M., additional, Guglielmelli, P., additional, Ottone, T., additional, Palmieri, R., additional, Genovese, E., additional, Carretta, C., additional, Parenti, S., additional, Mallia, S., additional, Tavernari, L., additional, Salvadori, C., additional, Gesullo, F., additional, Maccari, C., additional, Zizza, M., additional, Grande, A., additional, Salmoiraghi, S., additional, Mora, B., additional, Potenza, L., additional, Rosti, V., additional, Passamonti, F., additional, Rambaldi, A., additional, Voso, M. T., additional, Mecucci, C., additional, Tagliafico, E., additional, Luppi, M., additional, Vannucchi, A. M., additional, and Manfredini, R., additional

Published
2022
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9. P574: CPX-351 COMBINED WITH HEMATOPOIETIC CELL TRANSPLANTATION WITH REGULATORY AND CONVENTIONAL T CELL IMMUNOTHERAPY FOR HIGH-RISK ACUTE MYELOID LEUKEMIA

Author

Sciabolacci, S., primary, Ruggeri, L., additional, Cardinali, V., additional, Brunetti, L., additional, Tricarico, S., additional, Saldi, S., additional, Marzuttini, F., additional, Griselli, M., additional, Perta, G., additional, Viglione, V., additional, Cimino, G., additional, Osmani, A., additional, Caridi, M., additional, Sembenico, R., additional, Terenzi, A., additional, Zei, T., additional, Iacucci Ostini, R., additional, Martelli, M. F., additional, Falini, B., additional, Velardi, A., additional, Aristei, C., additional, Mecucci, C., additional, Carotti, A., additional, Martelli, M. P., additional, and Pierini, A., additional

Published
2022
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10. The Rima Bode Region -Absolute Model Ages of a Candidate Future Lunar Landing Site

Author

Hiesinger, H., Bogert, C. H.van Der, Wedler, A., Jaumann, R., Mall, U., Head, J.W., Anand, M., Jolliff, B., Pinet, P., Xiao, L., Ivanov, M., Gundlach, B., Schmitz, N., Schweitzer, M., Bergemann-Mecucci, C., Jaime, A., Desanctis, M.C., Besse, S., Massironi, M., Crawford, Ian, Hauber, E., Frigeri, A., Tartese, R., Rull, F., Mcdonald, F., Carpenter, J., Institut für Planetologie [Münster], Westfälische Wilhelms-Universität Münster = University of Münster (WWU), DLR Institute of Robotics and Mechatronics, Deutsches Zentrum für Luft- und Raumfahrt [Oberpfaffenhofen-Wessling] (DLR), Freie Universität Berlin, Max-Planck-Institut für Sonnensystemforschung = Max Planck Institute for Solar System Research (MPS), Max-Planck-Gesellschaft, Brown University, The Open University [Milton Keynes] (OU), Washington University in Saint Louis (WUSTL), Institut de recherche en astrophysique et planétologie (IRAP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Observatoire Midi-Pyrénées (OMP), Institut de Recherche pour le Développement (IRD)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Institut de Recherche pour le Développement (IRD)-Institut national des sciences de l'Univers (INSU - CNRS)-Centre National d'Études Spatiales [Toulouse] (CNES)-Centre National de la Recherche Scientifique (CNRS)-Météo-France -Centre National de la Recherche Scientifique (CNRS), China University of Geosciences [Wuhan] (CUG), Vernadsky Institute of Geochemistry and Analytical Chemistry (GEOKHI), Russian Academy of Sciences [Moscow] (RAS), Technische Universität Braunschweig = Technical University of Braunschweig [Braunschweig], DLR Institut für Planetenforschung, Deutsches Zentrum für Luft- und Raumfahrt [Berlin] (DLR), Orbitale Hochtechnologie Bremen (OHB Systems AG), Istituto di Astrofisica e Planetologia Spaziali - INAF (IAPS), Istituto Nazionale di Astrofisica (INAF), Aurora Technology BV, Università degli Studi di Padova = University of Padua (Unipd), University of London [London], University of Manchester [Manchester], Universidad de Valladolid [Valladolid] (UVa), European Space Research and Technology Centre (ESTEC), and Agence Spatiale Européenne = European Space Agency (ESA)

Subjects
[SDU.STU.PL]Sciences of the Universe [physics]/Earth Sciences/Planetology, [SDU]Sciences of the Universe [physics], [SDU.ASTR.EP]Sciences of the Universe [physics]/Astrophysics [astro-ph]/Earth and Planetary Astrophysics [astro-ph.EP]
Abstract

