title: Combined immunophenotyping and FISH identifies the involvement of B-cells in 5q- syndrome.
abstract: 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.
authors.affiliation: Leukaemia Research Fund Molecular Haematology Unit, Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford, UK. rina.jaju@cellular-science.ox.ac.uk
authors.forename: R J
authors.initials: RJ
authors.lastname: Jaju
authors.forename: M
authors.initials: M
authors.lastname: Jones
authors.forename: J
authors.initials: J
authors.lastname: Boultwood
authors.forename: S
authors.initials: S
authors.lastname: Kelly
authors.forename: D Y
authors.initials: DY
authors.lastname: Mason
authors.forename: J S
authors.initials: JS
authors.lastname: Wainscoat
authors.forename: L
authors.initials: L
authors.lastname: Kearney
mesh_terms: D000328:Adult; D000368:Aged; D000753:Anemia, Refractory / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D001402:B-Lymphocytes / Q000473:pathology*; D015415:Biomarkers; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D006801:Humans; D016130:Immunophenotyping / Q000379:methods; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*
chemical_list: D015415:Biomarkers