V. Najfeld et al., ACQUISITION OF THE PH CHROMOSOME AND BCR-ABL FUSION PRODUCT IN AML-MZAND T(8-21) LEUKEMIA - CYTOGENETIC AND FISH EVIDENCE FOR A LATE EVENT, Leukemia, 12(4), 1998, pp. 517-519
A patient with the M2 subtype of AML who had a 45,X,-X,t(8;21) karyoty
pe at diagnosis was found to have the Ph chromosome in one out of 37 e
valuated cells 18 months after the initial diagnosis. Interphase FISH
studies utilizing a BCR-ABL dual-color probe did not detect a fusion p
roduct 4 months prior to the appearance of one Ph-positive cell. Ninet
een months post diagnosis and 5 months after clinical relapse all eval
uated cells had the Ph chromosome in a clone characterized by t(8;21).
These observations suggest that late appearing Ph is a secondary even
t which may be either therapy-related or consistent with one of the la
ter events in a multistep pathogenesis of AML.