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28 results on '"Wawer, Angela"'

1. Incidence of subsequent malignancies after total body irradiation-based allogeneic HSCT in children with ALL – long-term follow-up from the prospective ALL-SCT 2003 trial

Author

Eichinger, Anna, Poetschger, Ulrike, Glogova, Evgenia, Bader, Peter, Basu, Oliver, Beier, Rita, Burkhardt, Birgit, Classen, Carl-Friedrich, Claviez, Alexander, Corbacioglu, Selim, Deubzer, Hedwig E., Greil, Johann, Gruhn, Bernd, Güngör, Tayfun, Kafa, Kinan, Kühl, Jörn-Sven, Lang, Peter, Lange, Bjoern Soenke, Meisel, Roland, Müller, Ingo, Sauer, Martin G., Schlegel, Paul-Gerhardt, Schulz, Ansgar, Stachel, Daniel, Strahm, Brigitte, Wawer, Angela, Peters, Christina, and Albert, Michael H.

Published
2022
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2. Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders

Author

Slack, James, Albert, Michael H, Balashov, Dmitry, Belohradsky, Bernd H, Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H, Ouachée-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I, Grunebaum, Eyal, Güngör, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gülsün, Kucuk, Zeynep Y, Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D, Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R, Shaw, Peter J, Slatter, Mary A, Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kuśnierz, Beata, Cowan, Morton J, Fischer, Alain, and Gennery, Andrew R

Subjects
Rare Diseases, Transplantation, Hematology, Genetics, Cancer, Pediatric, Adolescent, Alleles, Child, Child, Preschool, DNA Breaks, Double-Stranded, DNA Repair, DNA Repair-Deficiency Disorders, Female, Follow-Up Studies, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosis, Treatment Outcome, Virus Diseases, Young Adult, Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe, Center for International Blood and Marrow Transplant Research, Primary Immunodeficiency Treatment Consortium, Immunology, Allergy
Abstract

BackgroundRare DNA breakage repair disorders predispose to infection and lymphoreticular malignancies. Hematopoietic cell transplantation (HCT) is curative, but coadministered chemotherapy or radiotherapy is damaging because of systemic radiosensitivity. We collected HCT outcome data for Nijmegen breakage syndrome, DNA ligase IV deficiency, Cernunnos-XRCC4-like factor (Cernunnos-XLF) deficiency, and ataxia-telangiectasia (AT).MethodsData from 38 centers worldwide, including indication, donor, conditioning regimen, graft-versus-host disease, and outcome, were analyzed. Conditioning was classified as myeloablative conditioning (MAC) if it contained radiotherapy or alkylators and reduced-intensity conditioning (RIC) if no alkylators and/or 150 mg/m2 fludarabine or less and 40 mg/kg cyclophosphamide or less were used.ResultsFifty-five new, 14 updated, and 18 previously published patients were analyzed. Median age at HCT was 48 months (range, 1.5-552 months). Twenty-nine patients underwent transplantation for infection, 21 had malignancy, 13 had bone marrow failure, 13 received pre-emptive transplantation, 5 had multiple indications, and 6 had no information. Twenty-two received MAC, 59 received RIC, and 4 were infused; information was unavailable for 2 patients. Seventy-three of 77 patients with DNA ligase IV deficiency, Cernunnos-XLF deficiency, or Nijmegen breakage syndrome received conditioning. Survival was 53 (69%) of 77 and was worse for those receiving MAC than for those receiving RIC (P = .006). Most deaths occurred early after transplantation, suggesting poor tolerance of conditioning. Survival in patients with AT was 25%. Forty-one (49%) of 83 patients experienced acute GvHD, which was less frequent in those receiving RIC compared with those receiving MAC (26/56 [46%] vs 12/21 [57%], P = .45). Median follow-up was 35 months (range, 2-168 months). No secondary malignancies were reported during 15 years of follow-up. Growth and developmental delay remained after HCT; immune-mediated complications resolved.ConclusionRIC HCT resolves DNA repair disorder-associated immunodeficiency. Long-term follow-up is required for secondary malignancy surveillance. Routine HCT for AT is not recommended.

