title: Variant Philadelphia translocations in chronic myeloid leukaemia can mimic typical blast crisis chromosome abnormalities or classic t(9;22): a report of two cases.
abstract: A range of fluorescent in situ hybridization techniques have been used to reveal hidden variant Philadelphia translocations in two cases of Ph-positive chronic-phase chronic myeloid leukaemia. In one patient, a highly complex variant Ph translocation affecting four chromosomes had resulted in the formation of structures with the appearance of i(17q) and +8. Misinterpretation of these karyotypes has direct clinical relevance. Our findings illustrate that even established cytogenetic abnormalities may contain cryptic abnormalities beyond the resolution of conventional cytogenetic methods.
authors.affiliation: Department of Haematology, University of Cambridge, Addenbrookes Hospital, Cambridge, UK.
authors.forename: A
authors.initials: A
authors.lastname: Reid
authors.forename: S M
authors.initials: SM
authors.lastname: Gribble
authors.forename: B J
authors.initials: BJ
authors.lastname: Huntly
authors.forename: K M
authors.initials: KM
authors.lastname: Andrews
authors.forename: L
authors.initials: L
authors.lastname: Campbell
authors.forename: C D
authors.initials: CD
authors.lastname: Grace
authors.forename: M E
authors.initials: ME
authors.lastname: Wood
authors.forename: A R
authors.initials: AR
authors.lastname: Green
authors.forename: E P
authors.initials: EP
authors.lastname: Nacheva
mesh_terms: D000368:Aged; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008677:Metaphase; D010677:Philadelphia Chromosome; D014178:Translocation, Genetic