Search

Your search keyword '"Wlodarski, M."' showing total 169 results
Start Over Author "Wlodarski, M."
169 results on '"Wlodarski, M."'

1. Anämien

Author

Kunz, J., Kulozik, A., Niemeyer, C., Wlodarski, M., Niemeyer, Charlotte, editor, and Eggert, Angelika, editor

Published
2018
Full Text
View/download PDF

3. Topic: AS04-MDS Biology and Pathogenesis/AS04d-Somatic mutations: THE EVOLVING GENETIC LANDSCAPE OF PEDIATRIC MDS-EB

Author

Erlacher, M., primary, Yoshimi, A., additional, Stasik, S., additional, Ramamoorthy, S., additional, Lebrecht, D., additional, Noellke, P., additional, Goehring, G., additional, De Haas, V., additional, Starý, J., additional, Masetti, R., additional, Ussowicz, M., additional, Barzilai-Birenboim, S., additional, De Moerloose, B., additional, Kállay, K., additional, Buechner, J., additional, Dworzak, M., additional, Catala, A., additional, Hasle, H., additional, Schmugge, M., additional, Polychronopoulou, S., additional, Boďová, I., additional, Jahnukainen, K., additional, Smith, O., additional, Kavcic, M., additional, Turkiewicz, D., additional, Kjollerstrom, P., additional, Locatelli, F., additional, Wlodarski, M., additional, Thiede, C., additional, Strahm, B., additional, and Niemeyer, C., additional

