2. Do Gata2 dynamics and levels matter during hematopoietic (stem cell, progenitor or other) development?
C.S. Vink1, A. Popravko1, C. Eich1, A. Maglitto1, F.J. Calero-Nieto2, W. Jawaid2, X. Wang2, S.A. Mariani1, B. Göttgens2, E. Dzierzak1
1Centre for Inflammation Research, Queen’s Medical Research Institute, The University of Edinburgh, UK; 2Department of Haematology, Cambridge Institute for Medical Research, Wellcome Trust-MRC Cambridge Stem Cell Institute, University of Cambridge, UK
4. Hematopoietic Stem Cell Transplantation in Children and Adolescents with GATA2-Related Myelodysplastic Syndrome
R. Bortnick1,23, M. Wlodarski1,2, V. de Haas3, B. De Moerloose4, M. Dworzak5, H. Hasle6, R. Masetti7, J. Starý8, D. Turkiewicz9, M. Ussowicz10, E. Kozyra1, M. Albert11, P. Bader12, V. Bordon4, G. Cario13, R. Beier14, J. Schulte15, D. Bresters16, I. Müller17, H. Pichler5, P Sedlacek8, M. G Sauer18, Marco Zecca19, G. Göhring20, .A. Yoshimi1, P. Noellke1, M. Erlacher1,21, F. Locatelli22, C.M.Niemeyer1,21, B. Strahm1 for EWOG-MDS
1Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; 2Department of Hematology, St. Jude Children’s Research Hospital, Memphis, TN, USA; 3Princess Maxima Center, Diagnostic Laboratory / DCOG Laboratory, Utrecht, The Netherlands; 4Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium; 5Department of Pediatrics, St. Anna Children’s Hospital, Medical University of Vienna, Vienna, Austria; 6Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark; 7Department of Pediatric Oncology and Hematology, University of Bologna, Bologna, Italy; 8Department of Pediatric Hematology and Oncology, Charles University and University Hospital Motol, Prague, Czech Republic; 9Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden; 10Department of Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland ;11Department of Pediatrics, Dr. von Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany; 12Department for Children and Adolescents, Division for Stem Cell Transplantation and Immunology, University Hospital Frankfurt, Frankfurt am Main, Germany; 13Department of Pediatrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein, Kiel, Germany; 14Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, University Hospital of Essen, Essen, Germany; 15Department of Pediatric Oncology, Hematology and Stem Cell Transplantation, Charité University Medicine Berlin, Berlin, Germany; 16Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands; 17Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 18Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany; 19Pediatric Hematology/Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; 20Department of Human Genetics, Hannover Medical School, Hannover, Germany; 21German Cancer Consortium (DKTK), Heidelberg and Freiburg, Germany; 22Department of Pediatric Hematology and Oncology, IRCCS Ospedale Pediatrico Bambino Gesù, Sapienza, University of Rome, Rome, Italy; 23Current affiliation: Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria
5. Clinical Characteristics, genomic landscape and functional studies of GATA2 deficiency in a cohort of Spanish patients
D. Romero-Moya1, J. Castaño2, F. De Giorgio1, F. Lessi3, P. Aretini3, C.M. Mazzanti3, L. Mularoni1, M. Di Stefano4, A. Liquori5, J. Gonzalez6, E.J. Kozyra7, A. Catalá4, J.C. Rodriguez-Gallego8, J. Nomdedeu9, C. Díaz de Heredia10, A. Perez Martinez11, A. Escudero-Lopez12, F. López Cadenas13, M. Díez-Campelo13, T. Gonzalez13, C. Martínez-Laperche14, N. Dorado14, F. Marco15, J. Cervera5, C. Bodor16, M. Wlodarski17, A. Bigas6, A Giorgetti1, Grupo Español de Síndromes Mielodispásticos (GESMD)
1Clinical Translational Program for Regenerative Medicine in Catalonia, Bellvitge Biomedical Research lnstitute (IDIBELL), L’hospitalet De Llobregat, Spain; 2Cellular and Advanced Therapy Unit, Banc de Sang i Teixits, Barcelona, Spain; 3Fondazione Pisana Per La Scienza ONLUS, Pisa, Italy; 4Servicio de Hematologia y Oncologia, Hospital Sant Joan de Deu, Barcelona, Spain; 5Hospital Universitari i Politècnic La Fe, Valencia, Spain; 6Cancer Research Program, Instituto Hospital del Mar de Investigaciones Médicas, Barcelona, Spain; 7University Childrens Hospital Freiburg, Freiburg, Germany; 8Servicio de Inmunología, Hospital Universitario de Gran Canaria Dr. Negrín, Las Palmas, Spain; 9Hematology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autónoma de Barcelona, Barcelona, Spain; 10Pediatric Oncology and Hematology Department, Hospital Universitari Vall d’Hebron , Barcelona, Spain; 11Hospital Infantil Universitario Niño Jesús, Madrid, Spain; 12Molecular Pediatric Oncology Unit, Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain; 13Departamento de Hematología, Hospital Clínico Universitario de Salamanca, Salamanca, Spain; 14Gregorio Marañón Health Research Insitute (IiSGM), Madrid, Spain; 15Biotechnología, Universidad de Alicante, Alicante, Spain; 16Department of Pathology and Cancer Research, Semmelweis University, Budapest, Hungary; 17Department of Hematology, St. Jude Children’s Research Hospital, Memphis, USA
