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 erythro‐blasts 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.

[1]  M. Ichihara,et al.  Evidence for nonclonal hematopoietic progenitor cell populations in bone marrow of patients with myelodysplastic syndromes. , 1994, Blood.

[2]  J. Rowley,et al.  Cytogenetic clonality in myelodysplastic syndromes studied with fluorescence in situ hybridization: lineage, response to growth factor therapy, and clone expansion , 1993 .

[3]  R. Larson,et al.  Cytogenetic clonality in myelodysplastic syndromes studied with fluorescence in situ hybridization: lineage, response to growth factor therapy, and clone expansion. , 1993, Blood.

[4]  J. Whittaker,et al.  Methylation of the DXS255 hypervariable locus 5' CCGG site may be affected by factors other than X-chromosome activation status. , 1992, Genomics.

[5]  J. Whittaker,et al.  Clonal lymphocytes are detectable in only some cases of MDS , 1992, British journal of haematology.

[6]  D. Oscier,et al.  Clonality of cell populations in refractory anaemia using combined approach of gene loss and X‐linked restriction fragment length polymorphism‐methylation analyses , 1991, British journal of haematology.

[7]  J. Gutterman,et al.  Stimulation of nonclonal hematopoiesis and suppression of the neoplastic clone after treatment with recombinant human granulocyte-macrophage colony-stimulating factor in a patient with therapy-related myelodysplastic syndrome. , 1989, Blood.

[8]  G. Mufti,et al.  Loss of ras oncogene mutation in a myelodysplastic syndrome after low-dose cytarabine therapy. , 1988, The New England journal of medicine.

[9]  A. May,et al.  Enrichment of erythroblasts from human bone marrow using complement‐mediated lysis: measurement of ferritin , 1983, British journal of haematology.