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6 results on '"Wlodarski, M."'

1. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency

Author

Kozyra, E., Pastor, V., Lefkopoulos, S., Sahoo, S., Busch, H., Voss, R., Erlacher, M., Lebrecht, D., Szvetnik, E., Hirabayashi, S., Pasaulienė, R., Pedace, L., Tartaglia, M., Klemann, C., Metzger, P., Boerries, M., Catala, A., Hasle, H., de Haas, V., Kállay, K., Masetti, R., Moerloose, B., Dworzak, M., Schmugge, M., Smith, O., Starý, J., Mejstrikova, E., Ussowicz, M., Morris, E., Singh, P., Collin, M., Dereka, M., Göhring, G., Flotho, C., Strahm, B., Locatelli, F., Niemeyer, C., Trompouki, E., Wlodarski, M., and EWOG-MDS, W.

Abstract

Deficiency of the transcription factor GATA2 is a highly penetrant genetic disorder predisposing to myelodysplastic syndromes (MDS) and immunodeficiency. It has been recognized as the most common cause underlying primary MDS in children. Triggered by the discovery of a recurrent synonymous GATA2 variant, we systematically investigated 911 patients with phenotype of pediatric MDS or cellular deficiencies for the presence of synonymous alterations in GATA2. In total, we identified nine individuals with five heterozygous synonymous mutations: c.351C>G, p.T117T (N = 4); c.649C>T, p.L217L; c.981G>A, p.G327G; c.1023C>T, p.A341A; and c.1416G>A, p.P472P (N = 2). They accounted for 8.2% (9/110) of cases with GATA2 deficiency in our cohort and resulted in selective loss of mutant RNA. While for the hotspot mutation (c.351C>G) a splicing error leading to RNA and protein reduction was identified, severe, likely late stage RNA loss without splicing disruption was found for other mutations. Finally, the synonymous mutations did not alter protein function or stability. In summary, synonymous GATA2 substitutions are a new common cause of GATA2 deficiency. These findings have broad implications for genetic counseling and pathogenic variant discovery in Mendelian disorders.

Published
2020

2. GFI1(36N) as a therapeutic and prognostic marker for myelodysplastic syndrome

Author

Botezatu, L, Michel, LC, Makishima, H, Schroeder, T, Germing, U, Haas, R, van der Reijden, B, Marneth, AE, Bergevoet, SM, Jansen, JH, Przychodzen, B, Wlodarski, M, Niemeyer, C, Platzbecker, U, Ehninger, G, Unnikrishnan, A, Beck, D, Pimanda, J, Hellström-Lindberg, E, Cazzola, M, Malcovati, L, Boultwood, J, Pellagatti, A, Papaemmanuil, E, Le Coutre, P, Kaeda, J, Opalka, B, Möröy, T, Dührsen, U, Maciejewski, J, and Khandanpour, C

Subjects
Male, 0301 basic medicine, Oncology, Cancer Research, Myeloid, Pancytopenia, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Medizin, Bioinformatics, Cohort Studies, 0302 clinical medicine, Gene Frequency, Bone Marrow, Genotype, 10. No inequality, Univariate analysis, Hematopoietic stem cell, Hematology, Middle Aged, Prognosis, 3. Good health, DNA-Binding Proteins, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Cytogenetic Analysis, Female, Adult, medicine.medical_specialty, Malignant Hematopoiesis, Polymorphism, Single Nucleotide, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Allele, Molecular Biology, Allele frequency, Alleles, Survival analysis, Aged, business.industry, Myelodysplastic syndromes, Cell Biology, medicine.disease, Survival Analysis, 030104 developmental biology, Amino Acid Substitution, Myelodysplastic Syndromes, business, Biomarkers, Transcription Factors
Abstract

