3 results match your criteria Myeloid Proliferations Related to Down Syndrome

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Acute megakaryoblastic leukemia with acquired trisomy 21 and GATA1 mutations in phenotypically normal children.

Eur J Pediatr 2015 Apr 30;174(4):525-31. Epub 2014 Sep 30.

Department of Pediatrics, St. Luke's International Hospital, 9-1, Akashi-cho, Chuo-ku, Tokyo, 104-8560, Japan,

Unlabelled: GATA1 mutations are found almost exclusively in children with myeloid proliferations related to Down syndrome (DS). Here, we report two phenotypically and cytogenetically normal children with acute megakaryoblastic leukemia (AMKL) whose blasts had both acquired trisomy 21 and GATA1 mutation. Patient 1 was diagnosed with transient abnormal myelopoiesis in the neonatal period. Read More

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http://jco.ascopubs.org/content/29/9/e230.full.pdf
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http://link.springer.com/10.1007/s00431-014-2430-3
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http://dx.doi.org/10.1007/s00431-014-2430-3DOI Listing
April 2015
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New classification of acute myeloid leukemia and precursor-related neoplasms: changes and unsolved issues.

Discov Med 2010 Oct;10(53):281-92

Institute of Hematology, University of Perugia, Perugia, Italy.

The World Health Organization (WHO) classification of lympho-hematopoietic neoplasms is increasingly based on genetic criteria. Here, we focus on changes that, as compared to the 2001 edition, were introduced into the 2008 WHO classification of acute myeloid leukemia (AML) and related precursor neoplasms. The category of AML with recurrent genetic abnormalities was expanded to account for 60% of AML by adding three distinct entities, i. Read More

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October 2010
24 Reads

Changed concepts and definitions of myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS) and myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in the updated 2008 WHO classification.

J Hematop 2009 Sep 26;2(4):205-10. Epub 2009 Sep 26.

The purpose of this overview is to discuss the changes in the 2008 WHO classification of myeloid neoplasms, with exclusion of acute myeloid leukaemia. Specific mutations or rearrangements leading to constitutive activation of growth factor receptors or cytoplasmic tyrosine kinases are now recognised as recurrent genetic events characterising the group of myeloproliferative neoplasms (MPN). A newly introduced subgroup consists of patients with persistent eosinophilia and myeloid or lymphoid proliferations harbouring specific genetic changes involving platelet-derived growth factor receptors alpha and beta (PDGFRA and PDGFRB) or fibroblast growth factor receptor 1 (FGFR1). Read More

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http://dx.doi.org/10.1007/s12308-009-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2798935PMC
September 2009
12 Reads
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