Published
2018

4. No Improvement of Survival for Alveolar Rhabdomyosarcoma Patients After HLA-Matched Versus -Mismatched Allogeneic Hematopoietic Stem Cell Transplantation Compared to Standard-of-Care Therapy

Author

Schober, Sebastian Johannes, Hallmen, Erika, Ressle, Florian, Gassmann, Hendrik, Prexler, Carolin, Wawer, Angela, von Luettichau, Irene, Ladenstein, Ruth, Kazanowska, Bernarda, Ljungman, Gustaf, Niggli, Felix, Lohi, Olli, Hauer, Julia, Gruhn, Bernd, Klingebiel, Thomas, Bader, Peter, Burdach, Stefan, Lang, Peter, Sparber-Sauer, Monika, Koscielniak, Ewa, Thiel, Uwe, Schober, Sebastian Johannes, Hallmen, Erika, Ressle, Florian, Gassmann, Hendrik, Prexler, Carolin, Wawer, Angela, von Luettichau, Irene, Ladenstein, Ruth, Kazanowska, Bernarda, Ljungman, Gustaf, Niggli, Felix, Lohi, Olli, Hauer, Julia, Gruhn, Bernd, Klingebiel, Thomas, Bader, Peter, Burdach, Stefan, Lang, Peter, Sparber-Sauer, Monika, Koscielniak, Ewa, and Thiel, Uwe

Abstract

BackgroundPatients with stage IV alveolar rhabdomyosarcoma (RMA) have a 5-year-survival rate not exceeding 30%. Here, we assess the role of allogeneic hematopoietic stem cell transplantation (allo-HSCT) for these patients in comparison to standard-of-care regimens. We also compare the use of HLA-mismatched vs. HLA-matched grafts after reduced vs. myeloablative conditioning regimens, respectively. Patients and MethodsIn this retrospective analysis, we compare event-free survival (EFS), overall survival (OS), and toxicity of HLA-mismatched vs. -matched transplanted patients in uni- and multivariate analyses (total: n = 50, HLA-matched: n = 15, HLA-mismatched: n = 35). Here, the factors age at diagnosis, age at allo-HSCT, sex, Oberlin score, disease status at allo-HSCT, and HLA graft type are assessed. For 29 primarily transplanted patients, three matched non-transplanted patients per one transplanted patient were identified from the CWS registry. Outcomes were respectively compared for OS and EFS. Matching criteria included sex, age at diagnosis, favorable/unfavorable primary tumor site, and metastatic sites. ResultsMedian EFS and OS did not differ significantly between HLA-mismatched and -matched patients. In the mismatched group, incidence of acute GvHD was 0.87 (grade III-IV: 0.14) vs. 0.80 in HLA-matched patients (grade III-IV: 0.20). Transplant-related mortality (TRM) of all patients was 0.20 and did not differ significantly between HLA-mismatched and -matched groups. A proportion of 0.58 relapsed or progressed and died of disease (HLA-mismatched: 0.66, HLA-matched: 0.53) whereas 0.18 were alive in complete remission (CR) at data collection. Multivariate and competing risk analyses confirmed CR and very good partial response (VGPR) status prior to allo-HSCT as the only decisive predictor for OS (p < 0.001). Matched-pair survival analyses of primarily transplanted patients vs. matched non-transplanted patients also identified disease status prior to allo-HSCT (

Published
2022
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5. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Author

Pagel, Julia, Beutel, Karin, Lehmberg, Kai, Koch, Florian, Maul-Pavicic, Andrea, Rohlfs, Anna-Katharina, Al-Jefri, Abdullah, Beier, Rita, Bomme Ousager, Lilian, Ehlert, Karoline, Gross-Wieltsch, Ute, Jorch, Norbert, Kremens, Bernhard, Pekrun, Arnulf, Sparber-Sauer, Monika, Mejstrikova, Ester, Wawer, Angela, Ehl, Stephan, zur Stadt, Udo, and Janka, Gritta

Published
2012
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6. No Improvement of Survival for Alveolar Rhabdomyosarcoma Patients After HLA-Matched Versus -Mismatched Allogeneic Hematopoietic Stem Cell Transplantation Compared to Standard-of-Care Therapy

