EWOG-MDS 2006

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

• Confirmed diagnosis of MDS or JMML (morphology, cytogenetics)
• Myeloid leukemia of Down syndrome (patients aged > 6 years).
• Age: age less than 18 years

• 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).