Published
2023
Full Text
View/download PDF

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

Author

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, Zawitkowska, J, Agulnik A., Kizyma R., Salek M., Wlodarski M. W., Pogorelyy M., Oszer A., Yakimkova T., Nogovitsyna Y., Dutkiewicz M., Dalle J. -H., Dirksen U., Eggert A., Fernandez-Teijeiro A., Greiner J., Kraal K., Mueller A., Sramkova L., Zecca M., Wise P. H., Mlynarski W., Avula M., Adyrov M. V., Berlanga P., Blackwood C. A., Bouffet E., Czauderna P. S., de Koning L. A., dos Reis Farinha N. J., Foster W. B., Graetz D. E., Gupta S., Holter W., Hough R. E., Kliuchkivska K., Kolenova A., Kolodrubiec J., Moreira D. C., Mukkada S. T., Mykychak I., Raciborska A., Salman Z. S., Sopilnyak A., Tyupa S., Vinitsky A., Wobst N. M., Miller B. A., Rasul S. S., Rodriguez-Galindo C., Alanbousi I., Alexander S. W., Apel A., Bal W. A., Balwierz W. A., Basset-Salom L., Bastardo Blanco D., Bauer K. J., Bayazitov I. T., Bhakta N. H., Bien E. I., Bieniek K. A., Blair S. J., Bodak K. I., Bordeianu I. M., Braganca J. M., Bucurenci M. S., Budny E. B., Budzyn A., Bumgardner C. C., Burditt R. N., Burnside Clapp V. G., Bykov V., Canete A., Carnelli M., Cela E., Cepowska Z. P., Chaber R., Cherner-Drieux A., Chubata M., Clough H. M., Czernicka - Siwecka J., Czyzewski K., Dashchakovska O., Dembowska-Baginska B. M., Derwich K., Dommett R., Dorosh O., Drabko K. A., Dragomir M. D., Dworzak M., Dyma S., Earl J. D., English M. W., Evseev D. A., Farren B. S., Fedyk N., Ferneza S., Fox Irwin L. E., Galazkowski R. M., Ganieva G., Garanzha V., Gelman M. S., Godzinski J. K., Goeres A. F., Golban R., Griksaitis M. J., Hampel M. A., Hastings S. G., Heenen D. L., Hill M. C., Holiuk I., Hutnik L. M., Irga-Jaworska N., Istomin O., Janczar S. L., Kacharian A., Kalwak K., Karolczyk G. M., Karpenko N. M., Katsubo H., Kaznowska B. J., 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. S., Ladenstein R. L., Laguna P. J., Lassaletta A., Lehmberg K., Leontieva O., Liashenko S., Loizou L. G., Lucchetta S. A., Lupo M. W., Lysytsia L., Lysytsia O., Machnik K. A., Mainland J. A., Matczak K. E., Matysiak M. J., Mayeur P., Minervina A. A., Mishkova V., Mizia-Malarz A. J., Morales La Madrid A., Moreno L., Moskvin V. P., Muszynska-Roslan K. M., Nelson A. J., Ociepa T., Oltolini S., Onipko N., Pappas A., Patel A. B., Patrahau A., Pauley J. L., Pavlenko Y., Pavlovych A., Peregud-Pogorzelski J., Perek-Polnik M., Perez V., Perez-Martinez A., Pikman Y., Pitozzi G., Portugal R. G., Posternak V. V., Prete A., Pritchard-Jones K., Radaelli A., Reeves T., Reinhardt D., Reshetnyak A. V., Rider A. J., Rizzari C., Rizzi D., Rodriguez Hermosillo K. G., Ronenko O., Rostowska A. O., Rudko L., Sakaan F. M., Sakhar N., Savva N. N., Scaccaglia D., Schaeffer E. H., Schneider C. U., Scobie N., Semeniuk O., Shevchyk R., Shuler A. I., Shvets S., Skoczen S. P., Smeal W. J., Sokolowski I., Sonkin A. A., Stepanjuk A. I., Spota A., Sterba J., Styczynski J., Svintsova O., Synyuta A. V., Szczepanski T., Szczucinski P. K., Szmyd B. M., Tasso Cereceda M., Teliuk A., Tomanek I., Topping P., Torrent M., Trelinska J., Troyanovska O., Trubnikova E., Tsurkan L. G., Tsymbalyuk-Voloshyn I., Urasinski T. F., Urbanek-Dadela A., Vasilieva N., Vasilyeva A., Verdu-Amoros J., Vilcu-Bajurean N., Vinitsky L., Volpe G., Vorobel O., Wachowiak J. T., Wasiak M. S., Wiedower L. A., Wuenschel L. I., Wysocki M. S., Yurieva M., Zagurska A., Zakharenko S. S., Zakharenko A. V., Zapotochna K., Zawitkowska J. E., 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, Zawitkowska, J, Agulnik A., Kizyma R., Salek M., Wlodarski M. W., Pogorelyy M., Oszer A., Yakimkova T., Nogovitsyna Y., Dutkiewicz M., Dalle J. -H., Dirksen U., Eggert A., Fernandez-Teijeiro A., Greiner J., Kraal K., Mueller A., Sramkova L., Zecca M., Wise P. H., Mlynarski W., Avula M., Adyrov M. V., Berlanga P., Blackwood C. A., Bouffet E., Czauderna P. S., de Koning L. A., dos Reis Farinha N. J., Foster W. B., Graetz D. E., Gupta S., Holter W., Hough R. E., Kliuchkivska K., Kolenova A., Kolodrubiec J., Moreira D. C., Mukkada S. T., Mykychak I., Raciborska A., Salman Z. S., Sopilnyak A., Tyupa S., Vinitsky A., Wobst N. M., Miller B. A., Rasul S. S., Rodriguez-Galindo C., Alanbousi I., Alexander S. W., Apel A., Bal W. A., Balwierz W. A., Basset-Salom L., Bastardo Blanco D., Bauer K. J., Bayazitov I. T., Bhakta N. H., Bien E. I., Bieniek K. A., Blair S. J., Bodak K. I., Bordeianu I. M., Braganca J. M., Bucurenci M. S., Budny E. B., Budzyn A., Bumgardner C. C., Burditt R. N., Burnside Clapp V. G., Bykov V., Canete A., Carnelli M., Cela E., Cepowska Z. P., Chaber R., Cherner-Drieux A., Chubata M., Clough H. M., Czernicka - Siwecka J., Czyzewski K., Dashchakovska O., Dembowska-Baginska B. M., Derwich K., Dommett R., Dorosh O., Drabko K. A., Dragomir M. D., Dworzak M., Dyma S., Earl J. D., English M. W., Evseev D. A., Farren B. S., Fedyk N., Ferneza S., Fox Irwin L. E., Galazkowski R. M., Ganieva G., Garanzha V., Gelman M. S., Godzinski J. K., Goeres A. F., Golban R., Griksaitis M. J., Hampel M. A., Hastings S. G., Heenen D. L., Hill M. C., Holiuk I., Hutnik L. M., Irga-Jaworska N., Istomin O., Janczar S. L., Kacharian A., Kalwak K., Karolczyk G. M., Karpenko N. M., Katsubo H., Kaznowska B. J., 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. S., Ladenstein R. L., Laguna P. J., Lassaletta A., Lehmberg K., Leontieva O., Liashenko S., Loizou L. G., Lucchetta S. A., Lupo M. W., Lysytsia L., Lysytsia O., Machnik K. A., Mainland J. A., Matczak K. E., Matysiak M. J., Mayeur P., Minervina A. A., Mishkova V., Mizia-Malarz A. J., Morales La Madrid A., Moreno L., Moskvin V. P., Muszynska-Roslan K. M., Nelson A. J., Ociepa T., Oltolini S., Onipko N., Pappas A., Patel A. B., Patrahau A., Pauley J. L., Pavlenko Y., Pavlovych A., Peregud-Pogorzelski J., Perek-Polnik M., Perez V., Perez-Martinez A., Pikman Y., Pitozzi G., Portugal R. G., Posternak V. V., Prete A., Pritchard-Jones K., Radaelli A., Reeves T., Reinhardt D., Reshetnyak A. V., Rider A. J., Rizzari C., Rizzi D., Rodriguez Hermosillo K. G., Ronenko O., Rostowska A. O., Rudko L., Sakaan F. M., Sakhar N., Savva N. N., Scaccaglia D., Schaeffer E. H., Schneider C. U., Scobie N., Semeniuk O., Shevchyk R., Shuler A. I., Shvets S., Skoczen S. P., Smeal W. J., Sokolowski I., Sonkin A. A., Stepanjuk A. I., Spota A., Sterba J., Styczynski J., Svintsova O., Synyuta A. V., Szczepanski T., Szczucinski P. K., Szmyd B. M., Tasso Cereceda M., Teliuk A., Tomanek I., Topping P., Torrent M., Trelinska J., Troyanovska O., Trubnikova E., Tsurkan L. G., Tsymbalyuk-Voloshyn I., Urasinski T. F., Urbanek-Dadela A., Vasilieva N., Vasilyeva A., Verdu-Amoros J., Vilcu-Bajurean N., Vinitsky L., Volpe G., Vorobel O., Wachowiak J. T., Wasiak M. S., Wiedower L. A., Wuenschel L. I., Wysocki M. S., Yurieva M., Zagurska A., Zakharenko S. S., Zakharenko A. V., Zapotochna K., and Zawitkowska J. E.

Published
2022

5. European standard clinical practice - Key issues for the medical care of individuals with familial leukemia

Author

Förster, A, Davenport, C, Duployez, N, Erlacher, M, Ferster, A, Fitzgibbon, J, Göhring, G, Hasle, H, Jongmans, M, Kolenova, A, Kronnie, G, Lammens, T, Mecucci, C, Mlynarski, W, Niemeyer, C, Sole, F, Szczepanski, T, Waanders, E, Biondi, A, Wlodarski, M, Schlegelberger, B, Ripperger, T, Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C, Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M, Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, Ripperger, Tim, Förster, A, Davenport, C, Duployez, N, Erlacher, M, Ferster, A, Fitzgibbon, J, Göhring, G, Hasle, H, Jongmans, M, Kolenova, A, Kronnie, G, Lammens, T, Mecucci, C, Mlynarski, W, Niemeyer, C, Sole, F, Szczepanski, T, Waanders, E, Biondi, A, Wlodarski, M, Schlegelberger, B, Ripperger, T, Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C, Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M, Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, and Ripperger, Tim