Author

Schober, Sebastian Johannes, primary, Hallmen, Erika, additional, Reßle, Florian, additional, Gassmann, Hendrik, additional, Prexler, Carolin, additional, Wawer, Angela, additional, von Luettichau, Irene, additional, Ladenstein, Ruth, additional, Kazanowska, Bernarda, additional, Ljungman, Gustaf, additional, Niggli, Felix, additional, Lohi, Olli, additional, Hauer, Julia, additional, Gruhn, Bernd, additional, Klingebiel, Thomas, additional, Bader, Peter, additional, Burdach, Stefan, additional, Lang, Peter, additional, Sparber-Sauer, Monika, additional, Koscielniak, Ewa, additional, and Thiel, Uwe, additional

Published
2022
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7. Incidence of Secondary Malignancies after Total Body Irradiation-Based Allogeneic HSCT in Children with ALL – Long-Term Follow-up from the Prospective ALL-SCT 2003 Trial

Author

Eichinger, Anna, primary, Glogova, Evgenia, additional, Poetschger, Ulrike, additional, Bader, Peter, additional, Basu, Oliver, additional, Beier, Rita, additional, Burkhardt, Birgit, additional, Classen, Carl-Friedrich, additional, Claviez, Alexander, additional, Corbacioglu, Selim, additional, Deubzer, Hedwig, additional, Greil, Johann, additional, Gruhn, Bernd, additional, Gungor, Tayfun, additional, Kafa, Kinan, additional, Lang, Peter, additional, Lange, Bjoern Soenke, additional, Mueller, Ingo, additional, Sauer, Martin G., additional, Schlegel, Paul-Gerhard, additional, Schulz, Ansgar, additional, Stachel, Klaus Daniel, additional, Strahm, Brigitte R., additional, Wawer, Angela, additional, Kühl, Jörn-Sven, additional, Meisel, Roland, additional, Peters, Christina, additional, and Albert, Michael H., additional

Published
2022
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8. Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs

Author

Hartmann, Linda, Neveling, Kornelia, Borkens, Stephanie, Schneider, Hildegard, Freund, Marcel, Grassman, Elke, Theiss, Stephan, Wawer, Angela, Burdach, Stefan, Auerbach, Arleen D., Schindler, Detlev, Hanenberg, Helmut, and Schaal, Heiner

Subjects
Fanconi's anemia -- Genetic aspects, Gene mutations -- Analysis, Messenger RNA -- Research, Biological sciences
Abstract

The clinical and molecular consequences of a splice-donor mutation in Fanconi anemia C (FANCC) gene in FA patients, which converts the canonical GT into a noncanonical TT dinucleotide, are reported. It is observed that correct mRNA processing at the cell site ameliorates the clinical phenotype in the patients, which is made possible by delivery of suppressor U1 snRNAs through the use of lentiviral vectors.

Published
2010

9. Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning

Author

Wustrau, Katharina, primary, Greil, Johann, additional, Sykora, Karl‐Walter, additional, Albert, Michael H., additional, Burkhardt, Birgit, additional, Lang, Peter, additional, Meisel, Roland, additional, Wössmann, Wilhelm, additional, Beier, Rita, additional, Schulz, Ansgar, additional, Bader, Peter, additional, Chada, Martin, additional, Kühl, Jörn‐Sven, additional, Schlegel, Paul‐Gerhardt, additional, Speckmann, Carsten, additional, Gruhn, Bernd, additional, Seidel, Markus, additional, Wawer, Angela, additional, Ozga, Ann‐Kathrin, additional, Janka, Gritta, additional, Ehl, Stephan, additional, Müller, Ingo, additional, and Lehmberg, Kai, additional

Published
2020
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11. 92 - Incidence of Secondary Malignancies after Total Body Irradiation-Based Allogeneic HSCT in Children with ALL – Long-Term Follow-up from the Prospective ALL-SCT 2003 Trial

Author

Eichinger, Anna, Glogova, Evgenia, Poetschger, Ulrike, Bader, Peter, Basu, Oliver, Beier, Rita, Burkhardt, Birgit, Classen, Carl-Friedrich, Claviez, Alexander, Corbacioglu, Selim, Deubzer, Hedwig, Greil, Johann, Gruhn, Bernd, Gungor, Tayfun, Kafa, Kinan, Lang, Peter, Lange, Bjoern Soenke, Mueller, Ingo, Sauer, Martin G., Schlegel, Paul-Gerhard, Schulz, Ansgar, Stachel, Klaus Daniel, Strahm, Brigitte R., Wawer, Angela, Kühl, Jörn-Sven, Meisel, Roland, Peters, Christina, and Albert, Michael H.

