title: [Laboratory study on a rare case of chronic myeloid leukemia with ins(22;9)t(9;13) and Ph-negative].
abstract: The study aimed to examine a rare case of Philadelphia (Ph)-negative chronic myeloid leukemia (CML) with t(9;13). Chromosome samples were prepared after culture of bone marrow cells for 24 hours, the karyotypes were analyzed by G banding technique. Chromosome painting analysis was performed by using whole chromosome paints for chromosomes 9 and 22. Fluorescence in situ hybridization (FISH) was done with dual color dual fusion LSI bcr/abl probe. Bcr/abl transcripts were detected by real time fluorescence quantitative polymerase chain reaction (RQ-PCR). As a result, G banding analysis showed a karyotype of 45, XX, der(9)t(9;13)(q34;q10), -13[20]. FISH assay using LSI bcr/abl DNA probe showed a red abl signal inserted into der(22) and a fusion signal of bcr/abl rearrangement was discovered. RQ-PCR detected high copies of bcr/abl transcripts. In conclusion, insertion of bcr/abl rearrangement was a rare variant t(9;22) and could be well detected by molecular techniques, however, regular cytogenetic banding technique and whole chromosome paintings may probably lead a misdiagnosis to such cases.
authors.affiliation: Peking University People's Hospital, Peking University Institute of Hematology, Beijing 100044, China. laiyueyun1008@yahoo.com.cn
authors.forename: Yue-Yun
authors.initials: YY
authors.lastname: Lai
authors.forename: Lin
authors.initials: L
authors.lastname: Feng
authors.forename: Zheng
authors.initials: Z
authors.lastname: Wang
authors.forename: Qi
authors.initials: Q
authors.lastname: He
authors.forename: Hui
authors.initials: H
authors.lastname: Dang
authors.forename: Yan
authors.initials: Y
authors.lastname: Shi
authors.forename: Shan
authors.initials: S
authors.lastname: Lv
authors.forename: Ya-Zhen
authors.initials: YZ
authors.lastname: Qin
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Huang
mesh_terms: D020223:Chromosome Painting; D002882:Chromosomes, Human, Pair 13; D002892:Chromosomes, Human, Pair 22; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D008875:Middle Aged