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European Journal of Pediatrics

, Volume 174, Issue 4, pp 525–531 | Cite as

Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children

  • Rintaro Ono
  • Daisuke HasegawaEmail author
  • Shinsuke Hirabayashi
  • Takahiro Kamiya
  • Kenichi Yoshida
  • Satoko Yonekawa
  • Chitose Ogawa
  • Ryota Hosoya
  • Tsutomu Toki
  • Kiminori Terui
  • Etsuro Ito
  • Atsushi Manabe
Original Article

Abstract

GATA1 mutations are found almost exclusively in children with myeloid proliferations related to Down syndrome (DS). Here, we report two phenotypically and cytogenetically normal children with acute megakaryoblastic leukemia (AMKL) whose blasts had both acquired trisomy 21 and GATA1 mutation. Patient 1 was diagnosed with transient abnormal myelopoiesis in the neonatal period. Following spontaneous improvement of the disease, leukemic blasts increased 7 months later. He received less intensive chemotherapy, and he is now 6 years old in complete remission. Patient 2 was diagnosed with AMKL at the age of 18 months. Although he received intensive chemotherapy and a cord blood transplantation, he died without gaining remission. In both cases, trisomy 21 and GATA1 mutation were detected only in leukemic blasts, but not in germline samples. Based on a literature review, we identified reports describing 14 non-DS AMKL with GATA1 mutation and acquired trisomy 21. Of those, 12 cases were diagnosed during the neonatal period, whereas the remaining 2 cases were diagnosed at the age of 22 and 31 months, respectively.

Conclusion: These cases suggest that GATA1 mutation may cooperate with the additional chromosome 21 in developing myeloid proliferations even in non-DS patients.

Keywords

GATA1 Acute megakaryoblastic leukemia Trisomy 21 Transient abnormal myelopoiesis 

Abbreviations

AMKL

Acute megakaryoblastic leukemia

BMA

Bone marrow aspiration

CBC

Complete blood count

CBT

Cord blood transplantation

DS

Down syndrome

FCM

Flow cytometry

FISH

Fluorescent in situ hybridization

ML-DS

Myeloid leukemia associated with DS

PB

Peripheral blood

PHA

Phytohemagglutinin

TAM

Transient abnormal myelopoiesis

UPN

Unique patient number

WHO

World Health Organization

Notes

Conflict of interest

There are no conflicts of interest to report.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Rintaro Ono
    • 1
  • Daisuke Hasegawa
    • 1
    Email author
  • Shinsuke Hirabayashi
    • 1
  • Takahiro Kamiya
    • 1
    • 2
  • Kenichi Yoshida
    • 1
  • Satoko Yonekawa
    • 1
  • Chitose Ogawa
    • 1
    • 3
  • Ryota Hosoya
    • 1
  • Tsutomu Toki
    • 4
  • Kiminori Terui
    • 4
  • Etsuro Ito
    • 4
  • Atsushi Manabe
    • 1
  1. 1.Department of PediatricsSt. Luke’s International HospitalTokyoJapan
  2. 2.Department of PediatricsNational University of SingaporeSingaporeSingapore
  3. 3.Department of Pediatric OncologyNational Cancer Center HospitalTokyoJapan
  4. 4.Department of PediatricsHirosaki University Graduate School of MedicineHirosakiJapan

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