Studienliteratur zu Myelodysplastischen Syndrom (MDS) und zur juvenilen myelomonozytären Leukämie (JMML)

Literatur aus den Studien zum MDS und zur JMML

Zuletzt geändert: 29.04.2026 https://kinderkrebsinfo.de/doi/e123828

Studienliteratur EWOG-MDS

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  1. Andresen F, Yoshimi A, Bader P, Bierings M, Bod'ová I, Bordon V, Buechner J, Burkhardt B, Dworzak M, Erlacher M, Kállay K, Labarque V, Locatelli F, Malone A, Masmas T, Müller I, Nöllke P, Schmugge M, Pawelec K, Sedlacek P, Sevilla J, Smith O, Stary J, Niemeyer C, Strahm B: Comparable outcomes of HSCT up-front and after failure of IST in pediatric aplastic anemia in recent years. Blood advances 2026, 10: 1992 [PMID: 41558034] AND2026
  2. Tanriver U, Geppert M, Filges I, Menter T, Schmugge M, Güngör T, Gengler C, Strahm B, Erlacher M, Diesch-Furlanetto T, von der Weid N, Schifferli A: Managing High-Risk PTPN11-Mutated Juvenile Myelomonocytic Leukemia in a Patient with SETBP1 Mosaicism. Pediatric blood & cancer 2025, 72:e31491 [PMID: 39690457] TAN2025
  3. Toskov V, Werner D, Furlan I, Erlacher M, Friedrich C, Schulz A, Reimann C, Madadi-Sanjani O, Radner M, Benckendorff J, Schwarz-Furlan S, Beier R, Ehl S, Strahm B, Yoshimi A: Aplastic Anemia as a Rare Manifestation of SAP Deficiency. Pediatric blood & cancer 2025, 72:e31625 [PMID: 39994840] TOS2025
  4. Ghanjati F, Heck A, Lebrecht D, Nöllke P, Andresen F, Rotari N, Schoof M, Schönung M, Lipka DB, Dworzak M, De Moerloose B, Sukova M, Hasle H, Jahnukainen K, Malone A, Masetti R, Buechner J, Ussowicz M, Catala A, Turkiewicz D, de Haas V, Schmugge M, Erlacher M, Niemeyer CM, Flotho C: Epigenetic risk stratification in juvenile myelomonocytic leukemia by targeted methylation analysis of the BMP4 locus. Clinical epigenetics 2025, 17: 154 [PMID: 41044657] GHA2025
  5. Locatelli F, Strålin KB, Schmid I, Sevilla J, Smith OP, van den Heuvel-Eibrink MM, Zecca M, Zwaan CM, Gaudy A, Patturajan M, Poon J, Simcock M, Niemeyer CM: Efficacy and safety of azacitidine in pediatric patients with newly diagnosed advanced myelodysplastic syndromes before hematopoietic stem cell transplantation in the AZA-JMML-001 trial. Pediatric blood & cancer 2024, 71:e30931 [PMID: 38433307] LOC2024
  6. Schreiber F, Piontek G, Schneider-Kimoto Y, Schwarz-Furlan S, De Vito R, Locatelli F, Gengler C, Yoshimi A, Jung A, Klauschen F, Niemeyer CM, Erlacher M, Rudelius M: Development of MDS in Pediatric Patients with GATA2 Deficiency: Increased Histone Trimethylation and Deregulated Apoptosis as Potential Drivers of Transformation. Cancers 2023, 15 [PMID: 38067298] SCH2023b
  7. Rudelius M, Weinberg OK, Niemeyer CM, Shimamura A, Calvo KR: The International Consensus Classification (ICC) of hematologic neoplasms with germline predisposition, pediatric myelodysplastic syndrome, and juvenile myelomonocytic leukemia. Virchows Archiv : an international journal of pathology 2023, 482: 113 [PMID: 36445482] RUD2023
  8. Niemeyer CM, Flotho C, Lipka DB, Starý J, Rössig C, Baruchel A, Klingebiel T, Micalizzi C, Michel G, Nysom K, Rives S, Schmugge Liner M, Zecca M, Schönung M, Baumann I, Nöllke P, Benettaib B, Biserna N, Poon J, Simcock M, Patturajan M, Menezes D, Gaudy A, van den Heuvel-Eibrink MM, Locatelli F: Response to upfront azacitidine in juvenile myelomonocytic leukemia in the AZA-JMML-001 trial. Blood advances 2021 Jul 27; 5: 2901 [PMID: 34297046] NIE2021