Published
2022
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12. Risk factors for mixed chimerism after stem cell transplantation with treosulfan or melphalan based conditioning regimens in children and adolescents with primary hemophagocytic lymphohistocytosis

Author

Wustrau, Katharina, Albert, Michael H., Bader, Peter, Beier, Rita, Burkhardt, Birgit, Chada, Martin, Greil, Johann, Gruhn, Bernd, Kühl, Jörn-Sven, Lang, Peter, Meisel, Roland, Schulz, Ansgar, Seidel, Markus, Sykora, Karl-Walter, Wawer, Angela, Wössmann, Wilhelm, Ozga, Ann-Kathrin, Ehl, Stephan, Müller, Ingo, and Lehmberg, Kai

Subjects
Medizin
Published
2018

13. Urine Proteomic Analysis Reveals Disease-Specific Patterns in Pediatric Patients with Classical Hodgkin's Disease(HD). an Addon Study to the Euronet-PHL-C2 Trial

Author

Sykora, Karl-Walter, primary, Metzger, Jochen, additional, Körholz, Dieter, additional, Frühwald, Michael, additional, Strauss, Gabriele, additional, Jorch, Norbert, additional, Zlocha, Jozef, additional, Wiesel, Thomas, additional, Sauerbrey, Axel, additional, Streiter, Monika, additional, Furtwaengler, Rhoikos, additional, Cario, Gunnar, additional, Simon, Thorsten, additional, Christiansen, Holger, additional, Vorwerk, Peter, additional, Wawer, Angela, additional, Scheurlen, Wolfram, additional, Müller, Hermann, additional, Bielack, Stefan, additional, Ebinger, Martin, additional, Debatin, Klaus-Michael, additional, Andres, Oliver, additional, Mauz-Körholz, Christine, additional, Troeger, Anja, additional, Schneider, Dominik, additional, and Weissinger, Eva M, additional

Published
2019
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15. Donor lymphocyte infusions in adolescents and young adults for control of advanced pediatric sarcoma

Author

Schober, Sebastian J, von Luettichau, Irene, Wawer, Angela, Steinhauser, Maximilian, Salat, Christoph, Schwinger, Wolfgang, Ussowicz, Marek, Antunovic, Petar, Castagna, Luca, Kolb, Hans-Jochem, Burdach, Stefan E G, Thiel, Uwe, Schober, Sebastian J, von Luettichau, Irene, Wawer, Angela, Steinhauser, Maximilian, Salat, Christoph, Schwinger, Wolfgang, Ussowicz, Marek, Antunovic, Petar, Castagna, Luca, Kolb, Hans-Jochem, Burdach, Stefan E G, and Thiel, Uwe

Abstract

Allogeneic stem cell transplantation (allo-SCT) and donor lymphocyte infusions (DLI) may induce a graft-versus-tumor effect in pediatric sarcoma patients. Here, we describe general feasibility, toxicity and efficacy of DLI after allo-SCT.

Published
2018
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17. Abstract A28: Donor lymphocyte infusion after allogeneic stem cell transplantation is a feasible therapy option with acceptable toxicity rates in patients with refractory Ewing’s sarcoma and rhabdomyosarcoma

Author

Schober, Sebastian J., primary, Steinhauser, Maximilian, additional, Wawer, Angela, additional, Luettichau, Irene Teichert-von, additional, Salat, Christoph, additional, Issels, Rolf D., additional, Schwinger, Wolfgang, additional, Ussowicz, Marek, additional, Antunovic, Petar, additional, Castagna, Luca, additional, Kolb, Hans-Jochem, additional, Burdach, Stefan E.G., additional, and Thiel, Uwe, additional

Published
2018
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18. Donor lymphocyte infusions in adolescents and young adults for control of advanced pediatric sarcoma

Author

Schober, Sebastian J., primary, von Luettichau, Irene, additional, Wawer, Angela, additional, Steinhauser, Maximilian, additional, Salat, Christoph, additional, Schwinger, Wolfgang, additional, Ussowicz, Marek, additional, Antunovic, Petar, additional, Castagna, Luca, additional, Kolb, Hans-Jochem, additional, Burdach, Stefan E.G., additional, and Thiel, Uwe, additional

Published
2018
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19. MECOM-associated syndrome: a heterogeneous inherited bone marrow failure syndrome with amegakaryocytic thrombocytopenia

Author

Germeshausen, Manuela, primary, Ancliff, Phil, additional, Estrada, Jaime, additional, Metzler, Markus, additional, Ponstingl, Eva, additional, Rütschle, Horst, additional, Schwabe, Dirk, additional, Scott, Richard H., additional, Unal, Sule, additional, Wawer, Angela, additional, Zeller, Bernward, additional, and Ballmaier, Matthias, additional

Published
2018
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20. Immune Thrombocytopenia in Two Unrelated Fanconi Anemia Patients â€' A Mere Coincidence?

