Myelodysplastic syndrome (MDS)

Classification according to ICCC : I.d (Myelodysplastic syndrome and other myeloproliferative diseases)


Myelodysplastic syndrome (MDS) is a malignant disorder of pluripotent stem cells which affects all haematopoietic series. It develops as a result of a characteristic defect of a stem cell (monosomy of 7th chromosome, monosomy of 5th chromosome, 7q-, 5q-). It is a preleukaemic state.


Myelodysplastic syndrome (MDS) is very rare in children.


MDS symptoms correspond to the state of the blood count, which shows pancytopenia; anaemic syndrome, bleeding into the skin and mucous membranes, symptoms of infections as a result of neutropenia.


Pancytopenia is apparent in the blood count. The diagnosis is based on the examination of bone marrow biopsy: bone marrow is normocellular and rich in cells, showing dysplastic changes in all haematopoietic series. The abnormal blood count adds to the finding of the above-mentioned cytogenetic pathology.


MDS classification systems divide MDS into subtypes, based on the results of blood and bone marrow tests. The three main subtypes involve:

  • RA – refractory anaemia
  • RAEB – refractory anaemia with excess blasts
  • RAEB-t – refractory anaemia with excess blasts in transformation

Transition to acute myeloid leukaemia is the next stage of disease development. Juvenile myelomonocytic leukaemia (JMML) is present in infants, with thrombocytopenia as a characteristic feature in the blood count, apart from leucocytosis. Hepatosplenomegaly is noticeable.


MDS is treated with an allogeneic transplantation of stem cells.

Role of general paediatrician

The general paediatrician plays a crucial role in the first steps of the diagnostic process.