Abstract

Although hematologic malignancies (HM) are no longer considered exclusively sporadic, additional awareness of familial cases has yet to be created. Individuals carrying a (likely) pathogenic germline variant (e.g., in ETV6, GATA2, SAMD9, SAMD9L, or RUNX1) are at an increased risk for developing HM. Given the clinical and psychological impact associated with the diagnosis of a genetic predisposition to HM, it is of utmost importance to provide high-quality, standardized patient care. To address these issues and harmonize care across Europe, the Familial Leukemia Subnetwork within the ERN PaedCan has been assigned to draft an European Standard Clinical Practice (ESCP) document reflecting current best practices for pediatric patients and (healthy) relatives with (suspected) familial leukemia. The group was supported by members of the German network for rare diseases MyPred, of the Host Genome Working Group of SIOPE, and of the COST action LEGEND. The ESCP on familial leukemia is proposed by an interdisciplinary team of experts including hematologists, oncologists, and human geneticists. It is intended to provide general recommendations in areas where disease-specific recommendations do not yet exist. Here, we describe key issues for the medical care of familial leukemia that shall pave the way for a future consensus guideline: (i) identification of individuals with or suggestive of familial leukemia, (ii) genetic analysis and variant interpretation, (iii) genetic counseling and patient education, and (iv) surveillance and (psychological) support. To address the question on how to proceed with individuals suggestive of or at risk of familial leukemia, we developed an algorithm covering four different, partially linked clinical scenarios, and additionally a decision tree to guide clinicians in their considerations regarding familial leukemia in minors with HM. Our recommendations cover, not only patients but also relatives that both should have access to adequate medical

Published
2023

6. P051 - Topic: AS04-MDS Biology and Pathogenesis/AS04d-Somatic mutations: THE EVOLVING GENETIC LANDSCAPE OF PEDIATRIC MDS-EB

Author

Erlacher, M., Yoshimi, A., Stasik, S., Ramamoorthy, S., Lebrecht, D., Noellke, P., Goehring, G., De Haas, V., Starý, J., Masetti, R., Ussowicz, M., Barzilai-Birenboim, S., De Moerloose, B., Kállay, K., Buechner, J., Dworzak, M., Catala, A., Hasle, H., Schmugge, M., Polychronopoulou, S., Boďová, I., Jahnukainen, K., Smith, O., Kavcic, M., Turkiewicz, D., Kjollerstrom, P., Locatelli, F., Wlodarski, M., Thiede, C., Strahm, B., and Niemeyer, C.

Published
2023
Full Text
View/download PDF

10. P816: TRANSIENT MONOSOMY 7 IN SAMD9/9L SYNDROMES: IS IT SAFE TO WATCH AND WAIT?

Author

Erlacher, M., primary, Andresen, F., additional, Yoshimi, A., additional, Sukova, M., additional, Stary, J., additional, de Moerloose, B., additional, Dworzak, M., additional, Polychronopoulou, S., additional, Göhring, G., additional, Kratz, C., additional, van der Werff ten Bosch, J., additional, Seidel, M., additional, Strahm, B., additional, Wlodarski, M., additional, and Niemeyer, C., additional

Published
2022
Full Text
View/download PDF

12. P47 - Topic: AS07-Singular Entities/Subtypes/AS07c-Hereditary MDS including predisposition syndromes: HEMATOPOIETIC STEM CELL TRANSPLANTATION IN CHILDREN AND ADOLESCENTS WITH GATA2-RELATED MYELODYSPLASTIC SYNDROME

Author

Bortnick, R., Wlodarski, M., De Haas, V., De Moerloose, B., Dworzak, M., Hasle, H., Masetti, R., Stary, J., Turkiewicz, D., Ussowicz, M., Kozyra, E., Albert, M., Bader, P., Bordon, V., Cario, G., Beier, R., Schulte, J., Bresters, D., Mueller, I., Pichler, H., Sedlacek, P., Sauer, M., Zecca, M., Göhring, G., Yoshimi, A., Noellke, P., Erlacher, M., Locatelli, F., Niemeyer, C., and Strahm, B.

Published
2021
Full Text
View/download PDF

13. O05 - Topic: AS04-MDS Biology and Pathogenesis/AS04b-Clonal diversity & evolution: SOMATIC GENETIC RESCUE IN SAMD9/SAMD9L MDS PREDISPOSITION SYNDROMES

Author

Sahoo, S., Pastor, V., Goodings, C., Noellke, P., Dworzak, M., Stary, J., Locatelli, F., Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kállay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O., Fabri, O., Barzilai, S., De Haas, V., Baumann, I., Schwarz-Furlan, S., Göhring, G., Yoshimi, A., Flotho, C., Strahm, B., Erlacher, M., Niemeyer, C., and Wlodarski, M.

Published
2021
Full Text
View/download PDF

14. Topic: AS07-Singular Entities/Subtypes/AS07c-Hereditary MDS including predisposition syndromes

Author

Bortnick, R., primary, Wlodarski, M., additional, De Haas, V., additional, De Moerloose, B., additional, Dworzak, M., additional, Hasle, H., additional, Masetti, R., additional, Stary, J., additional, Turkiewicz, D., additional, Ussowicz, M., additional, Kozyra, E., additional, Albert, M., additional, Bader, P., additional, Bordon, V., additional, Cario, G., additional, Beier, R., additional, Schulte, J., additional, Bresters, D., additional, Mueller, I., additional, Pichler, H., additional, Sedlacek, P., additional, Sauer, M., additional, Zecca, M., additional, Göhring, G., additional, Yoshimi, A., additional, Noellke, P., additional, Erlacher, M., additional, Locatelli, F., additional, Niemeyer, C., additional, and Strahm, B., additional

