title: Cytogenetic and molecular characterization of simultaneous chronic and acute myelocytic leukemia.
abstract: 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.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum, Kiel, Germany. sharder@medgen.uni-kiel.de
authors.forename: L
authors.initials: L
authors.lastname: Harder
authors.forename: S
authors.initials: S
authors.lastname: Gesk
authors.forename: J I
authors.initials: JI
authors.lastname: Martin-Subero
authors.forename: H
authors.initials: H
authors.lastname: Merz
authors.forename: A
authors.initials: A
authors.lastname: Hochhaus
authors.forename: E
authors.initials: E
authors.lastname: Maass
authors.forename: A
authors.initials: A
authors.lastname: Feller
authors.forename: W
authors.initials: W
authors.lastname: Grote
authors.forename: R
authors.initials: R
authors.lastname: Siebert
authors.forename: S
authors.initials: S
authors.lastname: Fetscher
mesh_terms: 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
chemical_list: D016044:Fusion Proteins, bcr-abl