Inherited gene variants play an important role in malignant diseases. The transcriptional repressor growth factor independence 1 (GFI1) regulates hematopoietic stem cell (HSC) self-renewal and differentiation. A single-nucleotide polymorphism of GFI1 (rs34631763) generates a protein with an asparagine (N) instead of a serine (S) at position 36 (GFI136N) and has a prevalence of 3%–5% among Caucasians. Because GFI1 regulates myeloid development, we examined the role of GFI136N on the course of MDS disease. To this end, we determined allele frequencies of GFI136N in four independent MDS cohorts from the Netherlands and Belgium, Germany, the ICGC consortium, and the United States. The GFI136N allele frequency in the 723 MDS patients genotyped ranged between 9% and 12%. GFI136N was an independent adverse prognostic factor for overall survival, acute myeloid leukemia-free survival, and event-free survival in a univariate analysis. After adjustment for age, bone marrow blast percentage, IPSS score, mutational status, and cytogenetic findings, GFI136N remained an independent adverse prognostic marker. GFI136S homozygous patients exhibited a sustained response to treatment with hypomethylating agents, whereas GFI136N patients had a poor sustained response to this therapy. Because allele status of GFI136N is readily determined using basic molecular techniques, we propose inclusion of GFI136N status in future prospective studies for MDS patients to better predict prognosis and guide therapeutic decisions., Graphical abstract, Highlights • GFI136N is present in about 9%–12% of all Caucasian patients with myelodysplastic syndrome. • GFI136N is an independent, adverse prognostic factor for survival. • GFI136N patients with myelodysplastic syndrome respond poorly to hypomethylating agents.

