Author/Authors :
Takeshita، نويسنده , , Akihiro and Naito، نويسنده , , Kensuke and Shinjo، نويسنده , , Kaori and Sahara، نويسنده , , Naohi and Matsui، نويسنده , , Hirotaka and Ohnishi، نويسنده , , Kazunori and Beppu، نويسنده , , Hiroki and Ohtsubo، نويسنده , , Kaori and Horii، نويسنده , , Toshinobu and Maekawa، نويسنده , , Masato and Inaba، نويسنده , , Toshiya and Ohno، نويسنده , , Ryuzo، نويسنده ,
Abstract :
A NUP98 gene translocation occurring with a del(6p23) and an add(11)(p15) was determined in a 61-year-old patient with therapy-related atypical chronic myelocytic leukemia after complete remission from acute promyelocytic leukemia that eventually underwent clonal evolution and transformed to CD56-positive acute myelocytic leukemia (French–American–British classification M0). Precise chromosome analysis by G-banding, spectral karyotyping analysis, and dual-color fluorescence in situ hybridization showed this abnormality as 46,XY,del(6)(p23),add(p15). ish del(6)(NUP98−,D6Z1+),der(7)(NUP98+,D7Z1+),der(11)(NUP98+,D11Z1). A split signal of NUP98 was observed in 68.4% of the 117 cells analyzed, which clearly indicated that the NUP98 partially translocated to chromosome 7. However, the potential fusion partner of the NUP98 was not HOX family or DEK. The fusion gene has not been found by a differential display method. The significance of simultaneously combined del(6)(p23), which also has been reported with secondary leukemogenesis, has not been elucidated. Additional karyotype abnormalities evolved increasingly, and leukocytosis with blasts with more complex karyotypic abnormalities appeared 5 months later. Careful and continuous analysis of karyotype change clarified the process of the clonal evolution after NUP98 translocation. Further investigation of molecular characterization of this NUP98 translocation and interaction with 6p23 abnormalities might be worthwhile for understanding leukemogenesis.