Published
2021
Full Text
View/download PDF

15. Topic: AS04-MDS Biology and Pathogenesis/AS04b-Clonal diversity & evolution

Author

Sahoo, S., primary, Pastor, V., additional, Goodings, C., additional, Noellke, P., additional, Dworzak, M., additional, Stary, J., additional, Locatelli, F., additional, Masetti, R., additional, Schmugge, M., additional, De Moerloose, B., additional, Catala, A., additional, Kállay, K., additional, Turkiewicz, D., additional, Hasle, H., additional, Buechner, J., additional, Jahnukainen, K., additional, Ussowicz, M., additional, Polychronopoulou, S., additional, Smith, O., additional, Fabri, O., additional, Barzilai, S., additional, De Haas, V., additional, Baumann, I., additional, Schwarz-Furlan, S., additional, Göhring, G., additional, Yoshimi, A., additional, Flotho, C., additional, Strahm, B., additional, Erlacher, M., additional, Niemeyer, C., additional, and Wlodarski, M., additional

Published
2021
Full Text
View/download PDF

17. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo S. S., Pastor V. B., Goodings C., Voss R. K., Kozyra E. J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O. P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B. D., Smith O., Haas V. D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P. D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R. D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L. M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M. L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M. R., Sauer M. G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M. H., Meisel R., Schulz A., Cario G., Panda P. K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C. M., Wlodarski M. W., Sahoo S.S., Pastor V.B., Goodings C., Voss R.K., Kozyra E.J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O.P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B.D., Smith O., Haas V.D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P.D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R.D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L.M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M.L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M.R., Sauer M.G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M.H., Meisel R., Schulz A., Cario G., Panda P.K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C.M., Wlodarski M.W., and Clinical Genetics

Subjects
Oncology, Male, medicine.medical_specialty, Monosomy, Adolescent, Somatic cell, Medizin, Bone Marrow Cells, Kaplan-Meier Estimate, General Biochemistry, Genetics and Molecular Biology, Germline, Article, Clonal Evolution, Germline mutation, SDG 3 - Good Health and Well-being, Internal medicine, medicine, Humans, Child, Germ-Line Mutation, Chromosome 7 (human), Cytopenia, clonal hemopoiesis, business.industry, Myelodysplastic syndromes, Tumor Suppressor Proteins, Intracellular Signaling Peptides and Proteins, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, GATA2 Transcription Factor, SAMD9 and SAMD9L mutations, Pediatric Myelodysplastic syndromes, medicine.anatomical_structure, HEK293 Cells, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Myelodysplastic Syndromes, Female, Bone marrow, Clonal Hematopoiesis, Single-Cell Analysis, business
Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children. This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome.

Published
2021

19. Genotype-phenotype association and variant characterization in Diamond Blackfan anemia caused by pathogenic variants in RPL35A

Author

Matthew Gianferante, D., Wlodarski, M. W., Atsidaftos, E., Da Costa, L., Delaporta, P., Farrar, J. E., Goldman, F. D., Hussain, M., Kattamis, A., Leblanc, T., Lipton, J. M., Niemeyer, C. M., Pospisilova, D., Quarello, P., Ramenghi, U., Sankaran, V. G., Vlachos, A., Volejnikova, J., Alter, B. P., Savage, S. A., and Giri, N.

Subjects
Ribosomal Proteins, Phenotype, Diamond-Blackfan, Mutation, Humans, Anemia, Genetic Association Studies, Anemia, Diamond-Blackfan
Published
2021

20. Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), 10.1038/s41591-021-01511-6)

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., and Wlodarski, M. W.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, SAMD9/SAMD9L syndromes
Published
2021

21. Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome

Author

Bortnick, R., Wlodarski, M., de Haas, V., De Moerloose, B., Dworzak, M., Hasle, H., Masetti, R., Stary, J., Turkiewicz, D., Ussowicz, M., Kozyra, E., Albert, M., Bader, P., Bordon, V., Cario, G., Beier, R., Schulte, J., Bresters, D., Muller, I., Pichler, H., Sedlacek, P., Sauer, M. G., Zecca, M., Gohring, G., Yoshimi, A., Noellke, P., Erlacher, M., Locatelli, Franco, Niemeyer, C. M., Strahm, B., Locatelli F. (ORCID:0000-0002-7976-3654), Bortnick, R., Wlodarski, M., de Haas, V., De Moerloose, B., Dworzak, M., Hasle, H., Masetti, R., Stary, J., Turkiewicz, D., Ussowicz, M., Kozyra, E., Albert, M., Bader, P., Bordon, V., Cario, G., Beier, R., Schulte, J., Bresters, D., Muller, I., Pichler, H., Sedlacek, P., Sauer, M. G., Zecca, M., Gohring, G., Yoshimi, A., Noellke, P., Erlacher, M., Locatelli, Franco, Niemeyer, C. M., Strahm, B., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

GATA2 deficiency is a heterogeneous multi-system disorder characterized by a high risk of developing myelodysplastic syndrome (MDS) and myeloid leukemia. We analyzed the outcome of 65 patients reported to the registry of the European Working Group (EWOG) of MDS in childhood carrying a germline GATA2 mutation (GATA2mut) who had undergone hematopoietic stem cell transplantation (HSCT). At 5 years the probability of overall survival and disease-free survival (DFS) was 75% and 70%, respectively. Non-relapse mortality and relapse equally contributed to treatment failure. There was no evidence of increased incidence of graft-versus-host-disease or excessive rates of infections or organ toxicities. Advanced disease and monosomy 7 (−7) were associated with worse outcome. Patients with refractory cytopenia of childhood (RCC) and normal karyotype showed an excellent outcome (DFS 90%) compared to RCC and −7 (DFS 67%). Comparing outcome of GATA2mut with GATA2wt patients, there was no difference in DFS in patients with RCC and normal karyotype. The same was true for patients with −7 across morphological subtypes. We demonstrate that HSCT outcome is independent of GATA2 germline mutations in pediatric MDS suggesting the application of standard MDS algorithms and protocols. Our data support considering HSCT early in the course of GATA2 deficiency in young individuals.

