Laboratory study on a rare case of chronic myeloid leukemia with ins(22;9)t(9;13) and Ph-negative.
- Author:
Yue-Yun LAI
1
;
Lin FENG
;
Zheng WANG
;
Qi HE
;
Hui DANG
;
Yan SHI
;
Shan LV
;
Ya-Zhen QIN
;
Xiao-Jun HUANG
Author Information
1. Peking University People's Hospital, Peking University Institute of Hematology, Beijing 100044, China. laiyueyun1008@yahoo.com.cn
- Publication Type:Case Reports
- MeSH:
Chromosome Painting;
Chromosomes, Human, Pair 13;
Chromosomes, Human, Pair 22;
Chromosomes, Human, Pair 9;
Female;
Humans;
Karyotyping;
Leukemia, Myelogenous, Chronic, BCR-ABL Positive;
genetics;
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative;
genetics;
Middle Aged
- From:
Journal of Experimental Hematology
2010;18(2):355-358
- CountryChina
- Language:Chinese
-
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.
