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1. Prospective use of molecular minimal residual disease for risk stratification in children and adolescents with acute lymphoblastic leukemia: Long-term results of the AIEOP-BFM ALL 2000 trial in Austria

Author

Ronceray, Leila, Dworzak, Michael, Dieckmann, Karin, Ebetsberger-Dachs, Georg, Glogova, Evgenia, Haas, Oskar A., Jones, Neil, Nebral, Karin, Moser, Reinhard, Lion, Thomas, Meister, Bernhard, Panzer-Grümayer, Renate, Strehl, Sabine, Peters, Christina, Pötschger, Ulrike, Urban, Christian, Mann, Georg, and Attarbaschi, Andishe

Published
2024
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2. Neurofibromatose Typ 1: Vorsorgebogen für Kinder und Jugendliche in Österreich: Konsensuspapier des österreichischen NF-Netzwerks

Author

Azizi, Amedeo A., Baumgartner, Alicia-Christina, Seidel, Markus, Zobel, Joachim, Ebetsberger-Dachs, Georg, Zellner, Herta, Rauscher, Christian, Birnbacher, Robert, Pichler, Ursula, Haberlandt, Edda, Hedrich, Cora, Berghoff, Anna Sophie, Gruber, Robert W., Welponer, Tobias, Hutterer, Markus, Krottendorfer, Kerstin, Pletschko, Thomas, and Röhl, Claas

Published
2024
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3. Publisher Erratum: Neurofibromatose Typ 1: Vorsorgebogen für Kinder und Jugendliche in Österreich

Author

Azizi, Amedeo A., Baumgartner, Alicia-Christina, Seidel, Markus, Zobel, Joachim, Ebetsberger-Dachs, Georg, Zellner, Herta, Rauscher, Christian, Birnbacher, Robert, Pichler, Ursula, Haberlandt, Edda, Hedrich, Cora, Berghoff, Anna Sophie, Gruber, Robert W., Welponer, Tobias, Hutterer, Markus, Krottendorfer, Kerstin, Pletschko, Thomas, and Röhl, Claas

Published
2024
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4. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Abinun, Mario, Abrahamsen, Tore G., Albert, Michael H., Almalky, Mohamed, Altaf, Sadaf, Babayeva, Royala, Bakhtiar, Shahrzad, Baris, Safa, Baumann, Ulrich, Becker, Martina, Beier, Rita, Berger, Thomas, Biebl, Ariane, Bielack, Stefan S., Biskup, Saskia, Bode, Sebastian FN, Borchers, Regine, Boztug, Kaan, Brockmann, Knut, Bruwier, Annelyse, Buchholz, Bernd, Caballero-Oteyza, Andres, Cant, Andrew J., Castro, Carla N., Classen, Carl F., Claviez, Alexander, Crazzolara, Roman, Cuntz, Franziska, Dąbrowska-Leonik, Nel, Derichs, Ute, Dückers, Gregor, Eberl, Wolfgang, Ebetsberger-Dachs, Georg, Erlacher, Miriam, Fabre, Alexandre, Faletti, Laura, Farmand, Susan, Figueiredo, Antonio E., Fischer, Marco, Flaadt, Tim, Full, Hermann, Gambineri, Eleonora, Girschick, Hermann, Goldacker, Sigune, Grimbacher, Bodo, Groß, Miriam, Gruhn, Bernd, Haberfellner, Florian, Hague, Rosie, Hauch, Holger, Hauck, Fabian, Heine, Sabine, Huisman, Elise J., Jakovljevic, Gordana, James, Beki, Janda, Ales, Jones, Neil, Kaiser-Labusch, Petra, Kentouche, Karim, Knight, Julian C., Knirsch, Stephanie, Kontny, Udo, Körholz, Julia, Krenn, Thomas, Kuehnle, Ingrid, Kühne, Thomas, Lee-Dimroth, Jae-Yun, Lehmann, Hartwig, Leipold, Alfred, Meinhardt, Andrea, Minkov, Milen, Mönkemöller, Kirsten, Morbach, Henner, Mücke, Urs, Nathrath, Michaela, Naumann-Bartsch, Nora, Neth, Olaf, Niemeyer, Charlotte M., Olbrich, Peter, Ostró, Róbert, Owens, Stephen, Pac, Malgorzata, Pachlopnik Schmid, Jana, Page, Matthew J.T., Pekrun, Arnulf, Prader, Seraina, Proietti, Michele, Rajacic, Nada, Rothoeft, Tobias, Ryan, Clodagh, Salou, Sarah, Salzer, Elisabeth, Savic, Sinisa, Schilling, Freimut H., Schönberger, Stefan, Schuetz, Catharina, Schuez-Havupalo, Linnea, Schulte, Björn, Schulz, Ansgar, Schuster, Volker, Seidel, Markus G., Siepermann, Kathrin, Skomska-Pawliszak, Malgorzata, Smisek, Petr, Soomann, Maarja, Stiefel, Martina, Storck, Simone, Strahm, Brigitte, Streiter, Monika, Teltschik, Heiko-Manuel, Thalhammer, Julian, Tippelt, Stephan, Toskov, Vasil, Trück, Johannes, Vieth, Simon, von Bismarck, Philipp, Wegehaupt, Oliver, Wiesel, Thomas, Wittkowski, Helmut, Yalcin Gungoren, Ezgi, Hägele, Pauline, Staus, Paulina, Scheible, Raphael, Uhlmann, Annette, Heeg, Maximilian, Klemann, Christian, Maccari, Maria Elena, Ritterbusch, Henrike, Armstrong, Martin, Cutcutache, Ioana, Elliott, Katherine S, von Bernuth, Horst, Leahy, Timothy Ronan, Leyh, Jörg, Holzinger, Dirk, Lehmberg, Kai, Svec, Peter, Masjosthusmann, Katja, Hambleton, Sophie, Jakob, Marcus, Sparber-Sauer, Monika, Kager, Leo, Puzik, Alexander, Wolkewitz, Martin, Lorenz, Myriam Ricarda, Schwarz, Klaus, Speckmann, Carsten, Rensing-Ehl, Anne, and Ehl, Stephan

