title: Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome.
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.
authors.affiliation: The Department of Rheumatology and Hematology, Tohoku University School of Medicine, 1-1, Seiryo, Aoba-ku, Sendai, Miyagi 980-8574, Japan. jkame@gonryo.med.tohoku.ac.jp
authors.forename: J
authors.initials: J
authors.lastname: Kameoka
authors.forename: T
authors.initials: T
authors.lastname: Funato
authors.forename: Y
authors.initials: Y
authors.lastname: Obara
authors.forename: I
authors.initials: I
authors.lastname: Kadowaki
authors.forename: H
authors.initials: H
authors.lastname: Yokoyama
authors.forename: T
authors.initials: T
authors.lastname: Kimura
authors.forename: Y
authors.initials: Y
authors.lastname: Tomiya
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: I
authors.initials: I
authors.lastname: Ishikawa
authors.forename: M
authors.initials: M
authors.lastname: Takagawa
authors.forename: O
authors.initials: O
authors.lastname: Sasaki
authors.forename: J
authors.initials: J
authors.lastname: Kimura
authors.forename: H
authors.initials: H
authors.lastname: Harigae
authors.forename: I
authors.initials: I
authors.lastname: Miura
authors.forename: K
authors.initials: K
authors.lastname: Meguro
authors.forename: M
authors.initials: M
authors.lastname: Kaku
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
mesh_terms: D000293:Adolescent; D000782:Aneuploidy; D002999:Clone Cells; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D008297:Male; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000235:genetics*; D014314:Trisomy