Correspondence: D. Romero-Moya
7. Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome
S. Barzilai-birenboim, A. Yanir, A. Krauss, J. Stein, O. Steinberg, S.O. Gilad, S. Noy Lotan, O. Dgany, T. Krasnov, Y. Kodman, T. Feuerstein, J. Mardoukh, H. Fishman, I. Geron, Dr Joanne Yacobovich, S.Barzilai-Birenboim, Yehudit, S Izraeli
Schneider Children’s Medical Center Of Israel, Petah-Tikva, Israel
Correspondence: A.Yanir
9. Germline SAMD9L Triple-Allelic Mosaicism with Independent Segregation into Biallelic Offsprings: Molecular Support for Non-Mendelian Inheritance
S. Sahoo1, C.Goodings1, M. Angeles Lillo1, T.Lammens2, J. van der Werff ten Bosch3, B.Strahm4, B. De Moerloose2, M.Wlodarski1
1Department of Hematology, St. Jude Children’s Research Hospital, Memphis, United States; 2Department of Paediatric Haematology-Oncology, Ghent University Hospital, , Belgium; 3Department of Pediatric Hematology Oncology, University Hospital Brussel, , Belgium; 4Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Germany
Correspondence: S. Sahoo
11. Cellular and metabolic characteristics of pre-leukemic hematopoietic progenitors with GATA2 haploinsuficiency
A. Rein1,2,3, I. Geron1,2,3,14, E. Kugler1,2,3, H. Fishman1,2,3, E. Gottlieb4, I. Abramovich4, A. Giladi5, I. Amit5, R. Mulet- Lazaro6, R. Delwel6,7, S. Gröschel6,8,9, S.Levin-Zaidman10, N. Dezorella10, V. Holdengreber11, T. Nageswara Rao12, J. Yacobovich2, O. Steinberg-Shemer2,14, Q.-H. Huang13, Y.Tan13, S.-J. Chen13, S. Izraeli1,2,3,14 and Y. Birger1,2,3,14
1Department of Human Molecular Genetics and Biochemistry, Sackler Medical School, Tel Aviv University, Tel Aviv 69978, Israel; 2The Rina Zaizov Division of Pediatric Hematology-Oncology, Schneider Children’s Medical Center, Petah Tikva; Israel; 3Functional Genomics and Childhood Leukaemia Research, Sheba Medical Centre, Tel-Hashomer, Israel; 4Technion Integrated Cancer Center, Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel; 5Department of Immunology, Weizmann Institute of Science, Rehovot, Israel; 6Department of Hematology, Erasmus University Medical Center, Rotterdam, 3015 GE, the Netherlands; 7Oncode Institute, Erasmus University Medical Center, Rotterdam, the Netherlands; 8Molecular Leukemogenesis, Deutsches Krebsforschungszentrum, 69120 Heidelberg, Germany; 9Department of Internal Medicine V, Heidelberg University Hospital, Heidelberg, Germany; 10Electron Microscopy Unit, Weizmann Institute of Science, Rehovot, Israel; 11Electron Microscopy Unit, IDRFU, Faculty of Life Sciences, Tel Aviv University, Israel; 12Stem Cells and Leukemia Laboratory, University Clinic of Hematology & Central Hematology, Department of Biomedical Research (DBMR), Inselspital Bern, University of Bern, Switzerland; 13State Key Laboratory of Medical Genomics, Shanghai Institute of Hematology, Rui Jin Hospital, Jiao Tong University School of Medicine, Shanghai 200025, China; 14Felsenstein Medical Research Center, Sackler School of Medicine Tel-Aviv University, Petah Tikva; Israel
12. Germline GATA2 mutations in familial MDS/AML: a manually curated online registry from the ERAPERMED GATA2-HuMo international consortium
L. Kotmayer1, E. Kozyra2, A. Bekő1, T. László1, A. Bigas3, A. Giorgetti4, K. Kállay5, M. Wlodarski2,6, C. Bödör1
1HCEMM-SE Molecular Oncohematology Research Group, 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary; 2Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany; 3Cancer Research Program, Institut Hospital del Mar d’Investigacions Mèdiques, CIBERONC, Hospital del Mar, Barcelona, Spain; 4Regenerative Medicine Program, Bellvitge Institute for Biomedical Research (IDIBELL) and Program for Clinical Translation of Regenerative Medicine in Catalonia (P-CMRC), 08908 L’Hospitalet del Llobregat, Spain; 5Pediatric Hematology and Stem Cell Transplantation Department, Central Hospital of Southern Pest – National Institute of Hematology and Infectious Diseases; 6Department of Hematology, St. Jude Children’s Research Hospital, Memphis, USA
13. Leukemogenesis in GATA2 haploinsufficient mice is a secondary event after bone marrow failure
J. Fernandez-Orth1, J.M. Weiss1, G. Andrieux2, V.R. Mittapalli1, S. Bohler1, C. Molnar1, C. Frank1, I. Gonzalez-Mendez3, B. Strahm1, D. Steinemann4, L. Quintanilla-Martinez3, M. Börries2, C. Niemeyer1 and M. Erlacher1
