Mechanisms of progression of myeloid preleukemia to transformed myeloid leukemia in children with Down syndrome

Labuhn, M; Perkins, K; Matzk, S; Varghese, L; Garnett, C; Papaemmanuil, E; Metzner, M; Kennedy, A; Amstislavskiy, V; Risch, T; Bhayadia, R; Samulowski, D; Hernandez, D; Stoilova, B; Iotchkova, V; Oppermann, U; Scheer, C; Yoshida, K; Schwarzer, A; Taub, J; Crispino, J; Weiss, M; Hayashi, A; Taga, T; Ito, E; Ogawa, S; Reinhardt, D; Yaspo, M; Campbell, P; Roberts, I; Constantinescu, S; Vyas, P; Heckl, D; Klusmann, J

Abstract:

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 contrast, in ML-DS, clonal and subclonal variants are functionally required. We identifi...

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Published

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Peer reviewed

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APA Style

Labuhn, M., Perkins, K., Matzk, S., Varghese, L., Garnett, C., Papaemmanuil, E., Metzner, M., Kennedy, A., Amstislavskiy, V., Risch, T., Bhayadia, R., Samulowski, D., Hernandez, D., Stoilova, B., Iotchkova, V., Oppermann, U., Scheer, C., Yoshida, K., Schwarzer, A., … Klusmann, J. Mechanisms of progression of myeloid preleukemia to transformed myeloid leukemia in children with Down syndrome. Cancer Cell, 36(2), 123–138.e10.

MLA Style

Labuhn, M., et al. “Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.” Cancer Cell, vol. 36, no. 2, Cancer Cell, pp. 123–38.e10.

Chicago Style

Labuhn, M, K Perkins, S Matzk, L Varghese, C Garnett, E Papaemmanuil, M Metzner, et al. n.d. “Mechanisms of Progression of Myeloid Preleukemia to Transformed Myeloid Leukemia in Children with Down Syndrome.” Cancer Cell 36 (2): 123–38.e10.
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