Cytogenetic evidence for a clonal involvement of granulocyte-macrophage and erythroid lineages in a patient with refractory anaemia.
To investigate the clonal origin of refractory anaemia, we carried out cytogenetic studies on single haematopoietic colonies derived from granulocyte-macrophage precursors (CFU-GM) and erythroid precursors (BFU-E). Marrow cells from a patient with refractory anaemia revealed the coexistence of a normal and an abnormal karyotype; 46,XY/45,XY,-15,-18,+der(15q18q). Cytogenetic studies on CFU-GM- and BFU-E-derived colonies obtained from the bone marrow showed the presence of the same karyotypic abnormality carrying the der(15q18q). Colonies carrying a normal diploid karyotype were also detected in the same culture dish. These results indicate that the clone with the der(15q18q) chromosome abnormality arises in a stem cell which can differentiate to at least both granulocyte-macrophage and erythroid lineages.
D000328:Adult; D000753:Anemia, Refractory / Q000235:genetics* / Q000473:pathology; D002454:Cell Differentiation; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D002999:Clone Cells / Q000473:pathology; D003114:Colony-Forming Units Assay; D004912:Erythrocytes / Q000473:pathology; D006098:Granulocytes / Q000473:pathology; D006412:Hematopoietic Stem Cells / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008264:Macrophages / Q000473:pathology; D008297:Male