Background. An 8-year-old boy, initially diagnosed with Philadelphia c
hromosome-positive (Ph(+)) acute lymphoblastic leukemia (ALL) (French-
American-British [FAB]-L1), relapsed with Ph(+) acute myelogenous leuk
emia (AML) (FAB-M2) 21 months after successful ALL treatment with stan
dard therapy. Methods. The initial ALL presentation and subsequent AML
relapse were analyzed by conventional morphologic, cytochemical, immu
nophenotypic, and cytogenetic studies. Results. Molecular analysis bas
ed on the polymerase chain reaction identified the presence of a bcr-I
-abl fusion transcript at initial ALL presentation, the completion of
ALL therapy, and AML relapse. Conclusions. The cytogenetic and molecul
ar results support a common clonal origin for this process. This is a
case of lineage switch in a Ph(+) acute leukemia. This case thus illus
trates a manifestation of heterogeneous lineage differentiation among
Ph(+) acute leukemias.