1University Medical Center Freiburg, Center for Pediatrics Department of Pediatric Hematology and Oncology, Freiburg, Germany; 2Institut für Medizinische Bioinformatik und Systemmedizin Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg; 3University of Tuebingen, Institute of Pathology and Neuropathology, Tuebingen, Germany; 4Hannover Medical School, Human Genetics Department, Hannover, Germany
14. The 6-year experience on childhood myelodysplastic syndromes of the Greek study group for MDS/JMML/SAA, as a member of the EWOG-MDS/SAA working group
L. Petrikkos1, K. Stefanaki2, N. Tourkantoni3, E. Dikaia Ioannidou4, K. Tsitsikas1, K. Manola5, A. Bountali1, M. Kourti6, K. Antoniadi1, H.Tsipou3, E.Dana7, I. Pelagiadis8, A. Tragiannidis9, E. Mantadakis10, M. Economou11, M. Servitzoglou12, A. Makis13, E. Papakonstantinou6, E. Chatzipantelis9, H. Kosmidis7, E. Stiakaki8, M. Baka12, C. Kelaidi1, G. Paterakis14, E. Goussetis4, A. Kattamis3, I Peristeri4, S.Polychronopoulou1
1Department of Paediatric Haematology-Oncology (T.A.O.), «Aghia Sophia» Children’s Hospital, Athens, Greece; 2Department of Pathology, «Aghia Sophia» Children’s Hospital, Athens, Greece; 3Division of Paediatric Hematology-Oncology, 1st Dpt Of Pediatrics, National & Kapodistrian University Of Athens, «Aghia Sophia» Children’s Hospital, Athens, Greece; 4Bone Marrow Transplantation Unit, «Aghia Sophia» Children’s Hospital, Athens, Greece; 5Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center for Scientific Research «Demokritos», , Athens, Greece; 6Department of Paediatric Oncology, Hippokration General Hospital, Thessaloniki, Greece; 7Pediatric & Adolescent Oncology Clinic, “Mitera” Hospital, Athens, Greece; 8Department of Paediatric Hematology-Oncology, University Hospital of Heraklion, Heraklion, Crete, Greece; 9Division of Paediatric & Adolescent Hematology-Oncology, 2nd Dpt of Paediatrics, Aristotle University of Thessaloniki, AHEPA General Hospital, Thessaloniki, Greece; 10Department of Pediatrics, Democritus University of Thrace, University General Hospital of Alexandroupolis, Alexandroupolis, Greece; 11Division of Haematology, 1st Dpt of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece; 12Oncology Department, “P&A Kyriakou” Children’s Hospital, Athens, Greece; 13Department of Paediatrics, University of Ioannina, University Hospital, Ioannina, Greece; 14Immunology Department, Flow Cytometry Laboratory, “G.Gennimatas” General Hospital, Athens, Greece
Correspondence: L. Petrikkos
15. Favorable outcome for young patients receiving allogeneic stem cell transplantation for RUNX1 germline mutation related diseases
B.Strahm1, G. Lucchini2
1Paediatric Haemato-Oncology Unit, University of Freiburg, Freiburg, Germany; 2Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom
Correspondence: B.Strahm
16. Clinical application of transactivation assays for precise classification of germline RUNX1 missense variants associated with predisposition to MDS and AML
M. Decker1, A. Agarwal2, A. Benneche3, J.Churpek4, N. Duployez5, A.S. DuVall6, M. P.T. Ernst7, A. Förster1, H. Høberg-Vetti3,8, M. Nash9, M.H.G.P. Raaijmakers7, T.H.A. Tvedt10, A. Vlachos9, B. Schlegelberger1, T. Illig1,11, T. Ripperger1
1Department of Human Genetics, Hannover Medical School, Hannover, Germany; 2Division of Hematology and Medical Oncology, Oregon Health & Science University Knight Cancer Institute, Portland, USA; 3Western Norway Familial Cancer Center, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway; 4Department of Medicine, Section of Hematology, Oncology, and Palliative Care, The University of Wisconsin-Madison, Madison, USA; 5Department of Hematology, CHU Lille, University Lille, INSERM U1277, Lille, France; 6Division of Medicine, Section of Hematology/Oncology, University of Chicago, Chicago, USA; 7Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands; 8Affiliated Partner of the European Reference Network on Genetic Tumour Risk Syndromes, ERN GENTURIS, Project ID No 739547; 9Division of Hematology/Oncology and Cellular Therapy, Cohen Children’s Medical Center, Northwell Health, New York, USA; 10Department of Medicine, Haukeland University Hospital, Bergen, Norway; 11Hannover Unified Biobank, Hannover Medical School, Hannover, Germany
Correspondence: M. Decker
17. GATA2 in lineage differentiation and stem cell fitness
E. Gioacchino, C. Koyunlar, H. de Looper, J. Peulen, D. Bosch, R. Hoogenboezem, P. van Strien, E. Bindels, K. L Gussinklo, E. Dzierzak1,2, I. Touw and E. de Pater
1Department of Hematology, Erasmus MC, Rotterdam, The Netherland; s1Dept of Cell Biology, Erasmus MC, Rotterdam, The Netherlands; 2The Queen’s Medical Research Institute College of Medicine and Veterinary Medicine, Edinburgh, United Kingdom
