Frank Westermann

LACHESIS: real-time inference of evolutionary trajectories of malignant transformation from whole-genome sequencing data

M Eggle, Anand Mayakonda, Christoph Bartenhagen, Thomas Höfer et autres

Abstract Computational tools for phylogenetic inference of early tumor evolution in real time are currently lacking. We present LACHESIS, a standardized R package and Shiny app that times early and most recent common ancestors of individual tumors from whole-genome sequencing data. LACHESIS …

de, gb (code pays fourni par la source)

The ITCC-P4 PDX Platform Enables Preclinical Testing of Pediatric Cancers

Aniello Federico, Apurva Gopisetty, Didier Surdez, Yasmine Iddir et autres

Abstract Cancer is the leading cause of disease-related deaths among children in high-income countries. Tumor heterogeneity and the lack of mechanism of action–based therapeutic options are key challenges to overcome to improve the survival of pediatric patients with cancer. To address these …

de, fr, ch, nl, gb, us, sk, at, cz, au, es, it (code pays fourni par la source)

Mapping the genomic and transcriptomic features associated with telomere maintenance mechanisms in complex karyotype sarcomas

Nicola Biondi, Maria Luisa Ratto, Rajesh Pal, Tobias Rausch et autres

Abstract Complex karyotype sarcomas (CKS) are heterogeneous mesenchymal malignancies that typically lack recurrent actionable oncogenic drivers and remain therapeutically challenging. Loss of ATRX is a recurrent feature of CKS and defines a particularly high-risk subgroup. ATRX loss is also associated with activation …

de, mx, gb (code pays fourni par la source)

Genome-wide cfDNA Profiling from Whole Blood Reveals Molecular Risk and Potential for Early Detection in Neuroblastoma

S F Zabel, M Eggle, S Volz, A Mayakonda et autres

de (code pays fourni par la source)

Sensitivity profiling reveals consistent drug responses across preclinical neuroblastoma models

Marlinde C. Schoonbeek, Marloes van Luik, Heike Peterziel, Dennis Gürgen et autres

Abstract Despite intensive treatment, overall survival for high-risk and relapse neuroblastoma patients remains below 50%. Even though comprehensive molecular profiling enables treatment stratification, druggable alterations have been identified for only a subset of patients. In vitro drug screening offers a complementary approach. …

nl, de, fr, ch, us (code pays fourni par la source)

Mutated FGFR1 is an oncogenic driver and therapeutic target in high-risk neuroblastoma

Lisa Werr, Jana Boland, Josephine Blaamann Petersen, Fiorella Iglesias et autres

Fibroblast growth factor receptor 1 (FGFR1) is recurrently mutated at p.N546 in neuroblastoma. We examined whether mutant FGFR1 is an oncogenic driver, a predictive biomarker, and an actionable vulnerability in this malignancy. FGFR1 mutations at p.N546 were associated with high-risk disease and …

de, sk, us, ca, at, no, nl, gb, it, fr (code pays fourni par la source)

The ITCC-P4 PDX platform of pediatric cancers for preclinical testing

Aniello Federico, Apurva Gopisetty, Didier Surdez, Yasmine Iddir et autres

Abstract Cancer is the leading cause of disease-related deaths among children in high-income countries. Tumor heterogeneity and lack of mechanism-of-action-based therapeutic options are key challenges to overcome in order to improve pediatric cancer patients’ survival. Here, we report the EU-IMI-2 funded public-private …

de, fr, ch, nl, gb, us, at, sg, kr, br, es, cz, au, it (code pays fourni par la source)

Supplementary Figures from Enhancer Hijacking Discovery in Acute Myeloid Leukemia by Pyjacker Identifies MNX1 Activation via Deletion 7q

Etienne Sollier, Anna Riedel, Umut H. Toprak, Justyna A. Wierzbinska et autres

Supplementary Figure 1. Summary of the somatic alterations in the 39 ckAML samples. Supplementary Figure 2. Proportion of samples expressing the top pyjacker hits, for several AML cohorts profiled with RNA-seq. Supplementary Figure 3. Example rearrangements leading to gene activation and TP53 …

Supplementary Tables from Enhancer Hijacking Discovery in Acute Myeloid Leukemia by Pyjacker Identifies MNX1 Activation via Deletion 7q

Etienne Sollier, Anna Riedel, Umut H. Toprak, Justyna A. Wierzbinska et autres

ST1 Methods for enhancer hijacking detection ST2 Ranked and scored hematopoietic enhancers (based on ChIP-seq data for H3K27ac and P300 from K562, MOLM1 and Kasumi1) ST3 Pyjacker results for the 10 AML cell lines ST4 Pyjacker results for the 120 medulloblastoma samples …

Harmonization of Reporting of ALK Genetic Alterations in Neuroblastoma

Alexandra Saint‐Charles, Julien Masliah‐Planchon, Elnaz Saberi-Ansari, Angela Bellini et autres

In high-risk neuroblastoma, identification of ALK activating genetic alterations is considered for clinical decision-making at relapse or more recently in frontline treatment. The accurate diagnosis of genetic alterations requires harmonization of molecular techniques and reporting, especially when these concern inclusion criteria for …

fr, at, es, be, gb, cz, no, se, ch, dk, nl, de, il, it, ie, au (code pays fourni par la source)

Telomere content and genomics of myeloid neoplasia by whole-genome sequencing

Luca Guarnera, Adam Wahida, Carmelo Gurnari, Stephan Hütter et autres

ABSTRACT: Telomere length shortening has been associated with genomic instability and acquisition of molecular lesions, but these processes have not been systematically studied across large cohorts of myeloid neoplasia (MN). As proof of concept for a novel, cross-validated whole-genome sequencing-based method of …

it, us, de, jp, es, fr (code pays fourni par la source)

RAPID FIRE SESSION 01

Luca Guarnera, Adam Wahida, Carmelo Gurnari, Stephan Hütter et autres

de, it, us, fr (code pays fourni par la source)