Author

Karastaneva, Anna, Lanz, Sofia, Wawer, Angela, Behrends, Uta, Schindler, Detlev, Dietrich, Ralf, Burdach, Stefan, Urban, Christian, Benesch, Martin, and Seidel, Markus G.

Subjects
DNA repair defect, immune thrombocytopenia, hemic and lymphatic diseases, Fanconi anemia, FANCD2, Pediatrics, Perinatology and Child Health, Evans syndrome, Pediatrics, bone marrow failure syndrome, danazol, FANCA
Abstract

Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in congenital bone marrow failure syndromes, including FA. Here, we describe the clinical course of two independent FA patients with atypical – namely immune – thrombocytopenia. While in one patient belonging to complementation group FA-A, the ITP started at 17 months of age and showed a chronically persisting course with severe purpura, responding well to intravenous immunoglobulins (IVIG) and later also danazol, a synthetic androgen, the other patient (of complementation group FA-D2) had a self-limiting course that resolved after one administration of IVIG. No cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital bone marrow failure/tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed.

Published
2015
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21. Immune thrombocytopenia in two unrelated Fanconi anemia patients - a mere coincidence?

Author

Karastaneva, Anna, Lanz, Sofia, Wawer, Angela, Behrends, Uta, Schindler, Detlev, Dietrich, Ralf, Burdach, Stefan, Urban, Christian, Benesch, Martin, and Seidel, Markus G.

Subjects
DNA repair defect, immune thrombocytopenia, Fanconi anemia, FANCD2, hemic and lymphatic diseases, Evans syndrome, ddc:610, Pediatrics, bone marrow failure syndrome, danazol, Original Research, FANCA
Abstract

Thrombocytopenia and pancytopenia, occurring in patients with Fanconi anemia (FA), are interpreted either as progression to bone marrow failure or as developing myelodysplasia. On the other hand, immune thrombocytopenia (ITP) represents an acquired and often self-limiting benign hematologic disorder, associated with peripheral, immune-mediated, platelet destruction requiring different management modalities than those used in congenital bone marrow failure syndromes, including FA. Here, we describe the clinical course of two independent FA patients with atypical - namely immune - thrombocytopenia. While in one patient belonging to complementation group FA-A, the ITP started at 17 months of age and showed a chronically persisting course with severe purpura, responding well to intravenous immunoglobulins (IVIG) and later also danazol, a synthetic androgen, the other patient (of complementation group FA-D2) had a self-limiting course that resolved after one administration of IVIG. No cytogenetic aberrations or bone marrow abnormalities other than FA-typical mild dysplasia were detected. Our data show that acute and chronic ITP may occur in FA patients and impose individual diagnostic and therapeutic challenges in this rare congenital bone marrow failure/tumor predisposition syndrome. The management and a potential context of immune pathogenesis with the underlying marrow disorder are discussed.

Published
2015

22. Bone marrow involvement identifies a subgroup of advanced Ewing sarcoma patients with fatal outcome irrespective of therapy in contrast to curable patients with multiple bone metastases but unaffected marrow

Author

Thiel, Uwe, Wawer, Angela, Teichert- von Lüttichau, Irene, Bender, Hans-Ulrich, Blaeschke, Franziska, Grunewald, Thomas G. P., Steinborn, Marc, Röper, Barbara, Bönig, Halvard-Björn, Klingebiel, Thomas, Bader, Peter, Koscielniak, Ewa, Paulussen, Michael, Dirksen, Uta, Jürgens, Heribert, Kolb, Hans-Jochem, Burdach, Stefan, Thiel, Uwe, Wawer, Angela, Teichert- von Lüttichau, Irene, Bender, Hans-Ulrich, Blaeschke, Franziska, Grunewald, Thomas G. P., Steinborn, Marc, Röper, Barbara, Bönig, Halvard-Björn, Klingebiel, Thomas, Bader, Peter, Koscielniak, Ewa, Paulussen, Michael, Dirksen, Uta, Jürgens, Heribert, Kolb, Hans-Jochem, and Burdach, Stefan

