Transient myeloproliferative disorder with partial trisomy 21

• Published in: Pediatric blood & cancer Vol. 62; no. 11; pp. 2021 - 2024
• Main Authors: Takahashi, Takahide, Inoue, Akira, Yoshimoto, Junko, Kanamitsu, Kiichiro, Taki, Tomohiko, Imada, Masahide, Yamada, Mutsuko, Ninomiya, Shinsuke, Toki, Tsutomu, Terui, Kiminori, Ito, Etsuro, Shimada, Akira
• Format: Journal Article
• Language: English
• Published: United States Blackwell Publishing Ltd 01-11-2015; Wiley Subscription Services, Inc
• Subjects: Cancer; Chromosome 21; Chromosomes, Human, Pair 21 - genetics; Down syndrome; Down Syndrome - complications; Down Syndrome - genetics; Down's syndrome; Dyrk Kinases; Female; GATA-1 protein; GATA1; GATA1 Transcription Factor - genetics; Genes; Hematology; Humans; Infant; Leukemogenesis; Malignancy; Mutation; Myeloproliferative diseases; Myeloproliferative Disorders - complications; Myeloproliferative Disorders - genetics; Oncology; partial trisomy 21; Pediatrics; Polymorphism, Single Nucleotide; Protein Serine-Threonine Kinases - genetics; Protein-Tyrosine Kinases - genetics; Proto-Oncogene Proteins c-ets - genetics; Runx1 protein; Single-nucleotide polymorphism; Trans-Activators - genetics; Transcriptional Regulator ERG; transient myeloproliferative disorder; Trisomy; transient myeloproliferative disorder; Down syndrome; partial trisomy 21; GATA1
• ISSN: 1545-5009; 1545-5017
• DOI: 10.1002/pbc.25624

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.