Author/Authors :
Kameoka، نويسنده , , Junichi and Funato، نويسنده , , Tadao and Obara، نويسنده , , Yasuhiko and Kadowaki، نويسنده , , Ikuko and Yokoyama، نويسنده , , Hisayuki and Kimura، نويسنده , , Tomofumi and Tomiya، نويسنده , , Yasuo and Yamada، نويسنده , , Minami and Ishikawa، نويسنده , , Izumi and Takagawa، نويسنده , , Masanori and Sasaki، نويسنده , , Osamu S. Kimura، نويسنده , , Jun and Harigae، نويسنده , , Hideo and، نويسنده ,
Abstract :
Tetrasomy 8, though rare, is usually associated with trisomy 8, a far more common chromosomal abnormality in acute myeloid leukemia (AML). Yet the clonal relationship between trisomy 8 and tetrasomy 8 in the cases with these chromosomal abnormalities has been unclear. Here, we report a case of a 17-year-old male, diagnosed as having a myelodysplastic syndrome (MDS). Chromosome analysis showed the presence of trisomy 8. Five years later, he developed overt AML exhibiting tetrasomy 8 only. After chemotherapy, the blast cells in the bone marrow decreased to 3.4%, and the karyotype showed trisomy 8 alone. Fluorescence in situ hybridization using a probe specific for chromosome 8 showed that the percentages of cells exhibiting 2/ 3 /4 signals were 7.8/89.2/2.0 at the MDS stage, 20.5/36.1/41.0 when overt AML developed and 24.0/72.1/2.4 after chemotherapy. These results suggested that tetrasomy 8 is derived from the AML clone, possibly evolved from the MDS clone with trisomy 8. To our knowledge, this is the first detailed case report of clonal evolution from trisomy 8 into tetrasomy 8 associated with the development of AML from MDS.