  9. Mayerhofer C, Niemeyer CM, Flotho C: Current Treatment of Juvenile Myelomonocytic Leukemia. Journal of clinical medicine 2021 Jul 13; 10 [PMID: 34300250] MAY2021
  10. Bortnick R, Wlodarski M, de Haas V, De Moerloose B, Dworzak M, Hasle H, Masetti R, Starý J, Turkiewicz D, Ussowicz M, Kozyra E, Albert M, Bader P, Bordon V, Cario G, Beier R, Schulte J, Bresters D, Müller I, Pichler H, Sedlacek P, Sauer MG, Zecca M, Göhring G, Yoshimi A, Noellke P, Erlacher M, Locatelli F, Niemeyer CM, Strahm B, for EWOG-MDS: Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome. Bone marrow transplantation 2021, E-pub ahead of printg [PMID: 34244664] BOR2021
  11. Niemeyer C, Kratz C: Myelodysplastische Syndrome. in Niemeyer C, Eggert A (Hrsg): Pädiatrische Onkologie und Hämatologie 2018, Springer Verlag; 715 [ISBN: 978-3-662-43685-1] NIE2018a
  12. Wlodarski MW, Niemeyer CM: Introduction: Genetic syndromes predisposing to myeloid neoplasia. Seminars in hematology 2017, 54: 57 [PMID: 28637617] WLO2017
  13. Göhring G, Thomay K, Schmidt G, Ripperger T, Xu M, Wittner N, Chao MM, Baumann I, Niewisch M, Reinhardt D, Klingebiel T, Thol F, Schlegelberger B, Niemeyer CM: A common ancestral DNMT3A-mutated preleukemic clone giving rise to AML and MDS in an adolescent girl. Leukemia & lymphoma 2017, 58: 718 [PMID: 27892742] GOE2017
  14. Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, Ruzaike G, Lebrecht D, Yoshimi A, Niewisch M, Ripperger T, Göhring G, Baumann I, Schwarz S, Strahm B, Flotho C, Skoda RC, Niemeyer CM, Wlodarski MW: Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia 2016, epub ahead of print [PMID: 27876779] PAS2016
  15. Pastor V, Hirabayashi S, Karow A, Wehrle J, Kozyra EJ, Nienhold R, Ruzaike G, Lebrecht D, Yoshimi A, Niewisch M, Ripperger T, Göhring G, Baumann I, Schwarz S, Strahm B, Flotho C, Skoda RC, Niemeyer CM, Wlodarski MW: Mutational landscape in children with myelodysplastic syndromes is distinct from adults: specific somatic drivers and novel germline variants. Leukemia 2016, epub ahead of print [PMID: 27876779] PAS2016
  16. Niemeyer CM, Loh ML, Cseh A, Cooper T, Dvorak CC, Chan R, Xicoy B, Germing U, Kojima S, Manabe A, Dworzak M, De Moerloose B, Starý J, Smith OP, Masetti R, Catala A, Bergstraesser E, Ussowicz M, Fabri O, Baruchel A, Cavé H, Zwaan M, Locatelli F, Hasle H, van den Heuvel-Eibrink MM, Flotho C, Yoshimi A: Criteria for evaluating response and outcome in clinical trials for children with juvenile myelomonocytic leukemia. Haematologica 2015, 100: 17 [PMID: 25552679] NIE2015
  17. Yoshimi A, Strahm B, Baumann I, Furlan I, Schwarz S, Teigler-Schlegel A, Walther JU, Schlegelberger B, Göhring G, Nöllke P, Führer M, Niemeyer CM: Hematopoietic stem cell transplantation in children and young adults with secondary myelodysplastic syndrome and acute myelogenous leukemia after aplastic anemia. Biology of blood and marrow transplantation 2014, 20: 425 [PMID: 24316460] YOS2014
  18. Flotho C, Vraetz T, Lang P, Niemeyer CM, Strahm B: Successful double umbilical cord blood transplantation for relapsed juvenile myelomonocytic leukemia. Leukemia 2013, 27: 988 [PMID: 23000834] FLO2013