Published
2024
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5. Early-onset autoimmunity associated with SOCS1 haploinsufficiency.

Author

Hadjadj, Jérôme, Castro, Carla Noemi, Tusseau, Maud, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Aladjidi, Nathalie, Armstrong, Martin, Ashrafian, Houman, Cutcutache, Ioana, Ebetsberger-Dachs, Georg, Elliott, Katherine S, Durieu, Isabelle, Fabien, Nicole, Fusaro, Mathieu, Heeg, Maximilian, Schmitt, Yohan, Bras, Marc, Knight, Julian C, Lega, Jean-Christophe, Lesca, Gaetan, Mathieu, Anne-Laure, Moreews, Marion, Moreira, Baptiste, Nosbaum, Audrey, Page, Matthew, Picard, Cécile, Ronan Leahy, T, Rouvet, Isabelle, Ryan, Ethel, Sanlaville, Damien, Schwarz, Klaus, Skelton, Andrew, Viallard, Jean-Francois, Viel, Sebastien, Villard, Marine, Callebaut, Isabelle, Picard, Capucine, Walzer, Thierry, Ehl, Stephan, Fischer, Alain, Neven, Bénédicte, Belot, Alexandre, and Rieux-Laucat, Frédéric

Subjects
T-Lymphocytes, Humans, Autoimmune Diseases, Cytokines, Pedigree, Age of Onset, Signal Transduction, Autoimmunity, Mutation, Models, Molecular, Adolescent, Adult, Child, Child, Preschool, Female, Male, STAT Transcription Factors, Haploinsufficiency, Suppressor of Cytokine Signaling 1 Protein, Human Genome, Rare Diseases, Clinical Research, Genetics, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system
Abstract

Autoimmunity can occur when a checkpoint of self-tolerance fails. The study of familial autoimmune diseases can reveal pathophysiological mechanisms involved in more common autoimmune diseases. Here, by whole-exome/genome sequencing we identify heterozygous, autosomal-dominant, germline loss-of-function mutations in the SOCS1 gene in ten patients from five unrelated families with early onset autoimmune manifestations. The intracellular protein SOCS1 is known to downregulate cytokine signaling by inhibiting the JAK-STAT pathway. Accordingly, patient-derived lymphocytes exhibit increased STAT activation in vitro in response to interferon-γ, IL-2 and IL-4 that is reverted by the JAK1/JAK2 inhibitor ruxolitinib. This effect is associated with a series of in vitro and in vivo immune abnormalities consistent with lymphocyte hyperactivity. Hence, SOCS1 haploinsufficiency causes a dominantly inherited predisposition to early onset autoimmune diseases related to cytokine hypersensitivity of immune cells.

