Author:  Dipl.-Inform. MPH Peter Nöllke, Prof. Dr. med. Charlotte Niemeyer, Last modification: 2019/09/17 https://kinderkrebsinfo.de/doi/e5363

EWOG-MDS 2006 Prospective non–randomized multi-center study for epidemiology and characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leukemia (JMML) in childhood
Disease Myelodysplastic Syndrome (MDS) and Juvenile Myelomonocytic Leukemia (JMML) in childhood
Type Trial aiming at the standardization of diagosis and therapy
Problem / Objectives

The aim of the study is to improve the accuracy of diagnosis for children and adolescents with MDS by a standardized review of morphology and standardized cytogenetic and molecular analyses.

Primary objectives

  • To evaluate the frequency of the different subtypes of MDS in childhood and adolescence by a standardized diagnostic approach
  • To evaluate the frequency of cytogenetic and molecular abnormalities: -Specifically using array-CGH to evaluate the frequency of subtle chromosomal imbalances, i.e.gains and losses of defined chromosomal regions, and amplifications.-Specifically using mFISH to identify unknown chromosomal aberrations, particularly subtle translocations involving new candidate genes, and to better define chromosomal breakpoints.

Secondary objectives

  • To assess survival for children and adolescents with MDS and JMML
  • To evaluate relapse rate, morbidity and mortality in children with MDS and JMML treated by HSCT
Inclusion Criteria
  • Confirmed diagnosis of MDS or JMML (morphology, cytogenetics)
  • Myeloid leukemia of Down syndrome (patients aged > 6 years).
  • Age: age less than 18 years
Exclusion Criteria
  • Denied informed consent and/or assent by caretakers/patient.
  • Fanconi anemia (diagnosed by chromosomal breakage, G2 cell cycle arrest, Western blot or mutational analysis) or other congenital bone marrow failure disorders (diagnosed clinically or by disease specific germ line mutations) without secondary MDS. Secondary MDS in congenital bone marrow failure is defined by a consistent acquired bone marrow abnormality as a) increase in blasts, b) acquired consistent, hromosomal abnormality, c) increasing bone marrow cellularity in the presence of blood pancytopenia
  • Shwachman syndrome or Fanconi anemia with a single aberration not typical of MDS.
  • Translocation characteristic for de novo AML like t(8;21)(q22;q22) [AML1/ETO fusion gene], t(15,17)(q22;q12) [PML/RARα rearrangement], inv(16)(p13q22) [CBFβ/MYH11rearrangement]
  • Myeloid leukemia of Down syndrome (patients aged < 6 years).
  • Participation in another interventional study within the last 4 weeks (except for therapy optimizing
  • studies in cancer or bone marrow failure, diagnostic protocols).
Recruitment 260
Status Start 01/01/2007; end of recruitment: 01/04/2013
Principal Investigator Prof. Dr. med. Charlotte Niemeyer
E-Mail ewog-mds@uniklinik-freiburg.de
URL http://www.ewog-mds.org/


Prof. Dr. Charlotte Niemeyer Universitätsklinikum Freiburg, ZKJ Klinik IV: Pädiatrische Hämatologie und Onkologie Mathildenstraße 1 79106 Freiburg i. Brsg. Telefon +49 (761) 270 45060 Fax +49 (761) 270 45180 charlotte.niemeyer@uniklinik-freiburg.de


Peter Noellke Univ. Klinikum Freiburg Zentrum für Kinderheilkunde und Jugendmedizin, Abt. f. Päd. Hämatologie und Onkologie Mathildenstr. 1 79106 Freiburg Telefon +49 (761) 270 46190 Fax +49 (0)761 270 9646 200 peter.noellke@uniklinik-freiburg.de

Sponsoring Carreras-Stiftung, Förderverein für krebskranke Kinder e.V., Freiburg i. Br.