Cytogenetic and molecular characterization of simultaneous chronic and acute myelocytic leukemia.
We describe a patient initially diagnosed with a chronic myeloproliferative disorder in the accelerated phase. Cytogenetic analysis showed the presence of two independent clones. One clone contained a typical Philadelphia (Ph) chromosome due to t(9;22)(q34;q11), as the sole abnormality which was proven molecularly to result in the b2a2-BCR/ABL fusion. The other clone displayed a complex karyotype with several structural and numerical aberrations including trisomy 11 and 22 but lacking a t(9;22) or any other structural abnormalities involving chromosomes 9 and 22. Fluorescence in situ hybridization demonstrated that the t(9;22) was present only in cells with two copies of chromosomes 11 and 22. In contrast, cells with trisomies 11 and 22 lacked evidence for a BCR/ABL fusion. Based on the genetic findings, simultaneous chronic and acute myelocytic leukemias were diagnosed rather than a blastic phase of a chronic myelocytic leukemia.
Harder
L
L
Institut für Humangenetik, Universitätsklinikum, Kiel, Germany. sharder@medgen.uni-kiel.de
Gesk
S
S
Martin-Subero
J I
JI
Merz
H
H
Hochhaus
A
A
Maass
E
E
Feller
A
A
Grote
W
W
Siebert
R
R
Fetscher
S
S
D000368:Aged; D001853:Bone Marrow / Q000502:physiology; D002869:Chromosome Aberrations; D002877:Chromosomes, Human; D020732:Cytogenetic Analysis; D003937:Diagnosis, Differential; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D010677:Philadelphia Chromosome; D014178:Translocation, Genetic
D016044:Fusion Proteins, bcr-abl