Transient myeloproliferative disorder with partial trisomy 21

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

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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
Volume62
Issue number11
DOIs
Publication statusPublished - Nov 1 2015

Fingerprint

Myeloproliferative Disorders
Trisomy
Down Syndrome
Genes
Chromosomes, Human, Pair 21
Neoplasms
Mutation
Single Nucleotide Polymorphism

Keywords

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

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Medicine(all)

Cite this

Transient myeloproliferative disorder with partial trisomy 21. / Takahashi, Takahide; Inoue, Akira; Yoshimoto, Junko; Kanamitsu, Kiichiro; Taki, Tomohiko; Imada, Masahide; Yamada, Mutsuko; Ninomiya, Shinsuke; Toki, Tsutomu; Terui, Kiminori; Ito, Etsuro; Shimada, Akira.

In: Pediatric Blood and Cancer, Vol. 62, No. 11, 01.11.2015, p. 2021-2024.

Research output: Contribution to journalArticle

Takahashi, T, Inoue, A, Yoshimoto, J, Kanamitsu, K, Taki, T, Imada, M, Yamada, M, Ninomiya, S, Toki, T, Terui, K, Ito, E & Shimada, A 2015, 'Transient myeloproliferative disorder with partial trisomy 21', Pediatric Blood and Cancer, vol. 62, no. 11, pp. 2021-2024. https://doi.org/10.1002/pbc.25624
Takahashi T, Inoue A, Yoshimoto J, Kanamitsu K, Taki T, Imada M et al. Transient myeloproliferative disorder with partial trisomy 21. Pediatric Blood and Cancer. 2015 Nov 1;62(11):2021-2024. https://doi.org/10.1002/pbc.25624
Takahashi, Takahide ; Inoue, Akira ; Yoshimoto, Junko ; Kanamitsu, Kiichiro ; Taki, Tomohiko ; Imada, Masahide ; Yamada, Mutsuko ; Ninomiya, Shinsuke ; Toki, Tsutomu ; Terui, Kiminori ; Ito, Etsuro ; Shimada, Akira. / Transient myeloproliferative disorder with partial trisomy 21. In: Pediatric Blood and Cancer. 2015 ; Vol. 62, No. 11. pp. 2021-2024.
@article{dde0b0f60fcd44ba942bd6aa826e8511,
title = "Transient myeloproliferative disorder with partial trisomy 21",
abstract = "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.",
keywords = "Down syndrome, GATA1, Partial trisomy 21, Transient myeloproliferative disorder",
author = "Takahide Takahashi and Akira Inoue and Junko Yoshimoto and Kiichiro Kanamitsu and Tomohiko Taki and Masahide Imada and Mutsuko Yamada and Shinsuke Ninomiya and Tsutomu Toki and Kiminori Terui and Etsuro Ito and Akira Shimada",
year = "2015",
month = "11",
day = "1",
doi = "10.1002/pbc.25624",
language = "English",
volume = "62",
pages = "2021--2024",
journal = "Pediatric Blood and Cancer",
issn = "1545-5009",
publisher = "Wiley-Liss Inc.",
number = "11",

}

TY - JOUR

T1 - Transient myeloproliferative disorder with partial trisomy 21

AU - Takahashi, Takahide

AU - Inoue, Akira

AU - Yoshimoto, Junko

AU - Kanamitsu, Kiichiro

AU - Taki, Tomohiko

AU - Imada, Masahide

AU - Yamada, Mutsuko

AU - Ninomiya, Shinsuke

AU - Toki, Tsutomu

AU - Terui, Kiminori

AU - Ito, Etsuro

AU - Shimada, Akira

PY - 2015/11/1

Y1 - 2015/11/1

N2 - 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.

AB - 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.

KW - Down syndrome

KW - GATA1

KW - Partial trisomy 21

KW - Transient myeloproliferative disorder

UR - http://www.scopus.com/inward/record.url?scp=84942194137&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84942194137&partnerID=8YFLogxK

U2 - 10.1002/pbc.25624

DO - 10.1002/pbc.25624

M3 - Article

VL - 62

SP - 2021

EP - 2024

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

SN - 1545-5009

IS - 11

ER -