Published
2021

22. Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Author

Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic landscape, phenotype, therapy outcome and clonal architecture of SAMD9/9L syndromes. In consecutively diagnosed MDS, germline SAMD9/9Lmut accounted for 8% and were mutually exclusive with GATA2 mutations present in 7% of the cohort. Among SAMD9/9Lmut cases, refractory cytopenia was the most prevalent MDS subtype (90%); acquired monosomy 7 was present in 38%; constitutional abnormalities were noted in 57%; and immune dysfunction was present in 28%. The clinical outcome was independent of germline mutations. In total, 67 patients had 58 distinct germline SAMD9/9Lmut clustering to protein middle regions. Despite inconclusive in silico prediction, 94% of SAMD9/9Lmut suppressed HEK293 cell growth, and mutations expressed in CD34+ cells induced overt cell death. Furthermore, we found that 61% of SAMD9/9Lmut patients underwent somatic genetic rescue (SGR) resulting in clonal hematopoiesis, of which 95% was maladaptive (monosomy 7 ± cancer mutations), and 51% had adaptive nature (revertant UPD7q, somatic SAMD9/9Lmut). Finally, bone marrow single-cell DNA sequencing revealed multiple competing SGR events in individual patients. Our findings demonstrate that SGR is common in SAMD9/9Lmut MDS and exemplify the exceptional plasticity of hematopoiesis in children.

Published
2021

23. 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

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

Author

Kozyra, E. J., Pastor, V. B., Lefkopoulos, S., Sahoo, S. S., Busch, H., Voss, R. K., Erlacher, M., Lebrecht, D., Szvetnik, E. A., Hirabayashi, S., Pasauliene, R., Pedace, L., Tartaglia, M., Klemann, C., Metzger, P., Boerries, M., Catala, A., Hasle, H., de Haas, V., Kallay, K., Masetti, R., De Moerloose, B., Dworzak, M., Schmugge, M., Smith, O., Stary, J., Mejstrikova, E., Ussowicz, M., Morris, E., Singh, P., Collin, M., Derecka, M., Gohring, G., Flotho, C., Strahm, B., Locatelli, Franco, Niemeyer, C. M., Trompouki, E., Wlodarski, M. W., Locatelli F. (ORCID:0000-0002-7976-3654), Kozyra, E. J., Pastor, V. B., Lefkopoulos, S., Sahoo, S. S., Busch, H., Voss, R. K., Erlacher, M., Lebrecht, D., Szvetnik, E. A., Hirabayashi, S., Pasauliene, R., Pedace, L., Tartaglia, M., Klemann, C., Metzger, P., Boerries, M., Catala, A., Hasle, H., de Haas, V., Kallay, K., Masetti, R., De Moerloose, B., Dworzak, M., Schmugge, M., Smith, O., Stary, J., Mejstrikova, E., Ussowicz, M., Morris, E., Singh, P., Collin, M., Derecka, M., Gohring, G., Flotho, C., Strahm, B., Locatelli, Franco, Niemeyer, C. M., Trompouki, E., Wlodarski, M. W., and Locatelli F. (ORCID:0000-0002-7976-3654)

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

26. Twelfth European Students’ Conference

Author

Geisler, B., primary, Akdenizli, K., additional, Neidhardt, A., additional, Ovaska, E., additional, Recklinghausen, J. V., additional, Schuster, A., additional, Wirth, L., additional, and Wlodarski, M., additional

Published
2020
Full Text
View/download PDF

30. 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

31. S861 LOSS OF THE F-BOX PROTEIN NIPA CAUSES BONE MARROW FAILURE

Author

Kreutmair, S., primary, Erlacher, M., additional, Andrieux, G., additional, Istvanffy, R., additional, Kawaguchi, H., additional, Follo, M., additional, Wlodarski, M., additional, Baumann, I., additional, Pfeifer, D., additional, Dierks, C., additional, Zeiser, R., additional, Schindler, D., additional, Schmitt-Graeff, A., additional, Boerries, M., additional, Niemeyer, C., additional, Oostendorp, R., additional, Duyster, J., additional, and Illert, A.L., additional

Published
2019
Full Text
View/download PDF

33. Both genome and cytosol dynamics change in $\textit{E. coli}$ challenged with sublethal rifampicin

Author

Wlodarski, M, Raciti, B, Kotar, J, Cosentino Lagomarsino, M, Fraser, GM, Cicuta, P, Wlodarski, Michal [0000-0002-3134-6747], Fraser, Gillian [0000-0002-4874-8734], Cicuta, Pietro [0000-0002-9193-8496], and Apollo - University of Cambridge Repository

Subjects
Escherichia coli, Humans, Chromosomes, Bacterial, Rifampin, Escherichia coli Infections, Genome, Bacterial, Anti-Bacterial Agents
Abstract

While the action of many antimicrobial drugs is well understood at the molecular level, a systems-level physiological response to antibiotics remains largely unexplored. This work considers fluctuation dynamics of both the chromosome and cytosol in $\textit{Escherichia coli}$, and their response to sublethal treatments of a clinically important antibiotic, rifampicin. We precisely quantify the changes in dynamics of chromosomal loci and cytosolic aggregates (a rheovirus nonstructural protein known as $\textit{μ}$NS-GFP), measuring short time-scale displacements across several hours of drug exposure. To achieve this we develop an empirical method correcting for photo-bleaching and loci size effects. This procedure allows us to characterize the dynamic response to rifampicin in different growth conditions, including a customised microfluidic device. We find that sub-lethal doses of rifampicin cause a small but consistent increase in motility of both the chromosomal loci and cytosolic aggregates. Chromosomal and cytosolic responses are consistent with each other and between different growth conditions.