Abstract

Purpose: Advanced Ewing sarcomas have poor prognosis. They are defined by early relapse (<24 months after diagnosis) and/or by metastasis to multiple bones or bone marrow (BM). We analyzed risk factors, toxicity and survival in advanced Ewing sarcoma patients treated with the MetaEICESS vs. EICESS92 protocols. Design: Of 44 patients, 18 patients were enrolled into two subsequent MetaEICESS protocols between 1992 and 2014, and compared to outcomes of 26 advanced Ewing sarcoma patients treated with EICESS 1992 between 1992 and 1996. MetaEICESS 1992 consisted of induction chemotherapy, whole body imaging directed radiotherapy to the primary tumor and metastases, tandem high-dose chemotherapy and autologous rescue. In MetaEICESS 2007 this treatment was complemented by allogeneic stem cell transplantation. EICESS 1992 comprised induction chemotherapy, local therapy to the primary tumor only followed by consolidation chemotherapy. Results: In MetaEICESS 8/18 patients survived in complete remission vs. 2/26 in EICESS 1992 (p<0.05). Survival did not differ between MetaEICESS 2007 and MetaEICESS 1992. Three MetaEICESS patients died of complications, all in MetaEICESS 1992. After exclusion of patients succumbing to treatment related complications (n=3), 7/10 patients survived without BM involvement, in contrast to 0/5 patients with BM involvement. This was confirmed in a multivariate analysis. There was no correlation between BM involvement and the number of metastases at diagnosis. Conclusion: The MetaEICESS protocols yield long-term disease-free survival in patients with advanced Ewing sarcoma. Allogeneic stem cell transplantation was not associated with increased death of complications. Bone marrow involvement is a risk factor distinct from multiple bone metastases.

Published
2016

23. Bone marrow involvement identifies a subgroup of advanced Ewing sarcoma patients with fatal outcome irrespective of therapy in contrast to curable patients with multiple bone metastases but unaffected marrow

Author

Thiel, Uwe, primary, Wawer, Angela, additional, von Luettichau, Irene, additional, Bender, Hans-Ulrich, additional, Blaeschke, Franziska, additional, Grunewald, Thomas G.P., additional, Steinborn, Marc, additional, Röper, Barbara, additional, Bonig, Halvard, additional, Klingebiel, Thomas, additional, Bader, Peter, additional, Koscielniak, Ewa, additional, Paulussen, Michael, additional, Dirksen, Uta, additional, Juergens, Heribert, additional, Kolb, Hans-Jochem, additional, and Burdach, Stefan E.G., additional

Published
2016
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24. Stem cell rescue from irradiation of multiple tumor sites combined with high-dose chemotherapy, followed by reduced intensity conditioning and allogeneic stem cell transplantation in patients with advanced pediatric sarcomas: Preliminary results of the MetaEICESS 2007 protocol.

Author

Burdach, Stefan, primary, Thiel, Uwe, additional, Wawer, Angela, additional, Teichert von Luettichau, Irene, additional, Blaeschke, Franziska, additional, Grunewald, Thomas GP, additional, Steinborn, Marc, additional, Roeper, Barbara, additional, Molls, Michael, additional, Salat, Christoph, additional, Klingebiel, Thomas, additional, Bader, Peter, additional, Koscielniak, Ewa, additional, Lang, Peter, additional, Dirksen, Uta, additional, Jurgens, Heribert, additional, and Kolb, Hans-Jochem, additional

Published
2015
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25. Sclerosing Epithelioid Fibrosarcoma of the Bone: A Case Report of High Resistance to Chemotherapy and a Survey of the Literature

Author

Grunewald, Thomas G. P., von Luettichau, Irene, Weirich, Gregor, Wawer, Angela, Behrends, Uta, Prodinger, Peter M., Jundt, Gernot, Bielack, Stefan S., Gradinger, Reiner, and Burdach, Stefan

