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The 5q- syndrome is a distinct subtype of myelodysplastic syndrome (MDS) characterized by refractory anemia, deletion of the long arm of chromosome 5, del(5q), as the sole cytogenetic abnormality, and a low frequency of transformation to acute leukemia. Using combined immunophenotyping and fluorescence in situ hybridization (FISH), studies were carried out on bone marrow smears of three 5q- syndrome cases to identify the cell lineages carrying the 5q deletion. In all three cases, the granulocytic, monocytic, and erythroid lineages possessed the del(5q) clonal marker, whereas the T-lymphocytes did not. Interestingly, in one case, cells of B-lymphoid lineage also showed the presence of the del(5q). This is the first report to date showing involvement of an acquired 5q deletion associated with MDS in B-cells. This result suggests that in some cases, MDS arises in a multipotent cell with a capacity to differentiate into both myeloid and lymphoid cells.


Journal article


Genes Chromosomes Cancer

Publication Date





276 - 280


Adult, Aged, Anemia, Refractory, B-Lymphocytes, Biomarkers, Bone Marrow Cells, Chromosome Deletion, Chromosomes, Human, Pair 5, Female, Humans, Immunophenotyping, In Situ Hybridization, Fluorescence, Middle Aged, Myelodysplastic Syndromes