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Two Independent Clones in Myelodysplastic Syndrome Following Treatment of Acute Myeloid Leukemia


We describe a 55-year-old Japanese woman with therapy-related myelodysplastic syndrome (t-MDS) with 2 independent clones, t(1;2)(p36;p21) and t(11;12)(p15;q13). She was diagnosed with acute myeloid leukemia (AML) with cytological features of the bone marrow and peripheral blood. Cytogenetic evaluation revealed a 46,XX karyotype. She received chemotherapy and achieved complete remission (CR). Despite maintenance chemotherapy, she suffered a relapse. Chromosomal analysis showed t(1;2)(p36;p21) in 2 of 20 metaphases. At second CR, this clone transiently disappeared. Nine months later, t(1;2) (p36;p21) was detected again in 3 of 20 metaphases while the patient remained in CR. Six months later, bone marrow examination disclosed trilineage dysplasia without an excess of blasts, suggesting MDS. t(1;2)(p36;p21) was observed in 16 of 20 metaphases. The clinical course and serial cytogenetic findings were diagnostic of t-MDS. The duration of t-MDS was 6 years. During this period, persistent t(1;2)(p36;p21) and transient t(11;12)(p15;q13) were found.When t-MDS evolved to AML, cytogenetic evaluation revealed 46,XX,t(1;2)(p36;p21),del(7)(q22),add(19)(p13).

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Correspondence to Masahiro Masuya or Naoyuki Katayama or Koichi Inagaki or Hiroshi Miwa or Natsuki Hoshino or Hiroyuki Miyashita or Hirohito Suzuki or Hiroto Araki or Hidetsugu Mitani or Kazuhiro Nishii or Shin-ichi Kageyama or Nobuyuki Minami or Hiroshi Shiku.

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Masuya, M., Katayama, N., Inagaki, K. et al. Two Independent Clones in Myelodysplastic Syndrome Following Treatment of Acute Myeloid Leukemia. Int J Hematol 75, 182–186 (2002).

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Key words

  • Therapy-related MDS
  • Therapy-related AML
  • t(1,2)
  • t(11,12)
  • del(7)(q22)