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Transient myeloproliferative disorder with partial trisomy 21
Author(s) -
Takahashi Takahide,
Inoue Akira,
Yoshimoto Junko,
Kanamitsu Kiichiro,
Taki Tomohiko,
Imada Masahide,
Yamada Mutsuko,
Ninomiya Shinsuke,
Toki Tsutomu,
Terui Kiminori,
Ito Etsuro,
Shimada Akira
Publication year - 2015
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.25624
Subject(s) - gata1 , trisomy , down syndrome , chromosome 21 , medicine , chromosomal translocation , runx1 , genetics , snp array , gene , cancer research , chromosome , biology , genotype , single nucleotide polymorphism , gene expression , transcription factor
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 10 Mb 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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.