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Down Syndrome
Markers distinguishing TMD and AMKL identified
August 6th, 2004
Genetic markers to distinguish transient myeloproliferative disorder (TMD) and acute megakaryoblastic leukemia (AMKL) have been identified in Down syndrome (DS) patients. TMD is "a unique, spontaneously regressing neoplasia" specific to DS patients, "affecting up to 10% of DS neonates," hematologists in England explained. "In 20-30% of cases, it reoccurs" as AMKL "at 2-4 years of age." "The TMD and AMKL blasts are morphologically and immunophenotypically identical, and have the same acquired mutations in GATA1," noted S. McElwaine and colleagues at the University of London. In a recent study, they "performed transcript profiling of nine TMD...
Source: Genomics & Genetics Weekly (2004-08-06)
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