title: Molecular cytogenetic delineation of the critical deleted region in the 5q- syndrome.
abstract: The 5q- syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological abnormalities of megakaryocytes, and del(5q) as the sole cytogenetic abnormality. In contrast to patients with therapy-related MDS with 5q deletions, 5q- syndrome patients have a favourable prognosis and a low rate of transformation to acute leukaemia. We have previously delineated a common deleted region of 5.6 Mb between the gene for fibroblast growth factor acidic (FGF1) and the subunit of interleukin 12 (IL12B) in two patients with 5q- syndrome and small deletions, del(5)(q31q33). The present study used fluorescence in situ hybridisation (FISH) analysis of these and a third 5q- syndrome patient with a small deletion, del(5)(q33q34), to refine further the critical deleted region. This resulted in the narrowing of the common deleted region within 5q31.3-5q33 to approximately 3 Mb, flanked by the adrenergic receptor beta 2 (ADRB2) and IL/2B genes. The common region of loss in these three 5q- syndrome patients includes the macrophage colony-stimulating factor-1 receptor (CSF1R), secreted protein, acidic, cysteine-rich (SPARC), and glutamate receptor (GR1A1) genes. This 5q- syndrome critical region is telomeric to and distinct from the other critical regions on 5q associated with MDS and acute myeloid leukaemia.
authors.affiliation: University Department of Cellular Science, John Radcliffe Hospital, Oxford, United Kingdom.
authors.forename: R J
authors.initials: RJ
authors.lastname: Jaju
authors.forename: J
authors.initials: J
authors.lastname: Boultwood
authors.forename: F J
authors.initials: FJ
authors.lastname: Oliver
authors.forename: M
authors.initials: M
authors.lastname: Kostrzewa
authors.forename: C
authors.initials: C
authors.lastname: Fidler
authors.forename: N
authors.initials: N
authors.lastname: Parker
authors.forename: J D
authors.initials: JD
authors.lastname: McPherson
authors.forename: S W
authors.initials: SW
authors.lastname: Morris
authors.forename: U
authors.initials: U
authors.lastname: Müller
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; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*
chemical_list: D005819:Genetic Markers