title: [Late appearance of Philadelphia chromosome with bcr gene rearrangement in an acute myelocytic leukemia patient].
abstract: A case of acute myelocytic leukemia (AML-M2) with a late appearance of Philadelphia chromosome (Ph1) is presented. Chromosome analysis revealed a normal karyotype at the time of diagnosis and for 23 months, when hematological relapse occurred, accompanied by abnormal clones, 46, XX, t(9;22) (q34;q11) (78%) and 45,XX, -16, t(9;22) (q34;q11), del (5) (q13q31) (22%). The patient died of GVHD after bone marrow transplantation. Molecular analysis confirmed bcr gene rearrangement in the cells with Ph1 chromosome. Acquisition of Ph1 chromosome during the course of hematological malignancies other than CML is extremely rare. This case is undoubtedly important for the understanding of leukemogenesis and the evolution of leukemia clones. The authors discussed possible mechanisms of Ph1 acquisition in the late stages of AML.
authors.forename: M
authors.initials: M
authors.lastname: Takechi
authors.forename: K
authors.initials: K
authors.lastname: Tanaka
authors.forename: C
authors.initials: C
authors.lastname: Sigeta
authors.forename: N
authors.initials: N
authors.lastname: Oguma
authors.forename: N
authors.initials: N
authors.lastname: Kamada
authors.forename: T
authors.initials: T
authors.lastname: Kyo
authors.forename: H
authors.initials: H
authors.lastname: Dohi
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D005810:Multigene Family; D010677:Philadelphia Chromosome