Published
2020

6. Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study

Author

Hägele, Pauline, primary, Staus, Paulina, additional, Scheible, Raphael, additional, Uhlmann, Annette, additional, Heeg, Maximilian, additional, Klemann, Christian, additional, Maccari, Maria Elena, additional, Ritterbusch, Henrike, additional, Armstrong, Martin, additional, Cutcutache, Ioana, additional, Elliott, Katherine S, additional, von Bernuth, Horst, additional, Leahy, Timothy Ronan, additional, Leyh, Jörg, additional, Holzinger, Dirk, additional, Lehmberg, Kai, additional, Svec, Peter, additional, Masjosthusmann, Katja, additional, Hambleton, Sophie, additional, Jakob, Marcus, additional, Sparber-Sauer, Monika, additional, Kager, Leo, additional, Puzik, Alexander, additional, Wolkewitz, Martin, additional, Lorenz, Myriam Ricarda, additional, Schwarz, Klaus, additional, Speckmann, Carsten, additional, Rensing-Ehl, Anne, additional, Ehl, Stephan, additional, Abinun, Mario, additional, Abrahamsen, Tore, additional, Albert, Michael, additional, Almalky, Mohamed, additional, Altaf, Sadaf, additional, Babayeva, Royala, additional, Bakhtiar, Shahrzad, additional, Baris, Safa, additional, Baumann, Ulrich, additional, Becker, Martina, additional, Berger, Thomas, additional, Biebl, Ariane, additional, Bielack, Stefan, additional, Biskup, Saskia, additional, Bismarck, Philipp, additional, Bode, Sebastian, additional, Borchers, Regine, additional, Boztug, Carl Friedrich, additional, Brockmann, Knut, additional, Bruwier, Annelyse, additional, Buchholz, Bernd, additional, Cant, Andrew, additional, Castro, Carla N, additional, Classen, Carl, additional, Claviez, Alexander, additional, Crazzolara, Roman, additional, Cuntz, Franziska, additional, Dąbrowska-Leonik, Nel, additional, Derichs, Ute, additional, Dückers, Gregor, additional, Eberl, Wolfgang, additional, Ebetsberger-Dachs, Georg, additional, Erlacher, Miriam, additional, Fabre, Alexandre, additional, Faletti, Laura, additional, Farmand, Susan, additional, Figueiredo, Antonio, additional, Fischer, Marco, additional, Flaadt, Tim, additional, Full, Hermann, additional, Gambineri, Eleonora, additional, Girschick, Hermann, additional, Goldacker, Sigune, additional, Grimbacher, Bodo, additional, Groß, Miriam, additional, Gruhn, Andrew J, additional, Gungoren, Ezgi, additional, Haberfellner, Florian, additional, Hague, Rosie, additional, Hauch, Holger, additional, Hauck, Fabian, additional, Heine, Sabine, additional, Huisman, Elise, additional, Jakovljevic, Gordana, additional, James, Beki, additional, Janda, Ales, additional, Janda, Małgorzata, additional, Jones, Neil, additional, Kaiser-Labusch, Petra, additional, Kentouche, Karim, additional, Knight, Julian, additional, Knirsch, Stephanie, additional, Kontny, Udo, additional, Körholz, Julia, additional, Krenn, Ezgi Yalcin, additional, Kuehnle, Ingrid, additional, Kühne, Thomas, additional, Lee-Dimroth, Jae-Yun, additional, Lehmann, Hartwig, additional, Leipold, Michael H., additional, Meinhardt, Andrea, additional, Mönkemöller, Kirsten, additional, Morbach, Henner, additional, Mücke, Urs, additional, Nathrath, Michaela, additional, Naumann-Bartsch, Nora, additional, Neth, Olaf, additional, Niemeyer, Charlotte, additional, Olbrich, Peter, additional, Ostró, Róbert, additional, Owens, Stephen, additional, Pac, Malgorzata, additional, Pachlopnik Schmid, Rita, additional, Page, Markus G., additional, Pekrun, Arnulf, additional, Prader, Seraina, additional, Proietti, Michele, additional, Rajacic, Nada, additional, Rothoeft, Tobias, additional, Ryan, Freimut H., additional, Salou, Sarah, additional, Salzer, Elisabeth, additional, Savic, Sinisa, additional, Schilling, Antonio E., additional, Schmid, Jana, additional, Schönberger, Stefan, additional, Schuetz, Catharina, additional, Schuez-Havupalo, Tore G., additional, Schulte, Björn, additional, Schulz, Ansgar, additional, Schuster, Volker, additional, Seidel, Markus, additional, Siepermann, Kathrin, additional, Smisek, Petr, additional, Soomann, Maarja, additional, Stiefel, Martina, additional, Storck, Simone, additional, Strahm, Brigitte, additional, Streiter, Elise J, additional, Teltschik, Charlotte M., additional, Thalhammer, Julian, additional, Tippelt, Stephan, additional, Toskov, Vasil, additional, Trück, Johannes, additional, Vieth, Simon, additional, Wegehaupt, Oliver, additional, and Wiesel, Thomas, additional

Published
2024
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7. Rhabdoid tumors in patients conceived following ART: is there an association?

Author

Nemes, Karolina, primary, Benesch, Martin, additional, Kolarova, Julia, additional, Johann, Pascal, additional, Hasselblatt, Martin, additional, Thomas, Christian, additional, Bens, Susanne, additional, Glaser, Selina, additional, Ammerpohl, Ole, additional, Liaugaudiene, Olga, additional, Sadeghipour, Alireza, additional, von der Weid, Nicolas, additional, Schmid, Irene, additional, Gidding, Corrie, additional, Erdreich-Epstein, Anat, additional, Khurana, Claudia, additional, Ebetsberger-Dachs, Georg, additional, Lemmer, Andreas, additional, Khatib, Ziad, additional, Hernández Marqués, Carmen, additional, Pears, Jane, additional, Quehenberger, Franz, additional, Kordes, Uwe, additional, Vokuhl, Christian, additional, Gerss, Joachim, additional, Schwarz, Heike, additional, Bison, Brigitte, additional, Biegel, Jaclyn A, additional, Siebert, Reiner, additional, and Frühwald, Michael C, additional

