Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder
- PMID: 12747884
- DOI: 10.1016/S0140-6736(03)13266-7
Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder
Abstract
Transient myeloid disorder is a unique self-regressing neoplasia specific to Down's syndrome. The transcription factor GATA1 is needed for normal growth and maturation of erythroid cells and megakaryocytes. Mutations in GATA1 have been reported in acute megakaryoblastic leukaemia in Down's syndrome. We aimed to investigate changes in GATA1 in patients with Down's syndrome and either transient myeloid disorder (n=10) or acute megakaryoblastic leukaemia (n=6). We recorded mutations eliminating exon 2 from GATA1 in all patients with transient myeloid disorder (age 0-24 days) and in all with acute megakaryoblastic leukaemia (age 14-38 months). The range of mutations did not differ between patients with each disorder. Patients with transient myeloid disorder with mutations in GATA1 can regress spontaneously to complete remission, and mutations do not necessarily predict later acute megakaryoblastic leukaemia.
Similar articles
-
Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21.Blood. 2003 Aug 1;102(3):981-6. doi: 10.1182/blood-2002-11-3599. Epub 2003 Mar 20. Blood. 2003. PMID: 12649131
-
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.Lancet. 2008 Oct 25;372(9648):1484-92. doi: 10.1016/S0140-6736(08)61341-0. Epub 2008 Sep 19. Lancet. 2008. PMID: 18805579
-
Expression of erythroid-specific genes in acute megakaryoblastic leukaemia and transient myeloproliferative disorder in Down's syndrome.Br J Haematol. 1995 Jul;90(3):607-14. doi: 10.1111/j.1365-2141.1995.tb05591.x. Br J Haematol. 1995. PMID: 7647001
-
Recent insights into the mechanisms of myeloid leukemogenesis in Down syndrome.Blood. 2004 Jan 15;103(2):399-406. doi: 10.1182/blood-2003-05-1556. Epub 2003 Sep 25. Blood. 2004. PMID: 14512321 Review.
-
Origins of leukaemia in children with Down syndrome.Nat Rev Cancer. 2005 Jan;5(1):11-20. doi: 10.1038/nrc1525. Nat Rev Cancer. 2005. PMID: 15630411 Review.
Cited by
-
GATA1 mutations in a cohort of Malaysian children with Down syndrome-associated myeloid disorder.Singapore Med J. 2016 Jun;57(6):320-4. doi: 10.11622/smedj.2016106. Singapore Med J. 2016. PMID: 27353457 Free PMC article.
-
Myeloid leukemia in Down syndrome.Crit Rev Oncog. 2011;16(1-2):25-36. doi: 10.1615/critrevoncog.v16.i1-2.40. Crit Rev Oncog. 2011. PMID: 22150305 Free PMC article. Review.
-
Distinct clones are associated with the development of transient myeloproliferative disorder and acute megakaryocytic leukemia in a patient with Down syndrome.Int J Hematol. 2007 Oct;86(3):250-2. doi: 10.1532/IJH97.07058. Int J Hematol. 2007. PMID: 17988992
-
Haematology of Down syndrome.Arch Dis Child Fetal Neonatal Ed. 2007 Nov;92(6):F503-7. doi: 10.1136/adc.2006.104638. Epub 2007 Sep 5. Arch Dis Child Fetal Neonatal Ed. 2007. PMID: 17804520 Free PMC article. Review.
-
The emerging role of GATA transcription factors in development and disease.Expert Rev Mol Med. 2016 Mar 8;18:e3. doi: 10.1017/erm.2016.2. Expert Rev Mol Med. 2016. PMID: 26953528 Free PMC article. Review.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