  19. Strahm B, Nöllke P, Zecca M, Korthof ET, Bierings M, Furlan I, Sedlacek P, Chybicka A, Schmugge M, Bordon V, Peters C, O'Marcaigh A, de Heredia CD, Bergstraesser E, Moerloose BD, van den Heuvel-Eibrink MM, Starý J, Trebo M, Wojcik D, Niemeyer CM, Locatelli F, EWOG-MDS study group: Hematopoietic stem cell transplantation for advanced myelodysplastic syndrome in children: results of the EWOG-MDS 98 study. Leukemia 2011, 25: 455 [PMID: 21212791] STR2011
  20. Hasle H, Niemeyer CM: Advances in the prognostication and management of advanced MDS in children. Br J Haematol 2011, 154: 185 [PMID: 21554264] HAS2011
  21. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, Kropshofer G, Corbacioglu S, Lang PJ, Klein C, Schlegel PG, Heinzmann A, Schneider M, Starý J, van den Heuvel-Eibrink MM, Hasle H, Locatelli F, Sakai D, Archambeault S, Chen L, Russell RC, Sybingco SS, Ohh M, Braun BS, Flotho C, Loh ML: Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 2010, 42: 794 [PMID: 20694012] NIE2010a
  22. Karow A, Baumann I, Niemeyer CM: Morphologic differential diagnosis of juvenile myelomonocytic leukemia--pitfalls apart from viral infection. Journal of pediatric hematology/oncology 2009, 31: 380 [PMID: 19415027] KAR2009a
  23. de Vries AC, Bredius RG, Lankester AC, Bierings M, Trebo M, Sedlacek P, Niemeyer CM, Zecca M, Locatelli F, van den Heuvel-Eibrink MM: HLA-identical umbilical cord blood transplantation from a sibling donor in juvenile myelomonocytic leukemia. Haematologica 2009, 94: 302 [PMID: 19109215] VRI2009
  24. Furlan I, Batz C, Flotho C, Mohr B, Lübbert M, Suttorp M, Niemeyer CM: Intriguing response to azacitidine in a patient with juvenile myelomonocytic leukemia and monosomy 7. Blood 2009, 113: 2867 [PMID: 19299654] FUR2009
  25. Loh ML, Sakai DS, Flotho C, Kang M, Fliegauf M, Archambeault S, Mullighan CG, Chen L, Bergstraesser E, Bueso-Ramos CE, Emanuel PD, Hasle H, Issa JP, van den Heuvel-Eibrink MM, Locatelli F, Stary J, Trebo M, Wlodarski M, Zecca M, Shannon KM, Niemeyer CM: Mutations in CBL occur frequently in juvenile myelomonocytic leukemia. Blood 2009, 114: 1859 [PMID: 19571318] LOH2009
  26. Germing U, Aul C, Niemeyer CM, Haas R, Bennett JM: Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes. Annals of hematology 2008, 87: 691 [PMID: 18575866] GER2008a
  27. Yoshimi A, Niemeyer CM, Bohmer V, Duffner U, Strahm B, Kreyenberg H, Dilloo D, Zintl F, Claviez A, Wossmann W, Kremens B, Holter W, Niethammer D, Beck JF, Kontny U, Nollke P, Klingebiel T, Bader P: Chimaerism analyses and subsequent immunological intervention after stem cell transplantation in patients with juvenile myelomonocytic leukaemia. British journal of haematology 2005, 129: 542 [PMID: 15877738] YOS2005a
  28. Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergstrasser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, Loh ML: The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. Blood 2005, 106: 2183 [PMID: 15928039] KRA2005a
  29. Yoshimi A, Bader P, Matthes-Martin S, Stary J, Sedlacek P, Duffner U, Klingebiel T, Dilloo D, Holter W, Zintl F, Kremens B, Sykora KW, Urban C, Hasle H, Korthof E, Revesz T, Fischer A, Nollke P, Locatelli F, Niemeyer CM, European Working Group of MDS in Childhood (EWOG-MDS): Donor leukocyte infusion after hematopoietic stem cell transplantation in patients with juvenile myelomonocytic leukemia. Leukemia 2005, 19: 971 [PMID: 15800672] YOS2005