18. T lymphocyte profile and dynamics in patients with hepatitis-associated bone marrow failure
M. Novakova1#, M. Svaton1#, A. Skotnicova1, M. Sukova2, D. Pospisilova3, O. Fabri4, P. Svec4, J. Trka1, O. Hrusak1, J. Stary2, E. Mejstrikova1#, E. Fronkova1#
1CLIP - Childhood Leukaemia Investigation Prague, Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; 2Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; 3Department of Pediatrics, Palacky University and University Hospital Olomouc; 4Department of Pediatric Hematology and Oncology, National Institute of Children’s Diseases and Medical Faculty, Comenius University, Bratislava, Slovakia
19. The role of the telomere length measurement in children and adolescents with aplastic anemia enrolled in the EWOG-SAA study
A. Yoshimi1, M.Wlodarski1,2, D. Lebrecht1, A. Breier1, K. Kállay3, O Smith4, F. Locatelli5, J Buechner6, I. Bodova7, J. Sevilla8, M. Schmugge9, M. Bierings10, T. Masmas11, M. Dworzak12, V. Labarque13, J. Starý14, M. Matysiak15, K. Jahnukainen16, S. Polychronopoulou17, H. Tamary18, P. Kjollerstrom19, M. Kavcic20, M. Erlacher1, P. Noellke1, C. Niemeyer1, B.Strahm1
1Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; 2Department of Hematology, St. Jude Children’s Research Hospital, Memphis, USA; 3Dept. of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest - National Institute of Hematology and Infectious Diseases, Budapest, Hungary; 4Pediatric Haematology, Our Lady’s Children’s Hospital, Dublin, Ireland; 5Department of Pediatric Hematology and Oncology, IRCCS Ospedale Pediatrico Bambino Gesù; Sapienza University of Rome, Rome, Italy; 6Department of Pediatric Hematology and Oncology, Oslo University Hospital , Oslo, Norway; 7Bone marrow transplantation unit, Detská fakultná nemocnica s poliklinikou v Bratislave, Bratislava, Slovakia; 8Hospital Infantil Universitario Niño Jesús, Madrid, Spain; 9Department of Hematology and Oncology, University Children’s Hospital, Zurich, Switzerland; 10Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands; 11Department of Hematology, Center for Hemoglobinopathies, Herlev University Hospital, Herlev, Denmark; 12Department of Pediatrics, St. Anna Children’s Hospital and Children’s Cancer Research Institute (CCRI), Medical University of Vienna, Vienna, Austria; 13Department of Pediatric Hematology and Oncology, University Hospital Leuven Gasthuisberg, Leuven, Belgium; 14Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czech Republic; 15Department of Paediatric Haematology and Oncology, Warsaw Medical University,, Warsaw, Poland; 16Division of Hematology-Oncology and SCT Children’s Hospital, University of Helsinki and Helsinki University Hospital, Hus, Finland; 17Department of Pediatric Hematology Oncology, Aghia Sophia Children’s Hospital, Athens, Greece; 18Hematology-Oncology Department, Schneider Children’s Medical Center of Israel, Petah Tiqva, Israel; 19Pediatric Hematology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal; 20Unit of Oncology and Haematology, University Children’s Hospital, Ljubljana University Medical Centre, Ljubljana, Slovenia
20. Increased Age-related B cells in patients with Acquired Aplastic Anemia
E.E Solomou, C. Salamaliki, N. Giannakoulas, P. Diamantopoulos, M. Palasopoulou, A. Galanopoulos, A.-N. Vyniou, G. Vassilopoulos, A. Symeonidis, A. Kattamis
University of Patras Medical School, Department of Internal Medicine, Patras, Greece
23. Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes
A.Narita, S. Miwata, Y. Okuno, M. Hamada, M. Imaya, A. Yamamori, M. Wakamatsu, S. Kataoka, R. Taniguchi, N. Kawashima, E. Nishikawa, N. Nishio, S. Kojima, H Muramatsu, Y.Takahashi
Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
Correspondence: A.Narita
24. Gain-of-Function Mutations in Replication Protein A1 (RPA1) Identified in Individuals with Telomere Biology Disorders
R. Sharma1, S. Sahoo1, S. Polychronopoulou2, M. Honda3, C. Goodings1, C.Kelaidi2, P. Revy4, C. Niemeyer5, M.Erlacher5, M. Wlodarski1,5
1St Jude Children’s Research Hospital, United States; 2Aghia Sophia Children’s Hospital, Athens, Greece; 3University of Iowa, Iowa City, IA, USA; 4Université de Paris, Imagine Institute, Paris, France; 5University of Freiburg, Freiburg, Germany
Correspondence: R. Sharma
25. Strategies of NGS data analysis to maximize efficiency of identification of causative gene defects in non-malignant hematological diseases and inherited bone marrow failure syndromes
J. Berner1,2,3, M. Haimel1,3,4, D. Mayr1,2,3, W. Novak2, R. J. Heredia1,3,4,5, A. Frohne1,3,4, V. Hertlein1,3,4, M. Dworzak1,2, L. Kager2, K. Boztug1,2,3,4,5
