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 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.
authors.affiliation: Division of Medical Support, Okayama University Hospital, Okayama, Japan.
authors.forename: Takahide
authors.initials: T
authors.lastname: Takahashi
authors.affiliation: Department of Chemical Biology and Therapeutics, St. Jude Children's Research Hospital, Memphis, Tennessee.
authors.forename: Akira
authors.initials: A
authors.lastname: Inoue
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Yoshimoto
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Kiichiro
authors.initials: K
authors.lastname: Kanamitsu
authors.affiliation: Department of Molecular Diagnostics and Therapeutics, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan.
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.affiliation: Division of Medical Support, Okayama University Hospital, Okayama, Japan.
authors.forename: Masahide
authors.initials: M
authors.lastname: Imada
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Mutsuko
authors.initials: M
authors.lastname: Yamada
authors.affiliation: Department of Clinical Genetics, Kurashiki Central Hospital, Kurashiki, Japan.
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Ninomiya
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Toki
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Kiminori
authors.initials: K
authors.lastname: Terui
authors.affiliation: Department of Pediatrics, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
authors.forename: Etsuro
authors.initials: E
authors.lastname: Ito
authors.affiliation: Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Shimada
mesh_terms: D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D050982:GATA1 Transcription Factor / Q000235:genetics; D006801:Humans; D007223:Infant; D009196:Myeloproliferative Disorders / Q000150:complications / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics; D000071230:Transcriptional Regulator ERG; D000097603:Dyrk Kinases
chemical_list: D050982:GATA1 Transcription Factor; D017346:Protein Serine-Threonine Kinases; D011505:Protein-Tyrosine Kinases; D050783:Proto-Oncogene Proteins c-ets; D015534:Trans-Activators; D000071230:Transcriptional Regulator ERG; D000097603:Dyrk Kinases; C072312:ERG protein, human; C494688:GATA1 protein, human
keywords: Down syndrome; GATA1; partial trisomy 21; transient myeloproliferative disorder