Published
2023
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8. P779: LONG-TERM COURSE OF HAX1-RELATED CONGENITAL NEUTROPENIA: AN ANALYSIS OF THE EUROPEAN SEVERE CHRONIC NEUTROPENIA INTERNATIONAL REGISTRY (SCNIR)

Author

Pogozhykh, Denys, primary, Yilmaz Karapinar, Deniz, additional, Klimiankou, Maksim, additional, Gerschmann, Natali, additional, Ebetsberger-Dachs, Georg, additional, Palmblad, Jan, additional, Carlsson, Göran, additional, Masmas, Tania, additional, Kinsey, Sally, additional, Bartels, Marije, additional, Mellor-Heineke, Sabine, additional, Welte, Karl, additional, Skokowa, Julia, additional, and Zeidler, Cornelia, additional

Published
2023
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9. HAX1‐related congenital neutropenia: Long‐term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry ( SCNIR )

Author

Pogozhykh, Denys, primary, Yilmaz Karapinar, Deniz, additional, Klimiankou, Maksim, additional, Gerschmann, Natali, additional, Ebetsberger‐Dachs, Georg, additional, Palmblad, Jan, additional, Carlsson, Göran, additional, Masmas, Tania, additional, Kinsey, Sally, additional, Bartels, Marije, additional, Mellor‐Heineke, Sabine, additional, Welte, Karl, additional, Skokowa, Julia, additional, and Zeidler, Cornelia, additional

Published
2023
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10. Supplementary Table S6 from Impact of Disseminated Neuroblastoma Cells on the Identification of the Relapse-Seeding Clone

Author

Abbasi, M. Reza, primary, Rifatbegovic, Fikret, primary, Brunner, Clemens, primary, Mann, Georg, primary, Ziegler, Andrea, primary, Pötschger, Ulrike, primary, Crazzolara, Roman, primary, Ussowicz, Marek, primary, Benesch, Martin, primary, Ebetsberger-Dachs, Georg, primary, Chan, Godfrey C.F., primary, Jones, Neil, primary, Ladenstein, Ruth, primary, Ambros, Inge M., primary, and Ambros, Peter F., primary

Published
2023
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11. Supplementary Figures S1-S8 from Impact of Disseminated Neuroblastoma Cells on the Identification of the Relapse-Seeding Clone

Author

Abbasi, M. Reza, primary, Rifatbegovic, Fikret, primary, Brunner, Clemens, primary, Mann, Georg, primary, Ziegler, Andrea, primary, Pötschger, Ulrike, primary, Crazzolara, Roman, primary, Ussowicz, Marek, primary, Benesch, Martin, primary, Ebetsberger-Dachs, Georg, primary, Chan, Godfrey C.F., primary, Jones, Neil, primary, Ladenstein, Ruth, primary, Ambros, Inge M., primary, and Ambros, Peter F., primary

Published
2023
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12. HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR)

Author

Haematologie patientenzorg, Poli Van Creveldkliniek Medisch, Child Health, Pogozhykh, Denys, Yilmaz Karapinar, Deniz, Klimiankou, Maksim, Gerschmann, Natali, Ebetsberger-Dachs, Georg, Palmblad, Jan, Carlsson, Göran, Masmas, Tania, Kinsey, Sally, Bartels, Marije, Mellor-Heineke, Sabine, Welte, Karl, Skokowa, Julia, Zeidler, Cornelia, Haematologie patientenzorg, Poli Van Creveldkliniek Medisch, Child Health, Pogozhykh, Denys, Yilmaz Karapinar, Deniz, Klimiankou, Maksim, Gerschmann, Natali, Ebetsberger-Dachs, Georg, Palmblad, Jan, Carlsson, Göran, Masmas, Tania, Kinsey, Sally, Bartels, Marije, Mellor-Heineke, Sabine, Welte, Karl, Skokowa, Julia, and Zeidler, Cornelia

Published
2023

13. NFB-13. Rhabdoid Tumor Predisposition Syndrome (RTPS) – Finding Evidence by systematic Analyses

Author

Nemes, Karolina, primary, Bens, Susanne, additional, Johann, Pascal D, additional, Steinbügl, Mona, additional, Gruhle, Miriam, additional, Kachanov, Denis, additional, Teleshova, Margarita, additional, Hauser, Peter, additional, Simon, Thorsten, additional, Tippelt, Stephan, additional, Eberl, Wolfgang, additional, Woessmann, Wilhelm, additional, Kratz, Christian, additional, Abbink, Floor, additional, Hernáiz-Driever, Pablo, additional, Eyrich, Matthias, additional, Sumerauer, David, additional, Milde, Till, additional, Reinhard, Harald, additional, Leipold, Alfred, additional, de Wetering, Marianne v, additional, Gil-da-Costa, Maria João, additional, Ebetsberger-Dachs, Georg, additional, Marques, Carmen Hernandez, additional, Bauer, Nina, additional, Biassoni, Veronica, additional, Meneses, Clarice Franco, additional, Knirsch, Stephanie, additional, Lauten, Melchior, additional, Gerber, Nicolas U, additional, Chada, Martin, additional, Kerl, Kornelius, additional, Lemmer, Andreas, additional, Heidrun, Boztug, additional, Kuhlen, Michaela, additional, Furtwängler, Rhoikos, additional, Kordes, Uwe, additional, Schneppenheim, Reiner, additional, Vokuhl, Christian, additional, Hasselblatt, Martin, additional, Kröncke, Thomas, additional, Bison, Brigitte, additional, Melchior, Patrick, additional, Timmermann, Beate, additional, Gerss, Joachim, additional, Siebert, Reiner, additional, and Frühwald, Michael C, additional