International audience

Published
2022

11. Identification of an Epi-metabolic dependency on EHMT2/G9a in T-cell acute lymphoblastic leukemia

Author

Montanaro, A, Kitara, S, Cerretani, E, Marchesini, M, Rompietti, C, Pagliaro, L, Gherli, A, Su, A, Minchillo, Ml, Caputi, M, Fioretzaki, R, Lorusso, B, Ross, L, Alexe, G, Masselli, E, Marozzi, M, Rizzi, Fma, La Starza, R, Mecucci, C, Xiong, Y, Jin, J, Falco, A, Knoechel, B, Aversa, F, Candini, O, Quaini, F, Sportoletti, P, Stegmaier, K, 2022 Jun 17, Roti G. Identification of an Epi-metabolic dependency on EHMT2/G9a in T-cell acute lymphoblastic leukemia. Cell Death Dis., PMID: 35710782, 13(6):551. doi: 10. 1038/s41419-022-05002-5., and Pmcid:, Pmc9203761.

Subjects
Cancer Research, Cellular and Molecular Neuroscience, Glycogen Synthase Kinase 3, Histocompatibility Antigens, T-Lymphocytes, Immunology, Humans, Nuclear Proteins, Cell Biology, Histone-Lysine N-Methyltransferase, DNA Methylation, Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Abstract

Genomic studies have identified recurrent somatic alterations in genes involved in DNA methylation and post-translational histone modifications in acute lymphoblastic leukemia (ALL), suggesting new opportunities for therapeutic interventions. In this study, we identified G9a/EHMT2 as a potential target in T-ALL through the intersection of epigenome-centered shRNA and chemical screens. We subsequently validated G9a with low-throughput CRISPR-Cas9-based studies targeting the catalytic G9a SET-domain and the testing of G9a chemical inhibitors in vitro, 3D, and in vivo T-ALL models. Mechanistically we determined that G9a repression promotes lysosomal biogenesis and autophagic degradation associated with the suppression of sestrin2 (SESN2) and inhibition of glycogen synthase kinase-3 (GSK-3), suggesting that in T-ALL glycolytic dependent pathways are at least in part under epigenetic control. Thus, targeting G9a represents a strategy to exhaust the metabolic requirement of T-ALL cells.

Published
2022

12. Mitochondrial defect in Warsaw syndrome cells genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: A comparison with Fanconi anemia

Author

Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., Savoia, A., Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., and Savoia, A.

Subjects
mitochondrial defects, genomic integrity, mitochondrial defect, oxidative stre, Fanconi anemia, oxidative stress, Warsaw syndrome, OXOPHOS
Abstract

Warsaw breakage syndrome (WABS), is caused by biallelic mutations of DDX11, a gene coding a DNA helicase. We have recently reported two affected sisters, compound heterozygous for a missense (p.Leu836Pro) and a frameshift (p.Lys303Glufs*22) variant. By investigating the pathogenic mechanism, we demonstrate the inability of the DDX11 p.Leu836Pro mutant to unwind forked DNA substrates, while retaining DNA binding activity. We observed the accumulation of patient-derived cells at the G2/M phase and increased chromosomal fragmentation after mitomycin C treatment. The phenotype partially overlaps with features of the Fanconi anemia cells, which shows not only genomic instability but also defective mitochondria. This prompted us to examine mitochondrial functionality in WABS cells and revealed an altered aerobic metabolism. This opens the door to the further elucidation of the molecular and cellular basis of an impaired mitochondrial phenotype and sheds light on this fundamental process in cell physiology and the pathogenesis of these diseases.

Published
2021

15. Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells expressing the Leu836Pro DDX11 mutation: a comparison with Fanconi anemia

Author

Bottega, R., Ravera, S., Napolitano, L. M. R., Chiappetta, V., Zini, N., Crescenzi, B., Arniani, S., Faleschini, M., Cortone, G., Faletra, F., Medagli, B., Sirchia, F., Moretti, M., de Lange, J., Cappelli, E., Mecucci, C., Onesti, S., Pisani, F. M., and Savoia, A.

Subjects
genomic integrity, mitochondrial defects, Fanconi anemia, oxidative stress, Warsaw syndrome, OXOPHOS
Published
2021

22. A novel germline variant in PIK3R1 results in SHORT syndrome associated with TAL/LMO T-cell Acute Lymphoblastic Leukemia

Author

Marzollo, A., Maestrini, G., La Starza, R., Elia, L., Malfona, F., Pierini, T., Tretti Parenzan, C., Coppe, A., Bortoluzzi, S., Biffi, A., Mecucci, C., Bresolin, S., and Testi, A. M.