  30. Locatelli F, Nollke P, Zecca M, Korthof E, Lanino E, Peters C, Pession A, Kabisch H, Uderzo C, Bonfim CS, Bader P, Dilloo D, Stary J, Fischer A, Revesz T, Fuhrer M, Hasle H, Trebo M, van den Heuvel-Eibrink MM, Fenu S, Strahm B, Giorgiani G, Bonora MR, Duffner U, Niemeyer CM, European Working Group on Childhood MDS, European Blood and Marrow Transplantation Group: Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial. Blood 2005, 105: 410 [PMID: 15353481] LOC2005
  31. Kratz CP, Rogge T, Kopp M, Baumann I, Niemeyer CM: Myelodysplastic features in an infant with cystic fibrosis presenting with anaemia, oedema and failure to thrive. European journal of pediatrics 2005, 164: 56 [PMID: 15517378] KRA2005
  32. Cantu Rajnoldi A, Fenu S, Kerndrup G, van Wering ER, Niemeyer CM, Baumann I, European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS): Evaluation of dysplastic features in myelodysplastic syndromes: experience from the morphology group of the European Working Group of MDS in Childhood (EWOG-MDS). Annals of hematology 2005, 84: 429 [PMID: 15838669] CAN2005
  33. Bader P, Niemeyer C, Willasch A, Kreyenberg H, Strahm B, Kremens B, Gruhn B, Dilloo D, Vormoor J, Lang P, Niethammer D, Klingebiel T, Beck JF: Children with myelodysplastic syndrome (MDS) and increasing mixed chimaerism after allogeneic stem cell transplantation have a poor outcome which can be improved by pre-emptive immunotherapy. British journal of haematology 2005, 128: 649 [PMID: 15725087] BAD2005
  34. Bader P, Niemeyer C, Weber G, Coliva T, Rossi V, Kreyenberg H, Gerecke A, Biondi A: WT1 gene expression: useful marker for minimal residual disease in childhood myelodysplastic syndromes and juvenile myelo-monocytic leukemia? European journal of haematology 2004, 73: 25 [PMID: 15182334] BAD2004c
  35. Hasle H, Baumann I, Bergstrasser E, Fenu S, Fischer A, Kardos G, Kerndrup G, Locatelli F, Rogge T, Schultz KR, Stary J, Trebo M, van den Heuvel-Eibrink MM, Harbott J, Nollke P, Niemeyer CM, European Working Group on childhood MDS: The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). Leukemia 2004, 18: 2008 [PMID: 15496981] HAS2004
  36. Dolman KM, Revesz T, Niemeyer CM, van Wering ER, de Saint Basile G, Canninga M, Bierings MB, Wulffraat NM: Myelodysplastic features in Griscelli syndrome. Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology 2004, 26: 275 [PMID: 15111776] DOL2004
  37. Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, Head DR: A pediatric approach to the WHO classification of myelodysplastic and myeloproliferative diseases. Leukemia 2003, 17: 277 [PMID: 12592323] HAS2003a
  38. Hammerle K, Shayan P, Niemeyer CM, Flotho C: Expression analysis of alpha-NAC and ANX2 in juvenile myelomonocytic leukemia using SMART polymerase chain reaction and. Cancer genetics and cytogenetics 2003, 142: 149 [PMID: 12699894] HAM2003
  39. Bader P, Stoll K, Huber S, Geiselhart A, Handgretinger R, Niemeyer C, Einsele H, Schlegel PG, Niethammer D, Beck J, Klingebiel T: Characterization of lineage-specific chimaerism in patients with acute leukaemia and myelodysplastic syndrome after allogeneic stem cell transplantation before and after relapse. British journal of haematology 2000, 108: 761 [PMID: 10792281] BAD2000