Boettcher Lab

🔥New paper from our lab @UZH_en @Unispital_USZ @CCCZ_USZ 🔥 #ERCC6L2 disease is a relatively recently described inherited bone marrow failure syndrome. It is strongly associated with somatic #TP53mutations and #AML or #MDS development. 1/7 ashpublications.org/blood/article/…

Excited to share our latest work. Applying advanced single-molecule and single-cell DNA sequencing methods, we uncover an extraordinary landscape of somatic mutations in immune checkpoint genes in autoimmune lymphocytes. [1/n] rdcu.be/fdqbr

Ercc6l2 deficiency leads to replication stress, p53 pathway activation, and decreased Runx1 and Gata1 expression resulting in BMF. Read the plenary paper in Blood: ow.ly/nZ5l50YGL8b #plenarypaper #bloodjournal #p53

I’m also very delighted to share the news that I have been promoted to #AssociateProfessor. @UZH_en @Unispital_USZ @CCCZ_USZ 🍾🥂🎉

Bonus 2/2: Thanks to #Dr. James D. Griffin for featuring our work on the @BloodPortfolio podcast. bloodpodcast.transistor.fm/episodes/conse…

Bonus 1/2: Thanks to #Timothy_Chlon for his insightful commentary on our work! ashpublications.org/blood/article/…

🔥New paper from our lab @UZH_en @Unispital_USZ @CCCZ_USZ 🔥 #ERCC6L2 disease is a relatively recently described inherited bone marrow failure syndrome. It is strongly associated with somatic #TP53mutations and #AML or #MDS development. 1/7 ashpublications.org/blood/article/…

@myllymaki_mikko @Syopasaatio @LaaketieteenS @SuomenAkatemia @helsinkiuni Congratulations, Mikko! Well deserved! Looking forward to all the great science!

I would also like to thank our funders for their ongoing support. @Syopasaatio @LaaketieteenS @SuomenAkatemia @helsinkiuni

My research group has joined the Institute for Molecular Medicine Finland (FIMM)! Looking forward to continuing our work on clonal hematopoiesis and grateful for the opportunity to be part of this wonderful research community. @FIMM_UH @HiLIFE_helsinki helsinki.fi/en/hilife-hels…

Welcome to #ESHAL2026! Stay tuned! ESH Young Scientific Reporters @DKotsos & @TanMeg9595 will provide regular updates on the conference! February 27-March 1, 2026 Chairs: @DombretHerve, Christoph Röllig, @DrWendyStock #ESHCONFERENCES #leusm @Hemasphere_EHA

Getting started for #ESHAL2026 @ESHaematology.

Now online in @CD_AACR: Acquired On-Target Alterations Drive Clinical Resistance to p53-Y220C Reactivators - by @FerranFeceCruz, @AndreasVarkaris, @aparna1024, Ryan Corcoran, and colleagues doi.org/10.1158/2159-8… @MassGenBrigham @MGBResearchNews @harvardmed

@brummendorf Thank you so much, Tim!

@TheBoettcherLab Congratulations, Steffen. Great work and great summary here !

1/🔥 New paper from our lab! #TP53-mutant clonal hematopoiesis (#CH) greatly increases risk for therapy-related #AML/MDS - but why? We set out to dissect how mono- vs. biallelic #TP53 mutations drive leukemic evolution. nature.com/articles/s4137…

@SanjayPatelMD Thank you so much for putting these findings in context! I have the impression that even when formal AEL criteria aren’t met, TP53-mutant myeloid neoplasms often show erythroid-dominant marrow findings. IMHO an under-appreciated pattern.

@TheBoettcherLab Such important work and interesting findings! By a completely different approach we have also observed conspicuous erythroid-lineage skewing in TP53m MDS (doi.org/10.1101/2025.1…) - reassuring to see this pattern emerge in your studies!

@DrKTakahashi Thank you so much!

@TheBoettcherLab Congratulations! Beautiful study!

8/🍾🎉 Congratulations to #JonasFullin and the entire team, and many thanks to all collaborators! 📄 Read the full paper here: “The pathogenesis of therapy-related myeloid neoplasms from TP53-mutant clonal hematopoiesis” nature.com/articles/s4137…

7/🎯 Take-home message: Biallelic #TP53 inactivation is the key driver of leukemic transformation from CH → t-AML/MDS. Non-mutational p53 inactivation matters (as recently shown #PMID: 40315418) Findings support biallelic #TP53-mutant AML/MDS as a distinct biological entity.