Subjects
class Ia Phosphatidylinositol 3-Kinase, male, adolescent, growth disorders, nephrocalcinosis, precursor T-cell lymphoblastic leukemia-lymphoma, humans, hypercalcemia, metabolic diseases, germ-line mutation
Published
2020

33. The prognostic value of cytogenetics is reinforced by the kind of induction/consolidation therapy in influencing the outcome of acute myeloid leukemia – analysis of 848 patients

Author

Visani, G, Bernasconi, P, Boni, M, Castoldi, GL, Ciolli, S, Clavio, M, Cox, MC, Cuneo, A, Del Poeta, G, Dini, D, Falzetti, D, Fanin, R, Gobbi, M, Isidori, A, Leoni, F, Liso, V, Malagola, M, Martinelli, G, Mecucci, C, Piccaluga, PP, Petti, MC, Rondelli, R, Russo, D, Sessarego, M, Specchia, G, Testoni, N, Torelli, G, Mandelli, F, and Tura, S

Published
2001
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35. Structure of the (SR) Ca2+-ATPase bound to the inhibitor compound CAD204520 and TNP-ATP

Author

Heit, S., primary, Marchesini, M., additional, Gherli, A., additional, Montanaro, A., additional, Patrizi, L., additional, Sorrentino, C., additional, Pagliaro, L., additional, Rompietti, C., additional, Kitara, S., additional, Olesen, C.E., additional, Moller, J.V., additional, Savi, M., additional, Bocchi, L., additional, Vilella, R., additional, Rizzi, F., additional, Baglione, M., additional, Rastelli, G., additional, Loiacona, C., additional, La Starza, R., additional, Mecucci, C., additional, Stegmair, K., additional, Aversa, F., additional, Stilli, D., additional, Lund Winther, A.M., additional, Sportoletti, P., additional, Dalby-Brown, W., additional, Roti, G., additional, and Bublitz, M., additional

Published
2020
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36. Lenalidomide treatment of myelodysplastic syndromes with chromosome 5q deletion: Results from the National Registry of the Italian Drug Agency

Author

Arcioni, F., Roncadori, A., Di Battista, V., Tura, S., Covezzoli, A., Cundari, S., Mecucci, C., Abbadessa, A., Alterini, R., Santini, V., Cantonetti, M., Buccisano, F., Bacigalupo, A., Sessarego, M., Tonso, A., Ferrero, D., D'Ardia, S., Tarella, C., Cascavilla, N., Bassan, R., Sancetta, R., Cortelezzi, A., Reda, G., Maria D'Arco, A., De Fabritiis, P., Di Renzo, N., Falini, B., Alimena, G., Avanzini, P., Ilariucci, F., Iuliano, F., La Nasa, G., Caocci, G., Defina, M., Latte, G., Palmas, A., Levis, A., Leone, G., Teresa Voso, M., Leoni, P., Poloni, A., Fozza, C., Crugnola, M., Montanaro, M., Spedini, P., Lanza, F., Pizzuti, M., Pane, F., Paolini, R., Borin, L., Rambaldi, A., Rossi, G., Maria Pelizzari, A., Russo, D., D'Emilio, A., Ruggeri, M., Semenzato, G., Specchia, G., Tagariello, G., Sartori, R., Testore, F., Ciravegna, G., Marasca, R., Cimarosto, L., Fontanive, O., Visani, G., Arcioni, F., Roncadori, A., Di Battista, V., Tura, S., Covezzoli, A., Cundari, S., Mecucci, C., Abbadessa, A., Alterini, R., Santini, V., Cantonetti, M., Buccisano, F., Bacigalupo, A., Sessarego, M., Tonso, A., Ferrero, D., D'Ardia, S., Tarella, C., Cascavilla, N., Bassan, R., Sancetta, R., Cortelezzi, A., Reda, G., Maria D'Arco, A., De Fabritiis, P., Di Renzo, N., Falini, B., Alimena, G., Avanzini, P., Ilariucci, F., Iuliano, F., La Nasa, G., Caocci, G., Defina, M., Latte, G., Palmas, A., Levis, A., Leone, G., Teresa Voso, M., Leoni, P., Poloni, A., Fozza, C., Crugnola, M., Montanaro, M., Spedini, P., Lanza, F., Pizzuti, M., Pane, F., Paolini, R., Borin, L., Rambaldi, A., Rossi, G., Maria Pelizzari, A., Russo, D., D'Emilio, A., Ruggeri, M., Semenzato, G., Specchia, G., Tagariello, G., Sartori, R., Testore, F., Ciravegna, G., Marasca, R., Cimarosto, L., Fontanive, O., and Visani, G.

