title: A study to determine whether trisomy 8, deleted 9q and trisomy 22 are markers of cryptic rearrangements of PML/RARalpha, AML1/ETO and CBFB/MYH11 respectively in acute myeloid leukaemia. MRC Adult Leukaemia Working Party. Medical Research Council.
abstract: Acute myeloid leukaemia (AML) patients with either a t(15;17), t(8;21) or inv(16) at diagnosis have 'good-risk' disease with a favourable response to therapy and improved survival. Detection of cryptic fusion genes created by these translocations has been reported where there is no cytogenetic evidence of the corresponding abnormality. It is likely that these cases share the same favourable prognosis. Secondary cytogenetic changes commonly associated with these rearrangements are +8 with t(15;17), del(9q) with t(8;21) and +22 with inv(16). These secondary abnormalities are also observed alone, raising the possibility that they may be markers of underlying cryptic rearrangements. In order to determine the frequency of these rearrangements in AML cases with +8, del(9q) or +22 we have performed an analysis of 63 such patients in whom there was no evidence of a t(15;17), t(8;21) or inv(16) by cytogenetics. No disease-related fusion transcripts were identified, indicating that the secondary changes are rarely markers for cryptic rearrangements.
authors.affiliation: Department of Haematology, University College of London Hospitals and Medical School.
authors.forename: S E
authors.initials: SE
authors.lastname: Langabeer
authors.forename: D
authors.initials: D
authors.lastname: Grimwade
authors.forename: H
authors.initials: H
authors.lastname: Walker
authors.forename: J R
authors.initials: JR
authors.lastname: Rogers
authors.forename: A K
authors.initials: AK
authors.lastname: Burnett
authors.forename: A H
authors.initials: AH
authors.lastname: Goldstone
authors.forename: D C
authors.initials: DC
authors.lastname: Linch
mesh_terms: D000208:Acute Disease; D000328:Adult; D014408:Biomarkers, Tumor / Q000235:genetics*; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy
chemical_list: D014408:Biomarkers, Tumor; D015514:Oncogene Proteins, Fusion