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Mutational hierarchies in myelodysplastic syndromes
dynamically adapt and evolve upon therapy response and
failure
by Maximilian Mossner, Johann-Christoph Jann, Janina Wittig, Florian Nolte,
Stephanie Fey, Verena Nowak, Julia Obländer, Jovita Pressler, Iris Palme, Christina
Xanthopoulos, Tobias Boch, Georgia Metzgeroth, Henning Röhl, Stephanie H. Witt,
Helene Dukal, Corinna Klein, Steffen Schmitt, Patrick Gelß, Uwe Platzbecker,
Ekaterina Balaian, Alice Fabarius, Helmut Blum, Torsten J. Schulze, Manja
Meggendorfer, Claudia Haferlach, Andreas Trumpp, Wolf-Karsten Hofmann, Hind
Medyouf, and Daniel Nowak
Blood
Volume 128(9):1246-1259
September 1, 2016
©2016 by American Society of Hematology
High-throughput genomic analysis using array- and sequencing-based methods.
Maximilian Mossner et al. Blood 2016;128:1246-1259
©2016 by American Society of Hematology
Molecular dissection of mutational hierarchies using an integrative multisample screening
approach.
Maximilian Mossner et al. Blood 2016;128:1246-1259
©2016 by American Society of Hematology
Reconstruction of mutational hierarchies in MDS reveals recurrent patterns of molecular
evolution with distinct disease-initiating events.
Maximilian Mossner et al. Blood 2016;128:1246-1259
©2016 by American Society of Hematology
Branched evolution is a frequent route of clonal progression following treatment with LEN. (A)
Mutational profiling of primary BM from P45 before and during LEN treatment reveals loss of
subclonal lesions (DNMT3A/ATM/del(5q)) but stable maintenance of a mut...
Maximilian Mossner et al. Blood 2016;128:1246-1259
©2016 by American Society of Hematology
Changes in clonal composition in BM are reflected in clinical alterations and course of the
disease.
Maximilian Mossner et al. Blood 2016;128:1246-1259
©2016 by American Society of Hematology
Changes in VAF are significantly increased during treatment and clinical change as compared
with stable disease.
Maximilian Mossner et al. Blood 2016;128:1246-1259
©2016 by American Society of Hematology
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