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

doi:10.1002/pbc.25624

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

University Hospital

Research output: Contribution to journal › Article › peer-review

5 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 language	English
Pages (from-to)	2021-2024
Number of pages	4
Journal	Pediatric Blood and Cancer
Volume	62
Issue number	11
DOIs	https://doi.org/10.1002/pbc.25624
Publication status	Published - Nov 1 2015

Keywords

Down syndrome
GATA1
Partial trisomy 21
Transient myeloproliferative disorder

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.25624

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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.",

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T1 - Transient myeloproliferative disorder with partial trisomy 21

AU - Takahashi, Takahide

AU - Inoue, Akira

AU - Yoshimoto, Junko

AU - Kanemitsu, 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

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SN - 1545-5009

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JO - Pediatric Blood and Cancer

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Transient myeloproliferative disorder with partial trisomy 21

Abstract

Keywords

ASJC Scopus subject areas

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