Article
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Nature communications - 26 Feb 2021
Kennedy Alyssa L, Myers Kasiani C, Bowman James, Gibson Christopher J, Camarda Nicholas D, Furutani Elissa, Muscato Gwen M, Klein Robert H, Ballotti Kaitlyn, Liu Shanshan, Harris Chad E, Galvin Ashley, Malsch Maggie, Dale David, Gansner John M, Nakano Taizo A, Bertuch Alison, Vlachos Adrianna, Lipton Jeffrey M, Castillo Paul, Connelly James, Churpek Jane, Edwards John R, Hijiya Nobuko, Ho Richard H, Hofmann Inga, Huang James N, Keel Siobán, Lamble Adam, Lau Bonnie W, Norkin Maxim, Stieglitz Elliot, Stock Wendy, Walkovich Kelly, Boettcher Steffen, Brendel Christian, Fleming Mark D, Davies Stella M, Weller Edie A, Bahl Christopher, Carter Scott L, Shimamura Akiko, Lindsley R Coleman
Abstract excerpt
To understand the mechanisms that mediate germline genetic leukemia predisposition, we studied the inherited ribosomopathy Shwachman-Diamond syndrome (SDS), a bone marrow failure disorder with high risk of myeloid malignancies at an early age. To define the mechanistic basis of clonal hematopoiesis in SDS, we investigate somatic mutations acquired by patients with SDS followed longitudinally. Here we report that...
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