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International Journal of Hematology

, Volume 92, Issue 2, pp 386–390 | Cite as

Ring/marker chromosome derived from chromosome 7 in childhood acute megakaryoblastic leukemia with monosomy 7

  • Hisanori Fujino
  • Naoto Fujita
  • Kazuko Hamamoto
  • Satoshi Oobu
  • Makoto Kita
  • Atsushi Tanaka
  • Hiroshi Matsubara
  • Ken-ichiro Watanabe
  • Toshio Heike
  • Souichi AdachiEmail author
Case Report

Abstract

In some cases of childhood acute megakaryoblastic leukemia (AMKL), G-band analysis reveals supernumerary ring/marker chromosomes along with monosomy 7. However, their origin and relevance are poorly understood. We experienced three patients with AMKL, one of whom had Down’s syndrome, whose blasts at the first visit exhibited both monosomy 7 and a ring/marker chromosome. For one case, precise molecular-cytogenetic techniques revealed that the ring chromosome was derived from a chromosome 7. It was strongly suggested that the ring chromosome was derived from a chromosome 7 in another case. The ring or one of the 2 marker chromosomes was derived from a chromosome 7 in the other case. All patients responded well to initial induction therapy. While it is not clear whether the ring/marker chromosome 7 affects the long-term prognosis of acute myeloid leukemia with monosomy 7, it may be of prognostic relevance to distinguish pure monosomy 7 from monosomy 7 with a ring/marker chromosome 7. For this purpose, conventional G-banding could be complemented with additional techniques such as spectral karyotyping or fluorescence in situ hybridization, which characterize the aberration in more detail. These methods may be useful for determining the optimal treatment and for elucidating the etiology of AMKL itself.

Keywords

Monosomy 7 Spectral karyotyping Fluorescence in situ hybridization 

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Copyright information

© The Japanese Society of Hematology 2010

Authors and Affiliations

  • Hisanori Fujino
    • 1
  • Naoto Fujita
    • 2
  • Kazuko Hamamoto
    • 2
  • Satoshi Oobu
    • 1
  • Makoto Kita
    • 1
  • Atsushi Tanaka
    • 1
  • Hiroshi Matsubara
    • 1
  • Ken-ichiro Watanabe
    • 1
  • Toshio Heike
    • 1
  • Souichi Adachi
    • 1
    • 3
    Email author
  1. 1.Department of Pediatrics, Graduate School of MedicineKyoto UniversityKyotoJapan
  2. 2.Department of PediatricsHiroshima Red Cross Hospital & Atomic-Bomb Survivors HospitalHiroshimaJapan
  3. 3.School of Health Sciences, Faculty of MedicineKyoto UniversityKyotoJapan

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