Published
2022
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14. ATRT-04. Clinical and (epi)genetic characterisation of patients with atypical teratoid/rhabdoid tumor (ATRT) and extracranial malignant rhabdoid tumor conceived following assisted reproduction technologies (ART)

Author

Nemes, Karolina, primary, Benesch, Martin, additional, Kolerova, Julia, additional, Johann, Pascal, additional, Hasselblatt, Martin, additional, Thomas, Christian, additional, Bens, Susanne, additional, Liaugaudiene, Olga, additional, Sadeghipour, Alireza, additional, von der Weid, Nicolas, additional, Schmid, Irene, additional, Gidding, Corrie, additional, Erdreich-Epstein, Anat, additional, Khurana, Claudia, additional, Ebetsberger-Dachs, Georg, additional, Lemmer, Andreas, additional, Marqués, Carmen Hernández, additional, Khatib, Ziad, additional, Pears, Jane, additional, Quehenberger, Franz, additional, Biegel, Jaclyn A, additional, Siebert, Reiner, additional, and Frühwald, Michael C, additional

Published
2022
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15. ATRT-05. Infants and newborns with atypical teratoid/rhabdoid tumors (ATRT) and extracranial malignant rhabdoid tumors: a unique and challenging population

Author

Nemes, Karolina, primary, Johann, Pascal D, additional, Steinbügl, Mona, additional, Gruhle, Miriam, additional, Bens, Susanne, additional, Kachanov, Denis, additional, Teleshova, Margarita, additional, Peter, Hauser, additional, Simon, Thorsten, additional, Tippelt, Stephan, additional, Eberl, Wolfgang, additional, Chada, Martin, additional, Lopez, Vicente Santa-Maria, additional, Grigull, Lorenz, additional, Hernáiz-Driever, Pablo, additional, Eyrich, Matthias, additional, Pears, Jane, additional, Milde, Till, additional, Reinhard, Harald, additional, Leipold, Alfred, additional, de Wetering, Marianne v, additional, João Gil-da-Costa, Maria, additional, Ebetsberger-Dachs, Georg, additional, Kerl, Kornelius, additional, Lemmer, Andreas, additional, Boztug, Heidrun, additional, Furtwängler, Rhoikos, additional, Kordes, Uwe, additional, Siebert, Reiner, additional, Vokuhl, Christian, additional, Hasselblatt, Martin, additional, Bison, Brigitte, additional, Kröncke, Thomas, additional, Melchior, Patrick, additional, Timmermann, Beate, additional, Gerss, Joachim, additional, and Frühwald, Michael C, additional

Published
2022
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16. Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population

Author

Nemes, Karolina, Johann, Pascal D., Steinbuegl, Mona, Gruhle, Miriam, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita, Hauser, Peter, Simon, Thorsten, Tippelt, Stephan, Eberl, Wolfgang, Chada, Martin, Lopez, Vicente Santa-Maria, Grigull, Lorenz, Hernaiz-Driever, Pablo, Eyrich, Matthias, Pears, Jane, Milde, Till, Reinhard, Harald, Leipold, Alfred, van de Wetering, Marianne, Gil-da-Costa, Maria Joao, Ebetsberger-Dachs, Georg, Kerl, Kornelius, Lemmer, Andreas, Boztug, Heidrun, Furtwaengler, Rhoikos, Kordes, Uwe, Vokuhl, Christian, Hasselblatt, Martin, Bison, Brigitte, Kroencke, Thomas, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, Siebert, Reiner, Fruehwald, Michael C., Nemes, Karolina, Johann, Pascal D., Steinbuegl, Mona, Gruhle, Miriam, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita, Hauser, Peter, Simon, Thorsten, Tippelt, Stephan, Eberl, Wolfgang, Chada, Martin, Lopez, Vicente Santa-Maria, Grigull, Lorenz, Hernaiz-Driever, Pablo, Eyrich, Matthias, Pears, Jane, Milde, Till, Reinhard, Harald, Leipold, Alfred, van de Wetering, Marianne, Gil-da-Costa, Maria Joao, Ebetsberger-Dachs, Georg, Kerl, Kornelius, Lemmer, Andreas, Boztug, Heidrun, Furtwaengler, Rhoikos, Kordes, Uwe, Vokuhl, Christian, Hasselblatt, Martin, Bison, Brigitte, Kroencke, Thomas, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, Siebert, Reiner, and Fruehwald, Michael C.