1St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria; 2St. Anna Children’s Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; 3Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; 4CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; 5Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
26. A human model of clonal evolution in Fanconi anemia
W. Marion1, O. Aumais1, D. Wang1, C.-C. Chou2, P. Sensharma1, S. Boettcher3, S. Ruiz-Torres4, S.I. Wells4, A. Shimamura1, E. Lummertz da Rocha5, B. L. Ebert3, R. Grant Rowe1
1Boston Children’s Hospital, Boston MA, USA; 2Massachusetts Institute of Technology, Cambridge, MA, USA; 3Dana-Farber Cancer Institute, Boston, MA, USA; 4Cincinnati Children’s Hospital, Cincinnati, OH, USA; 5Federal University of Santa Catarina, Florianopolis, Brazil
27. A Novel Classification of Hematologic Conditions in Patients with Fanconi Anemia – A Report from the German FA Registry
Y.L. Behrens1†, G. Göhring1†, R. Bawadi1, S. Cöktü,2 C. Reimer2, B. Hoffmann2, B. Sänger2, S. Käfer1, F. Thol3, M. Erlacher4, C.M. Niemeyer4, I. Baumann5, R. Kalb6, D. Schindler6, C.P. Kratz2
1Department of Human Genetics, Hannover Medical School, Carl-Neuberg-Str.1, 30625 Hannover, Germany; 2Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany; 3Department of Hematology, Hemostasis, Oncology and Stem Cell Transplantation, Hannover Medical School, 30625 Hannover, Germany; 4Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Faculty of Medicine, University of Freiburg, Germany and German Cancer Consortium (DKTK), Freiburg, Germany and German Cancer Research Center (DKFZ), Heidelberg, Germany; 5Institute of Pathology, Kaufbeuren, Germany; 6Department of Human Genetics, University of Würzburg, Biocenter, Würzburg, Germany
Correspondence: C.P. Kratz
28. DNMT3A and activating TP53 germline mutations mimicking Diamond-Blackfan anemia
G. Ovsyannikova, D. Fedorova, A. Pavlova, T. Konyukhova, M. Maschan, N.Smetanina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
30. Outcomes of second hematopoietic stem cell transplantation In patients with relapsed juvenile myelomonocytic leukemia
L.Vinci1, C. Flotho1, P. Noellke1, M.Erlacher1, D. Lebrecht1, R. Masetti2, V. de Haas3, B. De Moerloose4, M. Dworzak5, H. Hasle6, M.Schmugge7, J. Starý8, D. Turkiewicz9, M. Ussowicz10, A. Catala11, J. Buechner12, K. Jahnukainen13, K. Kállay14, O. Fabri15, O. Smith16, G. Göhring17, F. Locatelli18, B. Strahm1, C.M. Niemeyer1, A. Yoshimi1
1Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; 2Department of Pediatric Oncology and Hematology, University of Bologna, Bologna, Italy; 3Princess Maxima Center, Diagnostic Laboratory / DCOG Laboratory, Utrecht, The Netherlands; 4Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium; 5Department of Pediatrics, St. Anna Children’s Hospital, Medical University of Vienna, Vienna, Austria; 6Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark; 7Department of Hematology and Oncology, University Children’s Hospital, Zurich, Switzerland; 8Department of Pediatric Hematology and Oncology, Charles University and University Hospital Motol, Prague, Czech Republic; 9Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden; 10Department of Pediatric Hematology and Oncology, BMT Unit CIC 817, Wroclaw Medical University, Wroclaw, Poland; 11Department of Hematology and Oncology, Hospital Sant Joan de Deu, Barcelona, Spain; 12Department of Pediatric Hematology and Oncology, Oslo University Hospital, Oslo, Norway; 13Division of Hematology-Oncology and SCT Children’s Hospital, University of Helsinki and Helsinki University Hospital, Hus, Finland; 14Department of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest - National Institute of Hematology and Infectious Diseases, Budapest, Hungary; 15Department. of Haematology and Transfusiology, National Institute of Children’s Diseases Faculty of Medicine, Comenius University, Bratislava, Slovakia; 16Pediatric Haematology, Our Lady’s Children’s Hospital, Dublin, Ireland; 17Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany; 18Department of Pediatric Hematology and Oncology, Bambino Gesu Children’s Hospital, Sapienza, University of Rome, Rome, Italy
Correspondence: L.Vinci
31. JMML treatment strategies prior to allogeneic stem cell transplantation and survival outcomes – a single-centre experience
M. Balasch-Carulla1,2, A. Margarit-Soler2, G. Lucchini2, P. Patel3, J. Chalker4, A. Rao1
1Department of Haematology, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom; 2Great Ormond Street Hospital for Children, NHS Foundation Trust, London, United Kingdom; 3Department of Pharmacy, Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom; 4UCL Great Ormond Street Institute of Child Health, London, United Kingdom