Published
2017
Full Text
View/download PDF

34. RAS-pathway mutation patterns define epigenetic subclasses in juvenile myelomonocytic leukemia

Author

Lipka, D. B., Witte, T., Toth, R., Yang, J., Wiesenfarth, M., Nollke, P., Fischer, A., Brocks, D., Gu, Z., Park, J., Strahm, B., Wlodarski, M., Yoshimi, A., Claus, R., Lubbert, M., Busch, H., Boerries, M., Hartmann, M., Schonung, M., Kilik, U., Langstein, J., Wierzbinska, J. A., Pabst, C., Garg, S., Catala, A., De Moerloose, B., Dworzak, M., Hasle, H., Locatelli, Franco, Masetti, R., Schmugge, M., Smith, O., Stary, J., Ussowicz, M., Van Den Heuvel-Eibrink, M. M., Assenov, Y., Schlesner, M., Niemeyer, C., Flotho, C., Plass, C., Locatelli F. (ORCID:0000-0002-7976-3654), Lipka, D. B., Witte, T., Toth, R., Yang, J., Wiesenfarth, M., Nollke, P., Fischer, A., Brocks, D., Gu, Z., Park, J., Strahm, B., Wlodarski, M., Yoshimi, A., Claus, R., Lubbert, M., Busch, H., Boerries, M., Hartmann, M., Schonung, M., Kilik, U., Langstein, J., Wierzbinska, J. A., Pabst, C., Garg, S., Catala, A., De Moerloose, B., Dworzak, M., Hasle, H., Locatelli, Franco, Masetti, R., Schmugge, M., Smith, O., Stary, J., Ussowicz, M., Van Den Heuvel-Eibrink, M. M., Assenov, Y., Schlesner, M., Niemeyer, C., Flotho, C., Plass, C., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Juvenile myelomonocytic leukemia (JMML) is an aggressive myeloproliferative disorder of early childhood characterized by mutations activating RAS signaling. Established clinical and genetic markers fail to fully recapitulate the clinical and biological heterogeneity of this disease. Here we report DNA methylome analysis and mutation profiling of 167 JMML samples. We identify three JMML subgroups with unique molecular and clinical characteristics. The high methylation group (HM) is characterized by somatic PTPN11 mutations and poor clinical outcome. The low methylation group is enriched for somatic NRAS and CBL mutations, as well as for Noonan patients, and has a good prognosis. The intermediate methylation group (IM) shows enrichment for monosomy 7 and somatic KRAS mutations. Hypermethylation is associated with repressed chromatin, genes regulated by RAS signaling, frequent co-occurrence of RAS pathway mutations and upregulation of DNMT1 and DNMT3B, suggesting a link between activation of the DNA methylation machinery and mutational patterns in JMML.

Published
2017

35. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome

Author

Novakova, M, Zaliova, M, Sukova, M, Wlodarski, M, Janda, A, Fronkova, E, Campr, V, Lejhancova, K, Zapletal, O, Pospisilova, D, Cerna, Z, Kuhn, T, Svec, P, Pelkova, V, Zemanova, Z, Kerndrup, G, Van den Heuvel - Eibrink, Marry, van der Velden, Vincent, Niemeyer, C, Kalina, T, Trka, J, Stary, J, Hrusak, O, Mejstrikova, E, and Immunology

Subjects
B-Lymphocytes, Adolescent, Precursor Cells, B-Lymphoid, Anemia, Aplastic, Infant, Bone Marrow Cells, Article, Immunophenotyping, Diagnosis, Differential, GATA2 Transcription Factor, Young Adult, Phenotype, ROC Curve, Bone Marrow, T-Lymphocyte Subsets, hemic and lymphatic diseases, Child, Preschool, Lymphopenia, Myelodysplastic Syndromes, Mutation, Humans, Myeloid Cells, Lymphocyte Count, Child, Biomarkers
Abstract

GATA-2 deficiency was recently described as common cause of overlapping syndromes of immunodeficiency, lymphedema, familiar myelodysplastic syndrome or acute myeloid leukemia. The aim of our study was to analyze bone marrow and peripheral blood samples of children with myelodysplastic syndrome or aplastic anemia to define prevalence of the GATA2 mutation and to assess whether mutations in GATA-2 transcription factor exhibit specific immunophenotypic features. The prevalence of a GATA2 mutation in a consecutively diagnosed cohort of children was 14% in advanced forms of myelodysplastic syndrome (refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and myelodysplasia-related acute myeloid leukemia), 17% in refractory cytopenia of childhood, and 0% in aplastic anemia. In GATA-2-deficient cases, we found the most profound B-cell lymphopenia, including its progenitors in blood and bone marrow, which correlated with significantly diminished intronRSS-Kde recombination excision circles in comparison to other myelodysplastic syndrome/aplastic anemia cases. The other typical features of GATA-2 deficiency (monocytopenia and natural killer cell lymphopenia) were less discriminative. In conclusion, we suggest screening for GATA2 mutations in pediatric myelodysplastic syndrome, preferentially in patients with impaired B-cell homeostasis in bone marrow and peripheral blood (low number of progenitors, intronRSS-Kde recombination excision circles and naïve cells).

Published
2016

36. Chilblain lupus and steroid-responsive pancytopenia precede monosomy 7-linked AML as manifestation of rasopathy

Author

Klobassa, D.S., primary, Dworzak, M.N., additional, Lanz, S., additional, Skrabl-Baumgartner, A., additional, Beham-Schmid, C., additional, Cerroni, L., additional, Haas, O.A., additional, Wlodarski, M., additional, Salzer, U., additional, Lackner, H., additional, Benesch, M., additional, Schwinger, W., additional, Urban, C., additional, and Seidel, Markus G., additional

Published
2017
Full Text
View/download PDF

38. Integrated Analysis of Epigenetic and Genetic Changes During MDS Progression Reveals the Tight Association of Epigenetic Changes with Genetic Selection

Author

Pohl, S., primary, Heudobler, D., additional, Loyola, V. Bengt Pastor, additional, Gebhard, C., additional, Mossner, M., additional, Jann, J.C., additional, Hirabayashi, S., additional, Nowak, D., additional, Wlodarski, M., additional, Hofmann, W.K., additional, Niemeyer, C., additional, and Rehli, M., additional

