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@ARTICLE{Merk:273911,
author = {Merk, Daniel J and Tsiami, Foteini and Hirsch, Sophie and
Walter, Bianca and Haeusser, Lara A and Maile, Jens D and
Stahl, Aaron and Jarboui, Mohamed A and Lechado-Terradas,
Anna and Klose, Franziska and Babaei, Sepideh and Admard,
Jakob and Casadei, Nicolas and Roggia, Cristiana and Spohn,
Michael and Schittenhelm, Jens and Singer, Stephan and
Schüller, Ulrich and Piccioni, Federica and Persky, Nicole
S and Claassen, Manfred and Tatagiba, Marcos and Kahle,
Philipp J and Root, David E and Templin, Markus and
Tabatabai, Ghazaleh},
title = {{F}unctional screening reveals genetic dependencies and
diverging cell cycle control in atypical teratoid rhabdoid
tumors.},
journal = {Genome biology},
volume = {25},
number = {1},
issn = {1465-6906},
address = {London},
publisher = {BioMed Central},
reportid = {DZNE-2024-01385},
pages = {301},
year = {2024},
abstract = {Atypical teratoid rhabdoid tumors (ATRT) are incurable
high-grade pediatric brain tumors. Despite intensive
research efforts, the prognosis for ATRT patients under
currently established treatment protocols is poor. While
novel therapeutic strategies are urgently needed, the
generation of molecular-driven treatment concepts is a
challenge mainly due to the absence of actionable genetic
alterations.We here use a functional genomics approach to
identify genetic dependencies in ATRT, validate selected
hits using a functionally instructed small molecule drug
library, and observe preferential activity in ATRT cells
without subgroup-specific selectivity. CDK4/6 inhibitors are
among the most potent drugs and display anti-tumor efficacy
due to mutual exclusive dependency on CDK4 or CDK6.
Chemogenetic interactor screens reveal a broad spectrum of
G1 phase cell cycle regulators that differentially enable
cell cycle progression and modulate response to CDK4/6
inhibition in ATRT cells. In this regard, we find that the
ubiquitin ligase substrate receptor AMBRA1 acts as a
context-specific inhibitor of cell cycle progression by
regulating key components of mitosis including aurora
kinases.Our data provide a comprehensive resource of genetic
and chemical dependencies in ATRTs, which will inform
further preclinical evaluation of novel targeted therapies
for this tumor entity. Furthermore, this study reveals a
unique mechanism of cell cycle inhibition as the basis for
tumor suppressive functions of AMBRA1.},
keywords = {Humans / Rhabdoid Tumor: genetics / Rhabdoid Tumor: drug
therapy / Teratoma: genetics / Teratoma: pathology /
Teratoma: drug therapy / Teratoma: metabolism /
Cyclin-Dependent Kinase 6: metabolism / Cyclin-Dependent
Kinase 6: antagonists $\&$ inhibitors / Cyclin-Dependent
Kinase 6: genetics / Cell Line, Tumor / Cyclin-Dependent
Kinase 4: antagonists $\&$ inhibitors / Cyclin-Dependent
Kinase 4: metabolism / Cell Cycle Checkpoints: drug effects
/ Antineoplastic Agents: pharmacology / Brain Neoplasms:
genetics / Brain Neoplasms: metabolism / Brain Neoplasms:
pathology / Brain Neoplasms: drug therapy / Cell Cycle /
Protein Kinase Inhibitors: pharmacology / AMBRA1 (Other) /
CDK4/6 inhibitors (Other) / CRISPR-Cas9 (Other) / Functional
screening (Other) / Genetic dependencies (Other) / Rhabdoid
tumors (Other) / Tumor suppressor (Other) / Cyclin-Dependent
Kinase 6 (NLM Chemicals) / Cyclin-Dependent Kinase 4 (NLM
Chemicals) / CDK6 protein, human (NLM Chemicals) /
Antineoplastic Agents (NLM Chemicals) / CDK4 protein, human
(NLM Chemicals) / Protein Kinase Inhibitors (NLM Chemicals)},
cin = {AG Kahle / AG Gasser},
ddc = {570},
cid = {I:(DE-2719)1210000-4 / I:(DE-2719)1210000},
pnm = {352 - Disease Mechanisms (POF4-352) / 353 - Clinical and
Health Care Research (POF4-353)},
pid = {G:(DE-HGF)POF4-352 / G:(DE-HGF)POF4-353},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:39617889},
pmc = {pmc:PMC11610224},
doi = {10.1186/s13059-024-03438-w},
url = {https://pub.dzne.de/record/273911},
}