title: HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS.
abstract: We describe the molecular characterization of a t(7;9)(p15;q34) found in a 15-month-old female patient, diagnosed with refractory anemia with excess blasts in transformation (RAEBt), in progression to acute myeloid leukemia (AML) M7. Molecular characterization of the 7p15 breakpoint showed that this was localized within a fully sequenced PAC clone RP1-170O19 containing the HOXA4 to HOXA13 genes and the EVX1 gene. The 9q34 breakpoint was mapped distal to ABL1 and proximal to NOTCH1 excluding their involvement as fusion gene partners. Our findings suggest a causal role for HOXA genes in childhood myelodysplasia and warrant investigation of this locus in a larger series of patients.
authors.affiliation: Center for Medical Genetics, University Hospital Ghent 1K5, De Pintelaan 185, Getnt B-9000, Belgium.
authors.forename: Bruce
authors.initials: B
authors.lastname: Poppe
authors.forename: Nurten
authors.initials: N
authors.lastname: Yigit
authors.forename: Barbara
authors.initials: B
authors.lastname: De Moerloose
authors.forename: Anne
authors.initials: A
authors.lastname: De Paepe
authors.forename: Yves
authors.initials: Y
authors.lastname: Benoit
authors.forename: Frank
authors.initials: F
authors.lastname: Speleman
mesh_terms: D002897:Chromosomes, Human, Pair 7; D002899:Chromosomes, Human, Pair 9; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D018398:Homeodomain Proteins; C088144:HoxA protein