Subjects
Oncology, Myeloid, Male, Group B, Immunologic Factor, 0302 clinical medicine, Retrospective Studie, hemic and lymphatic diseases, del(5q), Prospective Studies, Registries, Prospective cohort study, Hematology, Leukemia, registry study, Standard treatment, Remission Induction, General Medicine, Middle Aged, lenalidomide, myelodysplastic syndromes, Aged, Chromosomes, Human, Pair 5, Disease Progression, Female, Humans, Immunologic Factors, Italy, Karyotyping, Lenalidomide, Leukemia, Myeloid, Acute, Myelodysplastic Syndromes, Retrospective Studies, Thalidomide, Chromosome Deletion, 030220 oncology & carcinogenesis, Pair 5, medicine.drug, Human, medicine.medical_specialty, Myelodysplastic Syndrome, Acute, Chromosomes, NO, 03 medical and health sciences, Internal medicine, medicine, business.industry, Myelodysplastic syndromes, Retrospective cohort study, medicine.disease, Settore MED/15, Prospective Studie, business, 030215 immunology
Abstract

Objective The most typical cytogenetic aberration in myelodysplastic syndromes is del(5q), which, when isolated, is associated with refractory anaemia and good prognosis. Based on high rates of erythroid response and transfusion independence, Lenalidomide (LEN) became the standard treatment. This multi-centre study was designed to supplement Italian Registry data on LEN by addressing prescription, administration appropriateness, haematological and cytogenetic responses and disease evolution. Methods MORE study was an observational, non-interventional, multi-centre, retrospective and prospective study. Cases were recruited from 45 Haematological Centres throughout Italy. Data were collected from the Italian National Registry for Lenalidomide administration and supplemented by a MORE data form. Results Data from 190/213 patients were analysed. In all, 149 had been diagnosed by conventional cytogenetics (GROUP A) and 41 only by FISH (GROUP B). Overall erythroid response was obtained in 92.8% of cases. Overall cytogenetic remission was achieved in 22.6% of cases. Disease progression occurred in 15.6% of cases. Clonal cytogenetic evolution characterised progression to AML but not to higher risk MDS. Conclusions Erythroid response to Lenalidomide was similar in MDS with isolated del(5q) and with del(5q) plus one anomaly. Progression to AML or higher risk MDS showed different cytogenetic features.

Published
2018

37. ETNK1 mutations promote ROS production and DNA damage through increased mitochondrial activity

Author

Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, CITTERIO, STEFANIA, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti-Passerini, C, Piazza, R, Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti-Passerini, C, and Piazza, R

Subjects
ETNK1, ROS
Abstract

Atypical chronic myeloid leukemia (aCML) is a clonal disorder belonging to the myelodysplastic/myeloproliferative syndromes. About 13% of aCML cases carry somatic mutations in ETNK1 gene, encoding for H243Y, N244S, and G245V substitutions. We previously showed that ETNK1 mutations cause a decreased catalytic activity of the enzyme. Despite this evidence however, their oncogenic role remained largely unexplained. Since ETNK1 activity is essential for the synthesis of phosphatidylethanolamine (PE) and given that PE is one of the most abundant phospholipids in the inner membrane of mitochondria, we focused our attention on mitochondrial activity. In order to characterize the oncogenic effect of ETNK1 variants we generated CRISPR/Cas9 clones carrying heterozygous N244S mutation and homozygous ETNK1 deletion (KO cells) on the 293 Flp-In™ cell-line. Both N244S and KO cells showed a significant increase in mitochondrial activity (1.78 and 2.13 fold increase, respectively; p= 0.0096 and p=0.0050) compared to WT, as assessed by MitoTracker™ Red. In line with this finding, electron microscopy revealed a significant modification in mitochondria morphology for N244S and KO cells, changing from an elongated, tubular shape to a round, swollen one. ATP (1.67 and 1.68 fold; p

Published
2018

38. ETNK1 mutations increase mitochondrial activity and promote DNA damage through ROS production

Author

Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Fanelli, F, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti Passerini, C, Piazza, R, Fontana, D, Mauri, M, Niro, A, Massimino, L, Bertagna, M, Zambrotta, G, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Fanelli, F, Mecucci, C, Cavaletti, G, Rea, D, Gambacorti Passerini, C, and Piazza, R