Published
2017
Full Text
View/download PDF

39. Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants

Author

Pastor, V, primary, Hirabayashi, S, additional, Karow, A, additional, Wehrle, J, additional, Kozyra, E J, additional, Nienhold, R, additional, Ruzaike, G, additional, Lebrecht, D, additional, Yoshimi, A, additional, Niewisch, M, additional, Ripperger, T, additional, Göhring, G, additional, Baumann, I, additional, Schwarz, S, additional, Strahm, B, additional, Flotho, C, additional, Skoda, R C, additional, Niemeyer, C M, additional, and Wlodarski, M W, additional

Published
2016
Full Text
View/download PDF

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

Author

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

Abstract

Contains fulltext : 172597.pdf (Publisher’s version ) (Open Access)

Published
2016

41. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

Author

Wlodarski, M. W., Hirabayashi, S., Pastor, V., Stary, J., Hasle, H., Masetti, R., Dworzak, M., Schmugge, M., Van Den Heuvel-Eibrink, M., Ussowicz, M., De Moerloose, B., Catala, A., Smith, O. P., Sedlacek, P., Lankester, A. C., Zecca, M., Bordon, V., Matthes-Martin, S., Abrahamsson, J., Kuhl, J. S., Sykora, K. -W., Albert, M. H., Przychodzien, B., Maciejewski, J. P., Schwarz, S., Gohring, G., Schlegelberger, B., Cseh, A., Noellke, P., Yoshimi, A., Locatelli, Franco, Baumann, I., Strahm, B., Niemeyer, C. M., Locatelli F. (ORCID:0000-0002-7976-3654), Wlodarski, M. W., Hirabayashi, S., Pastor, V., Stary, J., Hasle, H., Masetti, R., Dworzak, M., Schmugge, M., Van Den Heuvel-Eibrink, M., Ussowicz, M., De Moerloose, B., Catala, A., Smith, O. P., Sedlacek, P., Lankester, A. C., Zecca, M., Bordon, V., Matthes-Martin, S., Abrahamsson, J., Kuhl, J. S., Sykora, K. -W., Albert, M. H., Przychodzien, B., Maciejewski, J. P., Schwarz, S., Gohring, G., Schlegelberger, B., Cseh, A., Noellke, P., Yoshimi, A., Locatelli, Franco, Baumann, I., Strahm, B., Niemeyer, C. M., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

GermlineGATA2 mutations cause cellular deficiencieswith high propensity for myeloid disease. We investigated 426 children and adolescents with primary myelodysplastic syndrome (MDS) and 82 cases with secondary MDS enrolled in 2 consecutive prospective studies of the European Working Group of MDS in Childhood (EWOGMDS) conducted in Germany over a period of 15 years. Germline GATA2 mutations accounted for 15% of advanced and 7% of all primary MDS cases, but were absent in children with MDS secondary to therapy or acquired aplastic anemia. Mutation carriers were older at diagnosis and more likely to present with monosomy 7 and advanced disease compared with wild-type cases. For stratified analysis according to karyotype, 108 additional primary MDS patients registered with EWOG-MDS were studied. Overall, we identified 57 MDS patients with germline GATA2mutations. GATA2 mutations were highly prevalent among patients with monosomy 7 (37%, all ages) reaching its peak in adolescence (72%of adolescents withmonosomy 7).Unexpectedly, monocytosis was more frequent in GATA2-mutated patients. However, when adjusted for the selection bias from monosomy 7, mutational status had no effect on the hematologic phenotype. Finally, overall survival and outcome of hematopoietic stem cell transplantation (HSCT) were not influenced by mutational status. This study identifies GATA2 mutations as the most common germline defect predisposing to pediatric MDS with a very high prevalence in adolescents with monosomy 7. GATA2 mutations do not confer poor prognosis in childhood MDS. However, the high risk for progression to advanced diseasemust guide decision-making toward timely HSCT.

Published
2016

42. DNA methylation in PRDM8 is indicative for dyskeratosis congenita

Author

Weidner, C I, Lin, Q, Birkhofer, C, Gerstenmaier, U, Kaifie, A, Kirschner, M, Bruns, H, Balabanov, S, Trummer, A, Stockklausner, C, Höchsmann, B, Schrezenmeier, H, Wlodarski, M, Panse, J, Brümmendorf, T H, Beier, F, Wagner, W, Weidner, C I, Lin, Q, Birkhofer, C, Gerstenmaier, U, Kaifie, A, Kirschner, M, Bruns, H, Balabanov, S, Trummer, A, Stockklausner, C, Höchsmann, B, Schrezenmeier, H, Wlodarski, M, Panse, J, Brümmendorf, T H, Beier, F, and Wagner, W

Abstract

Dyskeratosis congenita (DKC) is associated with impaired telomere maintenance and with clinical features of premature aging. In this study, we analysed global DNA methylation (DNAm) profiles of DKC patients. Age-associated DNAm changes were not generally accelerated in DKC, but there were significant differences to DNAm patterns of healthy controls, particularly in CpG sites related to an internal promoter region of PR domain containing 8 (PRDM8). Notably, the same genomic region was also hypermethylated in aplastic anemia (AA) - another bone marrow failure syndrome. Site-specific analysis of DNAm level in PRDM8 with pyrosequencing and MassARRAY validated aberrant hypermethylation in 11 DKC patients and 27 AA patients. Telomere length, measured by flow-FISH, did not directly correlate with DNAm in PRDM8. Therefore the two methods may be complementary to also identify patients with still normal telomere length. In conclusion, blood of DKC patients reveals aberrant DNAm patterns, albeit age-associated DNAm patterns are not generally accelerated. Aberrant hypermethylation is particularly observed in PRDM8 and this may support identification and classification of bone marrow failure syndromes.

