title: Refractory anaemia with preleukaemic polyclonal haemopoiesis and the emergence of monoclonal erythropoiesis on disease progression.
abstract: 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.
authors.affiliation: Department of Haematology, University Hospital of Wales, Cardiff.
authors.forename: D J
authors.initials: DJ
authors.lastname: Culligan
authors.forename: D T
authors.initials: DT
authors.lastname: Bowen
authors.forename: A
authors.initials: A
authors.lastname: May
authors.forename: D
authors.initials: D
authors.lastname: White
authors.forename: R A
authors.initials: RA
authors.lastname: Padua
authors.forename: A K
authors.initials: AK
authors.lastname: Burnett
mesh_terms: 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*