Variant Philadelphia translocations in chronic myeloid leukaemia can mimic typical blast crisis chromosome abnormalities or classic t(9;22): a report of two cases.
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.
Reid
A
A
Department of Haematology, University of Cambridge, Addenbrookes Hospital, Cambridge, UK.
Gribble
S M
SM
Huntly
B J
BJ
Andrews
K M
KM
Campbell
L
L
Grace
C D
CD
Wood
M E
ME
Green
A R
AR
Nacheva
E P
EP
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