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Aino-Maija Leppä: Exploring intra-tumor heterogeneity in complex karyotype AML
Nov 27, 2024, 18:52

Aino-Maija Leppä: Exploring intra-tumor heterogeneity in complex karyotype AML

Aino-Maija Leppä, Postdoctoral Fellow at DKFZ German Cancer Research Center, shared on X:

“Extremely proud to see my PhD project exploring intra-tumor heterogeneity in complex karyotype AML finally out in Nature Genetics.

They say that 10,000 hours make you an expert, so I guess after more than five years of work I’m half-way there.

Aino-Maija Leppä

We integrated single-cell resolution structural variants, nucleosome occupancy, gene expression and surface proteins to study subclonal growth patterns in complex karyotype AML patient samples.

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For example, in one patient the subclone driving relapse had a seismic amplification, upregulated DNA damage response and it also engrafted in mice. We could even see cell-to-cell differences in the copy-number states of the seismic amplification!

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In another patient with paired pre- and post-treatment samples, two distinct subclones persisted post venetoclax-based treatment. Both had subclone-specific mechanisms to further resistance: a shift toward MEP-like cells and NF1 loss. Go and read more about the other cases!

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I’m very thankful to everyone involved in the study! The project would not have been possible without my co-firsts, Karen Grimes and Hyobin Jeong and co-lasts Andreas Trumpp, Jan Korbel and Ashley D Sanders.”

Single-cell multiomics analysis reveals dynamic clonal evolution and targetable phenotypes in acute myeloid leukemia with complex karyotype

Authors: Aino-Maija Leppä, Karen Grimes, Hyobin Jeong, Frank Y. Huang, Alvaro Andrades, Alexander Waclawiczek, Tobias Boch, Anna Jauch, Simon Renders, Patrick Stelmach, Carsten Müller-Tidow, Darja Karpova, Markus Sohn, Florian Grünschläger, Patrick Hasenfeld, Eva Benito Garagorri, Vera Thiel, Anna Dolnik, Bernardo Rodriguez-Martin, Lars Bullinger, Krzysztof Mrózek, Ann-Kathrin Eisfeld, Alwin Krämer, Ashley D. Sanders, Jan O. Korbel and Andreas Trumpp

Aino-Maija Leppä