Abstract

Simple Summary Malignant rhabdoid tumors (MRT) are deadly tumors that predominantly affect infants and young children. Even when considering the generally young age of these patients, the treatment of infants below the age of six months represents a particular challenge due to the vulnerability of this patient population. The aim of our retrospective study was to assess the available information on prognostic factors, genetics, toxicity of treatment and long-term outcomes of MRT. We confirmed that, in a cohort of homogenously treated infants with MRT, significant predictors of outcome were female sex, localized stage, absence of a GLM and maintenance therapy, and these significantly favorably influence prognosis. Stratification-based biomarker-driven tailored trials may be a key option to improve survival rates. Introduction: Malignant rhabdoid tumors (MRT) predominantly affect infants and young children. Patients below six months of age represent a particularly therapeutically challenging group. Toxicity to developing organ sites limits intensity of treatment. Information on prognostic factors, genetics, toxicity of treatment and long-term outcomes is sparse. Methods: Clinical, genetic, and treatment data of 100 patients (aged below 6 months at diagnosis) from 13 European countries were analyzed (2005-2020). Tumors and matching blood samples were examined for SMARCB1 mutations using FISH, MLPA and Sanger sequencing. DNA methylation subgroups (ATRT-TYR, ATRT-SHH, and ATRT-MYC) were determined using 450 k / 850 k-profiling. Results: A total of 45 patients presented with ATRT, 29 with extracranial, extrarenal (eMRT) and 9 with renal rhabdoid tumors (RTK). Seventeen patients demonstrated synchronous tumors (SYN). Metastases (M+) were present in 27% (26/97) at diagnosis. A germline mutation (GLM) was detected in 55% (47/86). DNA methylation subgrouping was available in 50% (31 / 62) with ATRT or SYN; for eMRT, methylation-based subgrouping was not performed. The 5-year

Published
2022

17. Infants and Newborns with Atypical Teratoid Rhabdoid Tumors (ATRT) and Extracranial Malignant Rhabdoid Tumors (eMRT) in the EU-RHAB Registry: A Unique and Challenging Population

Author

Nemes, Karolina, primary, Johann, Pascal D., additional, Steinbügl, Mona, additional, Gruhle, Miriam, additional, Bens, Susanne, additional, Kachanov, Denis, additional, Teleshova, Margarita, additional, Hauser, Peter, additional, Simon, Thorsten, additional, Tippelt, Stephan, additional, Eberl, Wolfgang, additional, Chada, Martin, additional, Lopez, Vicente Santa-Maria, additional, Grigull, Lorenz, additional, Hernáiz-Driever, Pablo, additional, Eyrich, Matthias, additional, Pears, Jane, additional, Milde, Till, additional, Reinhard, Harald, additional, Leipold, Alfred, additional, van de Wetering, Marianne, additional, Gil-da-Costa, Maria João, additional, Ebetsberger-Dachs, Georg, additional, Kerl, Kornelius, additional, Lemmer, Andreas, additional, Boztug, Heidrun, additional, Furtwängler, Rhoikos, additional, Kordes, Uwe, additional, Vokuhl, Christian, additional, Hasselblatt, Martin, additional, Bison, Brigitte, additional, Kröncke, Thomas, additional, Melchior, Patrick, additional, Timmermann, Beate, additional, Gerss, Joachim, additional, Siebert, Reiner, additional, and Frühwald, Michael C., additional

Published
2022
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18. Long-Term Outcome and Role of Biology within Risk-Adapted Treatment Strategies: The Austrian Neuroblastoma Trial A-NB94

Author

Fiedler, Stefan, primary, Ambros, Inge M., additional, Glogova, Evgenia, additional, Benesch, Martin, additional, Urban, Christian, additional, Mayer, Marlene, additional, Ebetsberger-Dachs, Georg, additional, Bardi, Edit, additional, Jones, Neil, additional, Gamper, Agnes, additional, Meister, Bernhard, additional, Crazzolara, Roman, additional, Amann, Gabriele, additional, Dieckmann, Karin, additional, Horcher, Ernst, additional, Kerbl, Reinhold, additional, Brunner-Herglotz, Bettina, additional, Ziegler, Andrea, additional, Ambros, Peter F., additional, and Ladenstein, Ruth, additional

Published
2021
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19. Management of children and adolescents with gray zone lymphoma: A case series.