Subjects
atypical chronic myeloid leukemia, mitochondrial activity
Published
2018

41. Surfaceome interrogation using an RNA-seq approach highlights leukemia initiating cell biomarkers in an LMO2 T cell transgenic model

Author

Pais, H, Ruggero, K, Zhang, J, Al-Assar, O, Bery, N, Bhuller, R, Weston, V, Kearns, P, Mecucci, C, Miller, A, and Rabbitts, T

Subjects
lcsh:Medicine, CD59 Antigens, Tetraspanin 25, Article, Receptors, G-Protein-Coupled, Mice, Proto-Oncogene Proteins, Biomarkers, Tumor, Animals, Humans, RNA-Seq, lcsh:Science, Cells, Cultured, Adaptor Proteins, Signal Transducing, Leukemia, Cell Membrane, lcsh:R, Biochemical markers, Interleukin-2 Receptor alpha Subunit, Leucèmia, LIM Domain Proteins, Leukemia, Lymphoid, HEK293 Cells, Marcadors bioquímics, Neoplastic Stem Cells, lcsh:Q, Transcriptome
Abstract

The surfaceome is critical because surface proteins provide a gateway for internal signals and transfer of molecules into cells, and surfaceome differences can influence therapy response. We have used a surfaceome analysis method, based on comparing RNA-seq data between normal and abnormal cells (Surfaceome DataBase Mining or Surfaceome DBM), to identify sets of upregulated cell surface protein mRNAs in an LMO2-mediated T-ALL mouse model and corroborated by protein detection using antibodies. In this model the leukemia initiating cells (LICs) comprise pre-leukaemic, differentiation inhibited thymocytes allowing us to provide a profile of the LIC surfaceome in which GPR56, CD53 and CD59a are co-expressed with CD25. Implementation of cell surface interaction assays demonstrates fluid interaction of surface proteins and CD25 is only internalized when co-localized with other proteins. The Surfaceome DBM approach to analyse cancer cell surfaceomes is a way to find targetable surface biomarkers for clinical conditions where RNA-seq data from normal and abnormal cell are available.

Published
2019

44. Role of somatic ETNK1 mutation in the mitochondrial activity

Author

Fontana, D, Bertagna, M, Mauri, M, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Gambacorti Passerini, C, Piazza, RG, Fontana, D, Bertagna, M, Mauri, M, Bossi, M, Citterio, S, Crescenzi, B, Signore, G, Piazza, V, Mecucci, C, Cavaletti, G, Gambacorti Passerini, C, and Piazza, R

Subjects
atypical chronic myeloid leukemia, mitochondrial activity
Published
2017

46. PF158 TARGETING ONCOGENIC NOTCH1 IN T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA WITH A NEW SELECTIVE SERCA INHIBITOR CAD204520

Author

Marchesini, M., primary, Gherli, A., additional, Winter, A.-M. Lund, additional, Patrizi, L., additional, Kitara, S., additional, Montanaro, A., additional, Rompietti, C., additional, Sorrentino, C., additional, Stilli, D., additional, Rizzi, F., additional, Loiacono, C., additional, Pagliaro, L., additional, Starza, R. La, additional, Mecucci, C., additional, Aversa, F., additional, Sportoletti, P., additional, Dalby-Brown, W., additional, and Roti, G., additional

Published
2019
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47. PB1882 DECONSTRUCTING RICHTER SYNDROME TUMOR NICHE: JAGGED-1 LIGAND LEADS THE WAY

Author

Marra, A., primary, Laurenti, M.E., additional, Baldoni, S., additional, Sorcini, D., additional, Pasquino, S., additional, Giansanti, M., additional, Bigerna, B., additional, Rompietti, C., additional, De Falco, F., additional, Del Papa, B., additional, Martino, G., additional, Ascani, S., additional, Mecucci, C., additional, Rosati, E., additional, and Sportoletti, P., additional

Published
2019
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49. A novel germline mutation in CDK4 codon 24 associated to familial melanoma

Author

Bottillo, I, La Starza, R, Radio, F C, Molica, Carmen, Pedace, L, Pierini, T, De Bernardo, C, Stingeni, L, Bargiacchi, S, Paiardini, A, Janson, G, Mecucci, C, and Grammatico, P

Subjects
Male, CDK4, Protein Conformation, Arg24Leu, T%22">c.71G>T, melanoma, Cyclin-Dependent Kinase 4, Middle Aged, Humans, Female, Codon, Germ-Line Mutation, Aged
Published
2017

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