Correspondence: M. Balasch-Carulla
32. Using BH3-mimetics in combination with azacitidine to fight juvenile myelomonocytic leukemia
Y. Wu1, S. Bohler1, N. Koleci1, L. Gallego-Villar1, G. Andrieux2, J. Rajak1, K. Aumann3, C. Niemeyer1, C. Flotho1, M. Erlacher1
1University Medical Center Freiburg, Division of Pediatric Hematology and Oncology, Freiburg, Germany; 2University Medical Center Freiburg, Institute of Medical Bioinformatics und Systems Medicine IBSM, Freiburg, Germany; 3University Medical Center Freiburg, Institute of Pathology, Freiburg, Germany
33. NF1 Tumor Suppressor Gene Inactivation in Juvenile Myelomonocytic Leukemia: Genetic Evidence and Suggestions for Diagnostic Work-Up
S. Ramamoorthy1,2, D. Lebrecht1, D. Schanze3, I. Schanze, MD3, I. Wieland3, M.H. Albert, 4, A. Borkhardt5, D. Bresters6, J. Büchner7, A. Catala8, V. De Haas9, M. Dworzak10, M. Erlacher1,11, H. Hasle,12, K. Jahnukainen3, F. Locatelli14, R. Masetti15, J. Stary6, D.Turkiewicz17, L Vinci1, M. Wlodarski1, A.Yoshimi1, M.E. Hess2, G. Andrieux2,11, M. Boerries2,11, C.M. Niemeyer1,11, Martin Zenker3 and Christian Flotho1,11
1Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; 2Institute of Medical Bioinformatics and Systems Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany; 3Human Genetics, University of Magdeburg, Magdeburg, Germany; 4Department of Pediatric Hematology and Oncology, Dr. v. Hauner Children’s Hospital, University Hospital, LMU, Munich, Germany; 5Department of Pediatric Oncology, Hematology and Immunology, University of Dusseldorf, Dusseldorf, Germany; 6Princess Maxima Center for Pediatric Oncology, Utrecht, Netherlands; 7Department of Pediatric Hematology and Oncology, Oslo University Hospital, Oslo, Norway; 8Department of Hematology and Oncology, Hospital Sant Joan de Déu, Barcelona, Spain; 9Princess Maxima Center for Pediatric Oncology, Diagnostic Laboratory / DCOG Laboratory, Utrecht, Netherlands; 10St. Anna Children’s Hospital and Cancer Research Institute, Medical University of Vienna, Vienna, Austria; 11German Cancer Consortium (DKTK) and German Cancer Research Center (DKFZ), partner site Freiburg, Freiburg, Germany; 12Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark; 13Division of Hematology-Oncology and Stem Cell Transplantation, Children’s Hospital, Helsinki University Hospital, Helsinki, Finland; 14Department of Pediatric Hematology and Oncology, Bambino Gesu Children’s Hospital, Sapienza, University of Rome, Rome, Italy; 15Department of Pediatric Oncology and Hematology, University of Bologna, Bologna, Italy; 16Department of Pediatric Hematology/ Oncology, Charles University and Univ Hospital Motol, Prague, Czech Republic; 17Department of Pediatric Oncology/Hematology, Skåne University Hospital, Lund, Sweden
34. CircRNAs Dysregulated in Juvenile Myelomonocytic Leukemia: CircMCTP1 Stands Out
A. Dal Molin1,*, M. Hofmans2,3*, E. Gaffo1, H. Cavé4, V. de Haas5,6, C. Flotho7, J. Stary8, B. De Moerloose2,9, S. Bresolin10,11, S. Bortoluzzi1,12
1Department of Molecular Medicine, University of Padova, Padova, Italy; 2Department of Pediatric Hematology-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium; 3Department of Diagnostic sciences, Ghent University Hospital, Ghent, Belgium; 4Department of Genetics, University Hospital of Robert Debré and Paris-Diderot University, Paris, France; 5Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands; 6Dutch Childhood Oncology Group, The Hague, The Netherlands; 7Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg, Germany; 8Department of Pediatric Hematology/ Oncology, Charles University and University Hospital Motol, Prague, Czech Republic; 9Cancer Research Institute Ghent, Ghent, Belgium; 10Onco-hematology, stem cell transplant and gene therapy laboratory, IRP-Istituto di Ricerca Pediatrica, Padova, Italy; 11Department of Women’s and Children’s Health, University of Padova, Padova, Italy; 12Interdepartmental Research Center for Innovative Biotechnologies (CRIBI), University of Padova, Padova, Italy
35. Immunophenotypic changes in JMML patients treated with hypomethylating agents. A correlation with clinical response assessment
A. Frisanco Oliveira1, A. Tansini1,2, T.R. Toledo1, R. Balceiro1,2, N. Villela1,2, L. Fernando Lopes1,2, I. Lorand Metze2,3
1Barretos Children Cancer Hospital, Barretos, Brazil; 2Brazilian Cooperative Group of Pediatric Myelodysplastic Syndrome, Barretos, Brazil; 3Hemocentro Hospital das Clinicas Unicamp, Campinas, Brazil
Correspondence: A. Frisanco Oliveira
P1. Myelodysplastic syndrome in two siblings with del 16q22 and family history of neutropenia