Published
2016

6. Global effort to evacuate Ukrainian children with cancer and blood disorders who have been affected by war

Author

Asya Agulnik, Roman Kizyma, Marta Salek, Marcin W Wlodarski, Mikhail Pogorelyy, Aleksandra Oszer, Taisiya Yakimkova, Yuliya Nogovitsyna, Malgorzata Dutkiewicz, Jean-Hugues Dalle, Uta Dirksen, Angelika Eggert, Ana Fernández-Teijeiro, Jeanette Greiner, Kathelijne Kraal, Alexandra Mueller, Lucie Sramkova, Marco Zecca, Paul H Wise, Wojciech Mlynarski, Meghana Avula, Mykhaylo V Adyrov, Pablo Berlanga, Christopher Andrew Blackwood, Eric Bouffet, Piotr Stefan Czauderna, Linda A de Koning, Nuno Jorge dos Reis Farinha, Whitney Baer Foster, Dylan Elizabeth Graetz, Sumit Gupta, Wolfgang Holter, Rachael Emma Hough, Khrystyna Kliuchkivska, Alexandra Kolenova, Julia Kołodrubiec, Daniel C Moreira, Sheena Teresa Mukkada, Iryna Mykychak, Anna Raciborska, Zeena S Salman, Andriy Sopilnyak, Sergiy Tyupa, Anna Vinitsky, Natalia Margarete Wobst, Beth Anne Miller, Suheir Subhi Rasul, Carlos Rodriguez-Galindo, Inna Alanbousi, Sarah Weeks Alexander, Anna Apel, Wioletta Anna Bal, Walentyna Aniela Balwierz, Luisa Basset-Salom, Daniel Bastardo Blanco, Karolina Jadwiga Bauer, Ildar T Bayazitov, Nickhill Hitesh Bhakta, Ewa Iwona Bien, Katarzyna Anna Bieniek, Sally Jane Blair, Khrystyna Ihorivna Bodak, Irina Michael Bordeianu, Joao Maria Braganca, Mihaela Silvia Bucurenci, Elżbieta Beata Budny, Andrii Budzyn, Christopher Carl Bumgardner, Raina Nichole Burditt, Victoria Grace Burnside Clapp, Viacheslav Bykov, Adela Cañete, Monica Carnelli, Elena Cela, Zuzanna Paulina Cepowska, Radoslaw Chaber, Anna Cherner-Drieux, Mariya Chubata, Heidi M Clough, Jolanta Czernicka - Siwecka, Krzysztof Czyzewski, Olha Dashchakovska, Bozenna Malgorzata Dembowska-Baginska, Katarzyna Derwich, Rachel Dommett, Olha Dorosh, Katarzyna Anna Drabko, Monica Desiree Dragomir, Michael Dworzak, Sergii Dyma, Julian Darocus Earl, Martin William English, Dmitry A Evseev, Becky S Farren, Nataliia Fedyk, Severyn Ferneza, Leeanna Elizabeth Fox Irwin, Robert Maciej Gałązkowski, Galyna Ganieva, Vasylyna Garanzha, Marina S Gelman, Jan Krzysztof Godzinski, Anne Francoise Goeres, Rodica Golban, Michael J Griksaitis, Michal Andrzej Hampel, Sara Grace Hastings, Delphine Liliane Heenen, Marcela C Hill, Igor Holiuk, Lukasz Marek Hutnik, Ninela Irga-Jaworska, Oleksandr Istomin, Szymon Lech Janczar, Arman Kacharian, Krzysztof Kalwak, Grażyna Malgorzata Karolczyk, Nataliia Mikolaivna Karpenko, Halyna Katsubo, Bernarda Jadwiga Kaznowska, Alex Kentsis, Petra Ketteler, Anita Kienesberger, Roman Kiselev, Zoryana Kizyma, Hryhorii Klymniuk, Yuliia Kostiuk, Tomasz Kowalik, Olena Kozlova, Vladyslav Kozubenko, Tetyana Kramar, Maryna Krawczuk-Rybak, Irina Kulemzina, Paulina Kurkowska, Andriy S Kuzyk, Ruth Lydia Ladenstein, Pawel Jozef Laguna, Alvaro Lassaletta, Kai Lehmberg, Oksana Leontieva, Serhii Liashenko, Loizos G Loizou, Sonia Anna Lucchetta, Matthew William Lupo, Lesya Lysytsia, Oleksandr Lysytsia, Katarzyna Anna Machnik, Jeff A Mainland, Katarzyna Ewa Matczak, Michal Jacek Matysiak, Pierre Mayeur, Anastasia A Minervina, Volha Mishkova, Agnieszka Joanna Mizia-Malarz, Andres Morales La Madrid, Lucas Moreno, Vadim P Moskvin, Katarzyna Maria Muszyńska-Rosłan, Akoya Janae Nelson, Tomasz Ociepa, Stefano Oltolini, Nataliia Onipko, Andrew Pappas, Amit B Patel, Alina Patrahau, Jennifer L Pauley, Yehor Pavlenko, Andrij Pavlovych, Jarosław Peregud-Pogorzelski, Marta Perek-Polnik, Vanesa Perez, Antonio Perez-Martinez, Yana Pikman, Graziano Pitozzi, Rui Gentil Portugal, Victoria Vita Posternak, Arcangelo Prete, Kathy Pritchard-Jones, Alessandra Radaelli, Tegan Reeves, Dirk Reinhardt, Andrey V Reshetnyak, Andrew Jacob Rider, Carmelo Rizzari, Damiano Rizzi, Karen Gabriela Rodriguez Hermosillo, Olena Ronenko, Aneta Olga Rostowska, Liudmyla Rudko, Firas Mohamed Sakaan, Nadezhda Sakhar, Natallia N Savva, Davide Scaccaglia, Elizabeth Hawthorne Schaeffer, Carina Ursula Schneider, Nicole Scobie, Olena Semeniuk, Roksoliana Shevchyk, Ana I Shuler, Stanislav Shvets, Szymon Pawel Skoczen, William John Smeal, Igor Sokolowski, Anna A Sonkin, Alla Ivanivna Stepanjuk, Andrea