Premium
Acute megakaryoblastic leukemia in Down syndrome
Author(s) -
Hitzler Johann K.
Publication year - 2007
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.21353
Subject(s) - acute megakaryoblastic leukemia , gata1 , down syndrome , medicine , leukemia , phenotype , acute leukemia , somatic cell , immunology , blood cancer , disease , cancer research , cancer , genetics , gene , biology , anemia , erythropoiesis , psychiatry
Abstract Children with Down syndrome (DS) have a 10‐ to 20‐fold increased risk of developing acute leukemia. An estimated 10% of newborns with DS develop Transient Myeloproliferative Disease (TMD) or Transient Leukemia (TL), a clonal accumulation of megakaryoblasts that resolves spontaneously within months. Acute megakaryoblastic leukemia (AMKL) develops in approximately 20% of cases of TMD/TL by 4 years of age. Both the blasts of AMKL and TMD/TL in DS harbor somatic mutations of GATA1 , an essential transcriptional regulator of megakaryocytic differentiation. The distinct phenotypes of megakaryoblastic leukemia in DS are a unique biological model of the incremental process of leukemic transformation. Pediatr Blood Cancer 2007;49:1066–1069. © 2007 Wiley‐Liss, Inc.