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Isella, C.

Publications and source records attributed to Isella, C..

3 recordsLinked to original sources

Integrative ensemble modelling of cetuximab sensitivity in colorectal cancer PDXs

AO_SCPLOWBSTRACTC_SCPLOWPatient-derived xenografts (PDXs) are tumour fragments engrafted into mice for preclinical studies. PDXs offer clear advantages over simpler in vitro cancer models - such as cancer cell lines (CCLs) and organoids - in terms of structural complexity, heterogeneity, and stromal interactions. We characterised 231 colorectal cancer PDXs at the genomic, transcriptomic, and epigenetic level and measured their response to cetuximab, an EGFR inhibitor in clinical use for metastatic colorectal cancer. After assessing PDXs quality, stability, and molecular concordance with publicly available patient cohorts, we trained, interpreted, and validated an integrated ensemble classifier (CeSta) which takes in input the PDXs multi-omic characterisation and predicts their sensitivity to cetuximab treatment (AUROC > 0.9). Our study shows that large PDX collections can be used to train accurate, interpretable models of drug sensitivity, which 1) better recapitulate patient-derived therapeutic biomarkers than other models trained on CCL data, 2) can be robustly validated across independent PDX cohorts, and 3) can be used for the development of novel therapeutic biomarkers.

bioinformatics↗

Evolving neoantigen profiles in colorectal cancers with DNA repair defects

BackgroundNeoantigens that arise as a consequence of tumour-specific mutations can be recognized by T lymphocytes leading to effective immune surveillance. In colorectal cancer (CRC) and other tumour types, a high number of neoantigens is associated with patient response to immune therapies. The molecular processes governing the generation of neoantigens and their turnover in cancer cells are poorly understood. We exploited CRC as a model system to understand how alterations in DNA repair pathways modulate neoantigen profiles over time.\n\nMethodsWe performed Whole Exome Sequencing (WES) and RNA sequencing (RNAseq) in CRC cell lines, in vitro and vivo, and in CRC patient-derived xenografts (PDXs) to track longitudinally genomic profiles, clonal evolution, mutational signatures and predicted neoantigens.\n\nResultsThe majority of CRC models showed remarkably stable mutational and neoantigen profiles, however those carrying defects in DNA repair genes continuously diversified. Rapidly evolving and evolutionary stable CRCs displayed characteristic genomic signatures, and transcriptional profiles. Downregulation of molecules implicated in antigen presentation occurred selectively in highly mutated and rapidly-evolving CRC.\n\nConclusionsThese results indicate that CRC carrying alterations in DNA repair pathways display dynamic neoantigen patterns that fluctuate over time. We define CRC subsets characterized by slow and fast evolvability and link this phenotype to downregulation of antigen-presenting cellular mechanisms. Longitudinal monitoring of the neoantigen landscape could be relevant in the context of precision medicine.

cancer biology↗

MaREA: Metabolic feature extraction, enrichment and visualization of RNAseq data

The characterization of the metabolic deregulations that distinguish cancer phenotypes, and which might be effectively targeted by ad-hoc strategies, is a key open challenge. To this end, we here introduce MaREA (Metabolic Reaction Enrichment Analysis), a computational pipeline that processes cross-sectional RNAseq data to identify the metabolic reactions that are significantly up-/ down-regulated in different sample subgroups. MaREA relies on the definition of a Reaction Activity Score, computed as a function of the expression level of genes encoding for reaction enzymes, which can also be used as an effective metrics to cluster samples into distinct metabolic subgroups. MaREA finally allows to visualize the results in a graphical form directly on metabolic maps. We apply MaREA to distinct cancer datasets and we show that it can produce useful information and new experimental hypotheses on metabolic deregulation of cancer cells, also allowing to stratify patients in metabolic clusters with significantly different survival expectancy.

bioinformatics↗