Refractory anaemia with preleukaemic polyclonal haemopoiesis and the emergence of monoclonal erythropoiesis on disease progression.
We describe a young woman with a myelodysplastic syndrome (MDS) of the type refractory anaemia (RA) which remained stable for 11 years and then underwent rapid progression manifested by bone marrow failure with the emergence of a complex clonal cytogenetic abnormality. Peripheral blood granulocytes, mononuclear cells and bone marrow erythroblasts were all polyclonal by X-inactivation analysis detected by the probe M27B during the preleukaemic phase. On disease progression, bone marrow erythroblasts developed an extremely skewed monoclonal pattern of X-inactivation. In some cases of MDS, therefore, polyclonal haemopoiesis can be detected for a considerable time during the preleukaemic phase and we report the demonstration of bone marrow erythroblasts changing from a polyclonal to a monoclonal pattern on disease progression.
Culligan
D J
DJ
Department of Haematology, University Hospital of Wales, Cardiff.
Bowen
D T
DT
May
A
A
White
D
D
Padua
R A
RA
Burnett
A K
AK
D000328:Adult; D000753:Anemia, Refractory / Q000097:blood / Q000235:genetics* / Q000473:pathology; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D018450:Disease Progression; D004303:Dosage Compensation, Genetic; D004900:Erythroblasts; D004920:Erythropoiesis / Q000235:genetics; D005260:Female; D006410:Hematopoiesis / Q000235:genetics*; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006801:Humans; D011289:Preleukemia / Q000235:genetics*