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Bartolini, A.

Publications and source records attributed to Bartolini, A..

2 recordsLinked to original sources

Ex vivo stem-like cell families model evolution of glioblastoma therapeutic resistance

Glioblastoma (GBM) arises from stem-like cells (GSCs) that exhibit intrinsic therapeutic resistance and can be positively selected by treatment, rendering recurrent GBM intractable. Mechanistic dissection of therapeutic resistance evolution has been limited by scarce matched primary/recurrent tractable models. To address this gap, we developed "resistant GSC families", a within-patient matched platform that models therapy-driven selection by ex vivo deriving, from the same primary whole GBM, temozolomide (TMZ)- and ionizing radiation (IR)-selected GSCs, alongside a treatment-naive control (CTRL-GSC). This design enables pressure-specific dissection of resistance evolution, separating chemotherapy- and radiotherapy-associated genetic alterations and adaptations that are often confounded in primary-versus-recurrent comparisons. Using this framework, we link TMZ-driven relapse-like states to either mismatch repair (MMR)-dependent stable resistance or O6-methylguanine-DNA methyltransferase (MGMT)-independent drug tolerance, and identify adaptive DNA damage response and cell-cycle changes as a route to increased radioresistance. Across pressures, treatment-emergent GSCs accumulate chromosomal alterations and exhibit adaptive phenotypic remodeling, including increased receptor tyrosine kinase activity. Resistant GSC families represent a model enabling mechanistic studies and hypothesis-driven testing of strategies aimed at preventing or treating GBM recurrence.

cancer biology↗

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↗