Subjects
Article Subject
Abstract

Sclerosing epithelioid fibrosarcoma (SEF) is a rare soft tissue sarcoma mostly occurring in extraosseous sites. SEF represents a clinically challenging entity especially because no standardized treatment regimens are available. Intraosseous localization is an additional challenge with respect to the therapeutical approach. We report on a 16-year-old patient with SEF of the right proximal tibia. The patient underwent standardized neoadjuvant chemotherapy analogous to the EURAMOS-1 protocol for the treatment of osteosarcoma followed by tumor resection and endoprosthetic reconstruction. Histopathological analysis of the resected tumor showed >90% vital tumor cells suggesting no response to chemotherapy. Therefore, therapy was reassigned to the CWS 2002 High-Risk protocol for the treatment of soft tissue sarcoma. To date (22 months after diagnosis), there is no evidence of relapse or metastasis. Our data suggest that SEF may be resistant to a chemotherapy regimen containing Cisplatin, Doxorubicin, and Methotrexate, which should be considered in planning treatment for patients with SEF.

Published
2010
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26. Stem cell rescue from irradiation of multifocal bone disease combined with high-dose chemotherapy and reduced intensity conditioned haplodisparate stem cell transplantation in advanced pediatric sarcomas: Update of MetaEICESS 2007.

Author

Burdach, Stefan, primary, Thiel, Uwe, additional, Wawer, Angela, additional, Teichert von Luettichau, Irene, additional, Kolb, Hans-Jochem, additional, Steinborn, Marc, additional, Roeper, Barbara, additional, Klingebiel, Thomas, additional, Koscielniak, Ewa, additional, Dirksen, Uta, additional, and Juergens, Herbert, additional

Published
2014
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27. Distinct mutations in STXBP2are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Author

Pagel, Julia, Beutel, Karin, Lehmberg, Kai, Koch, Florian, Maul-Pavicic, Andrea, Rohlfs, Anna-Katharina, Al-Jefri, Abdullah, Beier, Rita, Bomme Ousager, Lilian, Ehlert, Karoline, Gross-Wieltsch, Ute, Jorch, Norbert, Kremens, Bernhard, Pekrun, Arnulf, Sparber-Sauer, Monika, Mejstrikova, Ester, Wawer, Angela, Ehl, Stephan, zur Stadt, Udo, and Janka, Gritta

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically determined hyperinflammatory syndrome caused by uncontrolled immune response mediated by T-lymphocytes, natural killer (NK) cells, and macrophages. STXBP2mutations have recently been associated with FHL5. To better characterize the genetic and clinical spectrum of FHL5, we analyzed a cohort of 185 patients with suspected FHL for mutations in STXBP2. We detected biallelic mutations in 37 patients from 28 families of various ethnic origins. Missense mutations and mutations affecting 1 of the exon 15 splice sites were the predominant changes detectable in this cohort. Patients with exon 15 splice-site mutations (n = 13) developed clinical manifestations significantly later than patients with other mutations (median age, 4.1 year vs 2 months) and showed less severe impairment of degranulation and cytotoxic function of NK cells and CTLs. Patients with FHL5 showed several atypical features, including sensorineural hearing deficit, abnormal bleeding, and, most frequently, severe diarrhea that was only present in early-onset disease. In conclusion, we report the largest cohort of patients with FHL5 so far, describe an extended disease spectrum, and demonstrate for the first time a clear genotype-phenotype correlation.

Published
2012
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28. TERC mutations in children with refractory cytopenia.

Author

Ortmann CA, Niemeyer CM, Wawer A, Ebell W, Baumann I, and Kratz CP

Subjects
Adolescent, Anemia, Aplastic etiology, Anemia, Aplastic genetics, Blood Transfusion, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Dyskeratosis Congenita genetics, Fatal Outcome, Female, Genes, Dominant, Hematopoietic Stem Cell Transplantation, Humans, Infant, Male, Myelodysplastic Syndromes complications, Myelodysplastic Syndromes therapy, Thrombocytopenia etiology, Thrombocytopenia genetics, Myelodysplastic Syndromes genetics, Point Mutation, RNA genetics, Telomerase genetics
Abstract

Mutations in the human telomerase RNA gene (TERC) cause autosomal dominant dyskeratosis congenita and have been detected in individuals with bone marrow failure. Here, we screened for TERC mutations in a cohort of 80 children with hypocellular myelodysplastic syndrome and detected TERC alterations in two of them.

Published
2006

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