Transient myeloproliferative disorder with partial trisomy 21

Takahide Takahashi, Akira Inoue, Junko Yoshimoto, Kiichiro Kanemitsu, Tomohiko Taki, Masahide Imada, Mutsuko Yamada, Shinsuke Ninomiya, Tsutomu Toki, Kiminori Terui, Etsuro Ito, Akira Shimada

Research output: Contribution to journalArticlepeer-review

5 Citations (Scopus)


Myeloid malignancy with Down syndrome (ML-DS) is estimated to have a step-wise leukemogenesis including GATA1 mutation. Trisomy 21 is essential for ML-DS; however, we do not know exactly which gene or genes located on chromosome 21 are necessary for the ML-DS. We report a female infant with transient myeloproliferative disorder (TMD) and partial trisomy 21. SNP array analysis showed 10Mb amplification of 21q22.12-21q22.3, which included DYRK1A, ERG, and ETS but not the RUNX1 gene. With two other reported TMD cases having partial trisomy 21, DYRK1A, ERG, and ETS were the most likely genes involved in collaboration with the GATA1 mutation.

Original languageEnglish
Pages (from-to)2021-2024
Number of pages4
JournalPediatric Blood and Cancer
Issue number11
Publication statusPublished - Nov 1 2015


  • Down syndrome
  • GATA1
  • Partial trisomy 21
  • Transient myeloproliferative disorder

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology


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