R. Balceiro1,2, A. Frisanco Oliveira1,2, N. Costa Villela1,2, H. de Campos Reis Galvão2, R. de Souza Ferreira1, V. de Oliveira Viana2,3, L. Fernando Lopes1,2
1Barretos Children’ Cancer Hospital, Barretos, Brasil; 2Brazilian Cooperative Study Group for Pediatric Myelodysplastic Syndrome (GCB-SMD-Ped) , Barretos, Brazil; 3Albert Sabin Children’s Hospital, Fortaleza, Brazil
Correspondence: R. Balceiro
P2. Emberger syndrome and GATA2 deficiency in 2 adolescents with advanced myelodysplastic syndrome - case report
R. Balceiro1,2, A. Frisanco Oliveira1,2, N. Costa Villela1,2, H. de Campos Reis Galvão2, R. de Souza Ferreira1, L. Fernando Lopes1,2
1Barretos Children’ Cancer Hospital, Barretos, Brazil; 2Brazilian Cooperative Study Group for Pediatric Myelodysplastic Syndrome (GCB-SMD-Ped), Barretos, Brazil
Correspondence: R. Balceiro
P3. Introduction of HPO annotations for enhanced identification of genotype-phenotype correlations and phenotypic disease spectra in IBMFS
J.Berner1,2,3, D. Mayr1,2,3, M. Haimel1,3,4, W. Novak2, J. Pazmandi1,3,4, V. Hertlein1,3,4, M. Dworzak1,2, L. Kager2, K. Boztug1,2,3,4,5
1St. Anna Children’s Cancer Research Institute (CCRI), Vienna, Austria; 2St. Anna Children’s Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; 3Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; 4CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; 5Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria
P4. Molecular profile and survival of patients with Juvenile Myelomonocytic Leukemia subjected to hematopoietic stem cell transplantation in a single Brazilian center
R. De Souza Ferreira1, P. Shimoda Ikeuti2,3, N. Costa Villela1,3, D. Onofre Vidal3, S. Frahia Bento da Silva1,3, J. Costa Gaspar1,3, L. Fernando Alves Lima Mantovani1, A. Mandelli Venancio1, G. Maurício Navarro Barros1, L. Fernando Lopes1
1Barretos Cancer Hospital, Barretos, Brazil; 2Instituto de Oncologia Pediátrica IOP/GRAACC/Unifesp, São Paulo, Brazil; 3Brazilian Pediatric Myelodysplastic Syndrome Study Group, Barretos, Brazil
Correspondence: R. De Souza Ferreira
P5. Identification of cooperating factors promoting leukemogenesis in individuals with GATA2 syndrome
C. Frank1, J. Fernandez-Orth1, J. Miriam Weiss1, G. Andrieux2, Venugopal R. Mittapalli1, S. Bohler1, C. Molnar1, C. Niemeyer1 and M. Erlacher1
1University Medical Center Freiburg, Center for Pediatrics Department of Pediatric Hematology and Oncology, Freiburg, Germany; 2Institut für Medizinische Bioinformatik und Systemmedizin Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg
P6. Pediatric myelodysplastic syndrome with chromosome 7 alterations: a Portuguese single centre experience
J. Gaião Santos1, I. Luz2, H. Vitória3, M. Jerónimo2, M. Brito2, M. Coucelo1, I. Ferreira4, A. Campos5, J. Azevedo1, A. Crisóstomo1
1Serviço de Hematologia Clínica, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal; 2Serviço de Oncologia Pediátrica, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal; 3Serviço de Hematologia, Centro Hospitalar Tondela-Viseu, Viseu, Portugal; 4Unidade de Transplante de Medula, Instituto Português de Oncologia de Lisboa, Lisboa, Portugal; 5Serviço de Transplantação de Medula Óssea, Instituto Português de Oncologia do Porto, Porto, Portugal
Correspondence: I. Luz
P7. Morphological Distinction Between Aplastic Anemia and Hypocellular Refractory Cytopenia of Childhood
C. Kelaidi1, G. Mitropoulou2, K.Tsitsikas1, K. Antoniadi1, A. Bountali1, L. Petrikkos1, K. Stefanaki2, S. Polychronopoulou1
1Department of Pediatric Hematology and Oncology, “Aghia Sophia” Children’s Hospital, Athens, Greece; 2Department of Pathology, “Aghia Sophia” Children’s Hospital, Athens, Greece
Correspondence: C. Kelaidi
P8. The cytogenetic profile of 14 pediatric patients with MDS by conventional and molecular cytogenetic analysis
K.N. Manola1, P. Diamantopoulou1, C. Kelaidi2, L. Petrikkos2, K. Stefanaki3, E.D. Ioannidou4, N. Tourkantoni5, K. Tsitsikas2, M. Kourti6, K. Antoniadi2, H. Tsipou5, E. Dana7, I. Pelagiadis8, E. Mantadakis9, M. Economou10, A. Makis11, E. Papakonstantinou6, H. Kosmidis7, E. Stiakaki8, G. Paterakis12, A. Kattamis5, I. Peristeri4, M.I. Margariti1, D. Pantelia1, C. Sambani1, S. Polychronopoulou2
1Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center for Scientific Research Demokritos, Athens, Greece; 2Department of Paediatric Haematology-Oncology, Aghia Sophia Children’s Hospital, Athens, Greece; 3Department of Pathology, Aghia Sophia Children’s Hospital, Athens, Greece; 4Bone Marrow Transplantation Unit,«Aghia Sophia Children’s Hospital, Athens, Greece; 5Division of Paediatric Hematology-Oncology, 1st Dpt of Pediatrics, National & Kapodistrian University Of Athens, Aghia Sophia Children’s Hospital, Athens, Greece; 6Departments of Paediatric Oncology, Hippokration General Hospital, Thessaloniki, Greece; 7Pediatric & Adolescent Oncology Clinic, “Mitera” Hospital, Athens, Greece; 8Department of Paediatric Hematology-Oncology, University Hospital of Heraklion, Heraklion, Crete, Greece; 9Department of Pediatrics, Democritus University of Thrace, University General Hospital of Alexandroupolis, Alexandroupolis, Greece; 10Division of Haematology, 1st Dpt of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, Thessaloniki, Greece; 11Department of Paediatrics, University of Ioannina, University Hospital, Ioannina, Greece; 12Department of Immunology, Peripheral General Hospital Athens Giorgos Gennimatas, Athens, Greece
P9. Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) in Childhood Myelodysplastic Syndrome (MDS) – The Greek Experience
C. Oikonomopoulou, A. Paisiou, A. Komitopoulou, E.-D. Ioannidou, A. Kaisari, M. Kastamoulas, G. Stavroulaki, G. Vessalas, E. Goussetis, I.Peristeri
Stem Cell Transplant Unit, Aghia Sophia Children’s Hospital, Greece
Correspondence: C. Oikonomopoulou
P10. Allogeneic Hematopoietic Stem Cell Transplantation in Pediatric Patients with Juvenile Myelomonocytic Leukemia (JMML) – The Greek Experience
C. Oikonomopoulou, A. Paisiou, A. Komitopoulou, E.-D. Ioannidou, A. Kaisari, M. Kastamoulas, G. Stavroulaki, G. Vessalas, E. Goussetis, I.Peristeri
Stem Cell Transplant Unit, Aghia Sophia Children’s Hospital, Athens, Greece
Correspondence: C. Oikonomopoulou
P11. Monocentric experience with pediatric patients with GATA2 deficiency
G. Ovsyannikova, A. Pavlova, E. Deordieva, T. Konyukhova, M. Maschan, N. Smetanina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
P12. MDS progressing to CMML in a 8-year old girl with Fanconi anemia and mosaic trisomy of 8 chromosome
K. Pawelec, E. Stanczak-Bujnicka
Department of Pediatric Hematology and Oncology Medical University od Warsaw, Warszawa, Poland
Correspondence: K. Pawelec
P13. Juvenile Myelomonocytic (JMML) leukemia in GREECE 2015-2021: the experience of the Greek study group for MDS/JMML/SAA, as a member of the EWOG-MDS/SAA working group
L. Petrikkos1, N. Tourkantoni2, E. Mantadakis3, C.Kelaidi1, M. Servitzoglou4, E. Dikaia Ioannidou5, K. Tsitsikas1, K.Manola6, M. Kourti7, A. Tragiannidis8, E. Dana9, H. Tsipou2, N. Katzilakis10, K. Antoniadi1, M. Economou11, A.Makis12, M. Baka4, E. Papakonstantinou7, E. Chatzipantelis8, H.Kosmidis9, E.Stiakaki10, K.Stefanaki13, G.Paterakis14, I.Peristeri5, A. Kattamis2, S.Polychronopoulou1
1Department of Paediatric Haematology-Oncology (Τ.Α.Ο.), «Aghia Sophia» Children’s Hospital, Athens, Greece; 2Division of Paediatric Hematology-Oncology, 1st Dpt of Pediatrics, National & Kapodistrian University Of Athens, «Aghia Sophia» Children’s Hospital, Athens, Greece; 3Department of Pediatrics, Democritus University of Thrace, University General Hospital of Alexandroupolis, Alexandroupolis, Greece; 4Oncology Department, “P&A Kyriakou” Children’s Hospital, Athens, Greece; 5Bone Marrow Transplantation Unit, «Aghia Sophia» Children’s Hospital, Athens, Greece; 6Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center for Scientific Research «Demokritos» , Athens, Greece; 7Department of Paediatric Oncology, Hippokration General Hospital, Thessaloniki, Greece; 8Division of Paediatric & Adolescent Hematology-Oncology, 2nd Dpt of Paediatrics, Aristotle University of Thessaloniki, AHEPA General Hospital, Thessaloniki, Greece; 9Pediatric & Adolescent Oncology Clinic, “Mitera” Hospital, Athens, Greece; 10Department of Paediatric Hematology-Oncology, University Hospital of Heraklion, Heraklion. Crete, Greece; 11Division of Haematology, 1st Dpt of Paediatrics, Aristotle University of Thessaloniki, Hippokration General Hospital, , Thessaloniki, Greece; 12Department of Paediatrics, University of Ioannina, University Hospital, Ioannina, Greece; 13Department of Pathology, «Aghia Sophia» Children’s Hospital, Athens, Greece; 14Immunology Department, Flow Cytometry Laboratory, “G.Gennimatas” General Hospital, Athens, Greece
Correspondence: L. Petrikkos
Karyotype | Mutated gene | Therapeutic approach | |
---|---|---|---|
Patient-1 | 45,XY,-7[8]/46,XY[2] | KRAS (somatic) | Cytoreduction (6-MP/AraC) + SCT |
Patient-2 | 46,ΧΧ[25] | NRAS (germline) | 6-MP (for 3 years) then watchful waiting |
Patient-3 | 47,XYY,1qh+[25] | CBL (germline) | Watchful waiting |
Patient-4 | 46,ΧΥ[25] | KRAS (somatic) | Azacitidine+SCT, Azacitidine+venetoclax+2nd SCT |
Patient-5 | 46,ΧΥ[25] | RRAS2 (germline) | Watchful waiting |
Patient-6 | 46,ΧΧ[19] | PTPN11 (somatic) | Azacitidine+SCT |