Clonal evolution from trisomy into tetrasomy of chromosome 8 associated with the development of acute myeloid leukemia from myelodysplastic syndrome

Junichi Kameoka, Tadao Funato, Yasuhiko Obara, Ikuko Kadowaki, Hisayuki Yokoyama, Tomofumi Kimura, Yasuo Tomiya, Minami Yamada, Izumi Ishikawa, Masanori Takagawa, Osamu Sasaki, Jun Kimura, Hideo Harigae, Ikuo Miura, Kuniaki Meguro, Mitsuo Kaku, Takeshi Sasaki

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)159-164
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume124
Issue number2
DOIs
Publication statusPublished - 2001 Jan 15

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research

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