Author

Perwein, Thomas, Lackner, Herwig, Ebetsberger‐Dachs, Georg, Beham‐Schmid, Christine, Zach, Klara, Tamesberger, Melanie, Simonitsch‐Klupp, Ingrid, Lüftinger, Roswitha, Dworzak, Michael, Mann, Georg, Benesch, Martin, Attarbaschi, Andishe, Ebetsberger-Dachs, Georg, Beham-Schmid, Christine, Simonitsch-Klupp, Ingrid, and Austrian Society of Pediatric Hematology and Oncology and the Austrian Berlin-Frankfurt-Münster (BFM) Study Group

Published
2020
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20. Assisted reproductive technologies and the development of malignant rhabdoid tumour

Author

Nemes, Karolina, Hasselblatt, Martin, Bens, Susanne, Erdreich-Epstein, Anat, Biegel, Jaclyn, Khatib, Ziad, Liaugaudiene, Olga, Sadeghipour, Alireza, Ebetsberger-Dachs, Georg, Lemmer, Andreas, Khurana, Claudia, von der Weid, Nicolas, Schmid, Irene, Mora, Jaume, Marques, Carmen Hernandez, Pears, Jane, Timmermann, Beate, Kodes, Uwe, Gerss, Joachim, Furtwängler, Rhoikos, Siebert, Reiner, and Frühwald, Michael Christoph

Subjects
Medizin
Published
2018

21. Spinal cord atypical teratoid/rhabdoid tumors (AT/RT) in children : Results of a European retrospective analysis under the auspices of the EU-RHAB study group

Author

Benesch, Martin, Neumayer, Petra, Nemes, Karolina, Pietsch, Torsten, Timmermann, Beate, Bison, Brigitte, Warmuth-Metz, Monika, Driever, Pablo Hernáiz, Ebetsberger-Dachs, Georg, Bourdeaut, Franck, Dufour, Christelle, Fouyssac, Fanny, Hasselblatt, Martin, Biassoni, Veronica, La Madrid, Andrés Morales, Entz-Werle, Natacha, Laithier, Véronique, Quehenberger, Franz, and Fruhwald, Michael C.

Subjects
Medizin
Published
2018

22. Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort

Author

Benesch, Martin, primary, Nemes, Karolina, additional, Neumayer, Petra, additional, Hasselblatt, Martin, additional, Timmermann, Beate, additional, Bison, Brigitte, additional, Ebetsberger‐Dachs, Georg, additional, Bourdeaut, Franck, additional, Dufour, Christelle, additional, Biassoni, Veronica, additional, Morales La Madrid, Andrés, additional, Entz‐Werle, Natacha, additional, Laithier, Véronique, additional, Quehenberger, Franz, additional, Weis, Serge, additional, Sumerauer, David, additional, Siebert, Reiner, additional, Bens, Susanne, additional, Schneppenheim, Reinhard, additional, Kool, Marcel, additional, Modena, Piergiorgio, additional, Fouyssac, Fanny, additional, and C. Frühwald, Michael, additional

Published
2019
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23. ATRT-15. SPINAL CORD ATYPICAL TERATOID/RHABDOID TUMORS (AT/RT) IN CHILDREN: RESULTS OF A EUROPEAN RETROSPECTIVE ANALYSIS UNDER THE AUSPICES OF THE EU-RHAB STUDY GROUP

Author

Benesch, Martin, primary, Neumayer, Petra, additional, Nemes, Karolina, additional, Pietsch, Torsten, additional, Timmermann, Beate, additional, Bison, Brigitte, additional, Warmuth-Metz, Monika, additional, Driever, Pablo Hernáiz, additional, Ebetsberger-Dachs, Georg, additional, Bourdeaut, Franck, additional, Dufour, Christelle, additional, Fouyssac, Fanny, additional, Hasselblatt, Martin, additional, Biassoni, Veronica, additional, La Madrid, Andrés Morales, additional, Entz-Werle, Natacha, additional, Laithier, Véronique, additional, Quehenberger, Franz, additional, and Frühwald, Michael C, additional

Published
2018
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24. ATRT-17. ASSISTED REPRODUCTIVE TECHNOLOGIES AND THE DEVELOPMENT OF MALIGNANT RHABDOID TUMOURS

Author

Nemes, Karolina, primary, Hasselblatt, Martin, additional, Bens, Susanne, additional, Erdreich-Epstein, Anat, additional, Biegel, Jaclyn, additional, Khatib, Ziad, additional, Liaugaudiene, Olga, additional, Sadeghipour, Alireza, additional, Ebetsberger-Dachs, Georg, additional, Lemmer, Andreas, additional, Khurana, Claudia, additional, von der Weid, Nicolas, additional, Schmid, Irene, additional, Mora, Jaume, additional, Marques, Carmen Hernandez, additional, Pears, Jane, additional, Timmermann, Beate, additional, Kodes, Uwe, additional, Gerss, Joachim, additional, Furtwängler, Rhoikos, additional, Siebert, Reiner, additional, and Frühwald, Michael Christoph, additional

Published
2018
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25. Clinical characteristics and outcome of 60 pediatric patients with malignant melanoma registered with the German Pediatric Rare Tumor Registry (STEP)

Author

Offenmueller, Sonja, additional, Leiter, Ulrike, additional, Bernbeck, Benedikt, additional, Garbe, Claus, additional, Eigentler, Thomas, additional, Borkhardt, Arndt, additional, Classen, Carl Friedrich, additional, Corbacioglu, Selim, additional, Dirksen, Uta, additional, Ebetsberger-Dachs, Georg, additional, Heinzerling, Lucie, additional, Jorch, Norbert, additional, Kuhlen, Michaela, additional, Lawlor, Jennifer, additional, Niggli, Felix, additional, Streiter, Monika, additional, Schneider, Dominik T, additional, and Brecht, Ines, additional

