Myelodysplastic syndrome (MDS)

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

Definition

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.

Occurrence

Myelodysplastic syndrome (MDS) is very rare in children.

Symptoms

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.

Diagnosis

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.

Classification

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.

Therapy

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.