Spota, Jaroslav Sterba, Jan Styczynski, Olha Svintsova, Andriy V Synyuta, Tomasz Szczepanski, Paweł Kukiz Szczucinski, Bartosz Miroslaw Szmyd, Maria Tasso Cereceda, Alina Teliuk, Iwona Tomanek, Phoebe Topping, Montserrat Torrent, Joanna Trelińska, Olha Troyanovska, Elena Trubnikova, Lyudmila G Tsurkan, Iryna Tsymbalyuk-Voloshyn, Tomasz Franciszek Urasinski, Agnieszka Urbanek-Dadela, Nataliia Vasilieva, Aksana Vasilyeva, Jaime Verdú-Amorós, Natalia Vilcu-Bajurean, Leo Vinitsky, Giovanni Volpe, Oksana Vorobel, Jacek Tadeusz Wachowiak, Marcin Slawomir Wasiak, Lance Allan Wiedower, Lena Isolde Wuenschel, Mariusz Stanislaw Wysocki, Marina Yurieva, Anastasiia Zagurska, Stanislav S Zakharenko, Aelita V Zakharenko, Khrystyna Zapotochna, Joanna Emilia Zawitkowska, Agulnik, A, Kizyma, R, Salek, M, Wlodarski, M, Pogorelyy, M, Oszer, A, Yakimkova, T, Nogovitsyna, Y, Dutkiewicz, M, Dalle, J, Dirksen, U, Eggert, A, Fernandez-Teijeiro, A, Greiner, J, Kraal, K, Mueller, A, Sramkova, L, Zecca, M, Wise, P, Mlynarski, W, Avula, M, Adyrov, M, Berlanga, P, Blackwood, C, Bouffet, E, Czauderna, P, de Koning, L, dos Reis Farinha, N, Foster, W, Graetz, D, Gupta, S, Holter, W, Hough, R, Kliuchkivska, K, Kolenova, A, Kolodrubiec, J, Moreira, D, Mukkada, S, Mykychak, I, Raciborska, A, Salman, Z, Sopilnyak, A, Tyupa, S, Vinitsky, A, Wobst, N, Miller, B, Rasul, S, Rodriguez-Galindo, C, Alanbousi, I, Alexander, S, Apel, A, Bal, W, Balwierz, W, Basset-Salom, L, Bastardo Blanco, D, Bauer, K, Bayazitov, I, Bhakta, N, Bien, E, Bieniek, K, Blair, S, Bodak, K, Bordeianu, I, Braganca, J, Bucurenci, M, Budny, E, Budzyn, A, Bumgardner, C, Burditt, R, Burnside Clapp, V, Bykov, V, Canete, A, Carnelli, M, Cela, E, Cepowska, Z, Chaber, R, Cherner-Drieux, A, Chubata, M, Clough, H, Czernicka - Siwecka, J, Czyzewski, K, Dashchakovska, O, Dembowska-Baginska, B, Derwich, K, Dommett, R, Dorosh, O, Drabko, K, Dragomir, M, Dworzak, M, Dyma, S, Earl, J, English, M, Evseev, D, Farren, B, Fedyk, N, Ferneza, S, Fox Irwin, L, Galazkowski, R, Ganieva, G, Garanzha, V, Gelman, M, Godzinski, J, Goeres, A, Golban, R, Griksaitis, M, Hampel, M, Hastings, S, Heenen, D, Hill, M, Holiuk, I, Hutnik, L, Irga-Jaworska, N, Istomin, O, Janczar, S, Kacharian, A, Kalwak, K, Karolczyk, G, Karpenko, N, Katsubo, H, Kaznowska, B, Kentsis, A, Ketteler, P, Kienesberger, A, Kiselev, R, Kizyma, Z, Klymniuk, H, Kostiuk, Y, Kowalik, T, Kozlova, O, Kozubenko, V, Kramar, T, Krawczuk-Rybak, M, Kulemzina, I, Kurkowska, P, Kuzyk, A, Ladenstein, R, Laguna, P, Lassaletta, A, Lehmberg, K, Leontieva, O, Liashenko, S, Loizou, L, Lucchetta, S, Lupo, M, Lysytsia, L, Lysytsia, O, Machnik, K, Mainland, J, Matczak, K, Matysiak, M, Mayeur, P, Minervina, A, Mishkova, V, Mizia-Malarz, A, Morales La Madrid, A, Moreno, L, Moskvin, V, Muszynska-Roslan, K, Nelson, A, Ociepa, T, Oltolini, S, Onipko, N, Pappas, A, Patel, A, Patrahau, A, Pauley, J, Pavlenko, Y, Pavlovych, A, Peregud-Pogorzelski, J, Perek-Polnik, M, Perez, V, Perez-Martinez, A, Pikman, Y, Pitozzi, G, Portugal, R, Posternak, V, Prete, A, Pritchard-Jones, K, Radaelli, A, Reeves, T, Reinhardt, D, Reshetnyak, A, Rider, A, Rizzari, C, Rizzi, D, Rodriguez Hermosillo, K, Ronenko, O, Rostowska, A, Rudko, L, Sakaan, F, Sakhar, N, Savva, N, Scaccaglia, D, Schaeffer, E, Schneider, C, Scobie, N, Semeniuk, O, Shevchyk, R, Shuler, A, Shvets, S, Skoczen, S, Smeal, W, Sokolowski, I, Sonkin, A, Stepanjuk, A, Spota, A, Sterba, J, Styczynski, J, Svintsova, O, Synyuta, A, Szczepanski, T, Szczucinski, P, Szmyd, B, Tasso Cereceda, M, Teliuk, A, Tomanek, I, Topping, P, Torrent, M, Trelinska, J, Troyanovska, O, Trubnikova, E, Tsurkan, L, Tsymbalyuk-Voloshyn, I, Urasinski, T, Urbanek-Dadela, A, Vasilieva, N, Vasilyeva, A, Verdu-Amoros, J, Vilcu-Bajurean, N, Vinitsky, L, Volpe, G, Vorobel, O, Wachowiak, J, Wasiak, M, Wiedower, L, Wuenschel, L, Wysocki, M, Yurieva, M, Zagurska, A, Zakharenko, S, Zakharenko, A, Zapotochna, K, and Zawitkowska, J

Subjects
Neoplasms, Medizin, Ethnicity, cancer, Humans, war, MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Hematology, Child, Hematologic Diseases, blood disorder
Published
2022

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