Article
Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.
Cancer cell - 12 Aug 2019
Labuhn Maurice, Perkins Kelly, Matzk Sören, Varghese Leila, Garnett Catherine, Papaemmanuil Elli, Metzner Marlen, Kennedy Alison, Amstislavskiy Vyacheslav, Risch Thomas, Bhayadia Raj, Samulowski David, Hernandez David Cruz, Stoilova Bilyana, Iotchkova Valentina, Oppermann Udo, Scheer Carina, Yoshida Kenichi, Schwarzer Adrian, Taub Jeffrey W, Crispino John D, Weiss Mitchell J, Hayashi Yasuhide, Taga Takashi, Ito Etsuro, Ogawa Seishi, Reinhardt Dirk, Yaspo Marie-Laure, Campbell Peter J, Roberts Irene, Constantinescu Stefan N, Vyas Paresh, Heckl Dirk, Klusmann Jan-Henning
Abstract excerpt
Myeloid leukemia in Down syndrome (ML-DS) clonally evolves from transient abnormal myelopoiesis (TAM), a preleukemic condition in DS newborns. To define mechanisms of leukemic transformation, we combined exome and targeted resequencing of 111 TAM and 141 ML-DS samples with functional analyses. TAM requires trisomy 21 and truncating mutations in GATA1; additional TAM variants are usually not pathogenic. By...
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