Published
2017
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26. Impact of Disseminated Neuroblastoma Cells on the Identification of the Relapse-Seeding Clone

Author

Abbasi, M. Reza, primary, Rifatbegovic, Fikret, additional, Brunner, Clemens, additional, Mann, Georg, additional, Ziegler, Andrea, additional, Pötschger, Ulrike, additional, Crazzolara, Roman, additional, Ussowicz, Marek, additional, Benesch, Martin, additional, Ebetsberger-Dachs, Georg, additional, Chan, Godfrey C.F., additional, Jones, Neil, additional, Ladenstein, Ruth, additional, Ambros, Inge M., additional, and Ambros, Peter F., additional

Published
2017
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27. Clinical characteristics and outcome of 60 pediatric patients with malignant melanoma registered with the German Pediatric Rare Tumor Registry (STEP).

Author

Ofenmueller, Sonja, Leiter, Ulrike, Bernbeck, Benedikt, Garbe, Claus, Eigentler, Thomas, Borkhardt, Arndt, Classen, Carl Friedrich, Corbacioglu, Selim, Dirksen, Uta, Ebetsberger-Dachs, Georg, Heinzerling, Lucie, Jorch, Norbert, Kuhlen, Michaela, Lawlor, Jennifer, Niggli, Felix, Streiter, Monika, Schneider, Dominik T., and Brecht, Ines

Published
2017
Full Text
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29. Spinal cord atypical teratoid/rhabdoid tumors in children: Clinical, genetic, and outcome characteristics in a representative European cohort.

Author

Benesch, Martin, Nemes, Karolina, Neumayer, Petra, Hasselblatt, Martin, Timmermann, Beate, Bison, Brigitte, Ebetsberger‐Dachs, Georg, Bourdeaut, Franck, Dufour, Christelle, Biassoni, Veronica, Morales La Madrid, Andrés, Entz‐Werle, Natacha, Laithier, Véronique, Quehenberger, Franz, Weis, Serge, Sumerauer, David, Siebert, Reiner, Bens, Susanne, Schneppenheim, Reinhard, and Kool, Marcel

Published
2020
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30. RHABDOID TUMOR PREDISPOSITION SYNDROME (RTPS) - FINDING EVIDENCE BY SYSTEMATIC ANALYSES

Author

Nemes, Karolina, Bens, Susanne, Johann, Pascal D., Steinbuegl, Mona, Gruhle, Miriam, Kachanov, Denis, Teleshova, Margarita, Hauser, Peter, Simon, Thorsten, Tippelt, Stephan, Eberl, Wolfgang, Woessmann, Wilhelm, Kratz, Christian, Abbink, Floor, Hernaiz-Driever, Pablo, Matthias Eyrich, Sumerauer, David, Milde, Till, Reinhard, Harald, Leipold, Alfred, Wetering, Marianne, Gil-Da-Costa, Maria Joao, Ebetsberger-Dachs, Georg, Hernandez Marques, Carmen, Bauer, Nina, Biassoni, Veronica, Meneses, Clarice Franco, Knirsch, Stephanie, Lauten, Melchior, Gerber, Nicolas U., Chada, Martin, Kerl, Kornelius, Lemmer, Andreas, Heidrun, Boztug, Kuhlen, Michaela, Furtwaengler, Rhoikos, Kordes, Uwe, Schneppenheim, Reiner, Vokuhl, Christian, Hasselblatt, Martin, Kroencke, Thomas, Bison, Brigitte, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, Siebert, Reiner, and Fruehwald, Michael C.

31. INFANTS AND NEWBORNS WITH ATYPICAL TERATOID/RHABDOID TUMORS (ATRT) AND EXTRACRANIAL MALIGNANT RHABDOID TUMORS: A UNIQUE AND CHALLENGING POPULATION

Author

Nemes, Karolina, Johann, Pascal D., Steinbuegl, Mona, Gruhle, Miriam, Bens, Susanne, Kachanov, Denis, Teleshova, Margarita, Peter, Hauser, Simon, Thorsten, Tippelt, Stephan, Eberl, Wolfgang, Chada, Martin, Santa-Maria Lopez, Vicente, Grigull, Lorenz, Hernaiz-Driever, Pablo, Matthias Eyrich, Pears, Jane, Milde, Till, Reinhard, Harald, Leipold, Alfred, Wetering, Marianne V., Gil-Da-Costa, Maria Joao, Ebetsberger-Dachs, Georg, Kerl, Kornelius, Lemmer, Andreas, Boztug, Heidrun, Furtwaengler, Rhoikos, Kordes, Uwe, Siebert, Reiner, Vokuhl, Christian, Hasselblatt, Martin, Bison, Brigitte, Kroencke, Thomas, Melchior, Patrick, Timmermann, Beate, Gerss, Joachim, and Fruehwald, Michael C.

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