Published
2016

43. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

Author

de Latour, R. Peffault, Peters, C., Gibsons, B., Strahm, B., Lankester, A., de Heredia, C. D., Longoni, D., Fioredda, F., Locatelli, F., Yaniv, I., Wachowiak, J., Donadieu, J., Lawitschka, A., Bierings, M., Wlodarski, M., Corbacioglu, S., Bonanomi, S., Samarasinghe, S., Leblanc, T., Dufour, C., Dalle, J-H, Pediat Working Party PDWP, European Grp Blood Marrow, de Latour, R. Peffault, Peters, C., Gibsons, B., Strahm, B., Lankester, A., de Heredia, C. D., Longoni, D., Fioredda, F., Locatelli, F., Yaniv, I., Wachowiak, J., Donadieu, J., Lawitschka, A., Bierings, M., Wlodarski, M., Corbacioglu, S., Bonanomi, S., Samarasinghe, S., Leblanc, T., Dufour, C., Dalle, J-H, Pediat Working Party PDWP, and European Grp Blood Marrow

Published
2015

44. Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia

Author

Sjogren, SE, Siva, K, Soneji, S, George, AJ, Winkler, M, Jaako, P, Wlodarski, M, Karlsson, S, Hannan, RD, Flygare, J, Sjogren, SE, Siva, K, Soneji, S, George, AJ, Winkler, M, Jaako, P, Wlodarski, M, Karlsson, S, Hannan, RD, and Flygare, J

Abstract

Diamond-Blackfan anaemia (DBA) is a rare congenital disease causing severe anaemia and progressive bone marrow failure. The majority of patients carry mutations in ribosomal proteins, which leads to depletion of erythroid progenitors in the bone marrow. As many as 40% of all DBA patients receive glucocorticoids to alleviate their anaemia. However, despite their use in DBA treatment for more than half a century, the therapeutic mechanisms of glucocorticoids remain largely unknown. Therefore we sought to study disease specific effects of glucocorticoid treatment using a ribosomal protein s19 (Rps19) deficient mouse model of DBA. This study determines for the first time that a mouse model of DBA can respond to glucocorticoid treatment, similar to DBA patients. Our results demonstrate that glucocorticoid treatment reduces apoptosis, rescues erythroid progenitor depletion and premature differentiation of erythroid cells. Furthermore, glucocorticoids prevent Trp53 activation in Rps19-deficient cells- in a disease-specific manner. Dissecting the therapeutic mechanisms behind glucocorticoid treatment of DBA provides indispensible insight into DBA pathogenesis. Identifying mechanisms important for DBA treatment also enables development of more disease-specific treatments of DBA.

Published
2015

45. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

Author

Haematologie, Child Health, Regenerative Medicine and Stem Cells, de Latour, R. Peffault, Peters, C., Gibsons, B., Strahm, B., Lankester, A., de Heredia, C. D., Longoni, D., Fioredda, F., Locatelli, F., Yaniv, I., Wachowiak, J., Donadieu, J., Lawitschka, A., Bierings, M., Wlodarski, M., Corbacioglu, S., Bonanomi, S., Samarasinghe, S., Leblanc, T., Dufour, C., Dalle, J-H, Pediat Working Party PDWP, European Grp Blood Marrow, Haematologie, Child Health, Regenerative Medicine and Stem Cells, de Latour, R. Peffault, Peters, C., Gibsons, B., Strahm, B., Lankester, A., de Heredia, C. D., Longoni, D., Fioredda, F., Locatelli, F., Yaniv, I., Wachowiak, J., Donadieu, J., Lawitschka, A., Bierings, M., Wlodarski, M., Corbacioglu, S., Bonanomi, S., Samarasinghe, S., Leblanc, T., Dufour, C., Dalle, J-H, Pediat Working Party PDWP, and European Grp Blood Marrow

Published
2015

46. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes

Author

Peffault De Latour, R., Peters, C., Gibson, B., Strahm, B., Lankester, A., De Heredia, C. D., Longoni, D., Fioredda, F., Locatelli, Franco, Yaniv, I., Wachowiak, J., Donadieu, J., Lawitschka, A., Bierings, M., Wlodarski, M., Corbacioglu, S., Bonanomi, S., Samarasinghe, S., Leblanc, T., Dufour, C., Dalle, J. -H., Locatelli F. (ORCID:0000-0002-7976-3654), Peffault De Latour, R., Peters, C., Gibson, B., Strahm, B., Lankester, A., De Heredia, C. D., Longoni, D., Fioredda, F., Locatelli, Franco, Yaniv, I., Wachowiak, J., Donadieu, J., Lawitschka, A., Bierings, M., Wlodarski, M., Corbacioglu, S., Bonanomi, S., Samarasinghe, S., Leblanc, T., Dufour, C., Dalle, J. -H., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Allogeneic hematopoietic stem cell transplantation (HSCT) offers the potential to cure patients with an inherited bone marrow failure syndrome (IBMFS). However, the procedure involves the risk of treatment-related mortality and may be associated with significant early and late morbidity. For these reasons, the benefits should be carefully weighed against the risks. IBMFS are rare, whereas case reports and small series in the literature illustrate highly heterogeneous practices in terms of indications for HSCT, timing, stem cell source and conditioning regimens. A consensus meeting was therefore held in Vienna in September 2012 on behalf of the European Group for Blood and Marrow Transplantation to discuss HSCT in the setting of IBMFS. This report summarizes the recommendations from this expert panel, including indications for HSCT, timing, stem cell source and conditioning regimen.

Published
2015

49. 48 GATA2-RELATED MYELODYSPLASTIC SYNDROMES (MDS): PREVALENCE, CLINICAL CHARACTERISTICS AND PROGNOSIS

Author

Wlodarski, M., primary, Hirabayashi, S., additional, Pastor, V., additional, Stary, J., additional, Hasle, H., additional, Masetti, R., additional, Dworzak, M., additional, Schmugge, M., additional, van den Heuvel-Eibrink, M., additional, De Moerloose, B., additional, Ussowicz, M., additional, Catala, A., additional, Smith, O., additional, Goehring, G., additional, Schlegelberger, B., additional, Locatelli, F., additional, Makishima, H., additional, Maciejewski, J., additional, Strahm, B., additional, and Niemeyer, C., additional

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results