Acute megakaryoblastic leukemia in Down syndrome | Zendy

Hitzler Johann K. | Zendy

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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

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.

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