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Mantini, G.

Publications and source records attributed to Mantini, G..

2 recordsLinked to original sources

An IGF2-anchored oncofetal state and relapse-associated transcriptomic module define systemic progression risk in early-onset colorectal cancer

The epidemiological surge of early-onset colorectal cancer (EOCRC) is characterized by accelerated biological kinetics and disproportionately high rates of systemic relapse following curative-intent surgery. Because standard anatomical staging (TNM) lacks the resolution to accurately capture the intrinsic regenerative capacity of microscopic residual disease, we investigated the transcriptomic architecture of post-surgical failure in a strictly defined, curative-intent clinical pan-cohort. Unbiased transcriptomic profiling of the localized (M0) discovery sub-cohort identified IGF2 as the most significantly upregulated correlate of metachronous relapse. High-resolution isoform analysis revealed that this transcriptional output is predominantly driven by the embryonic (P4) and placental (P5) promoters. Systematic allele-specific expression (ASE) analysis supported widespread biallelic IGF2 expression consistent with relaxation of imprinting-domain control. This signal was not restricted to relapsing tumors, suggesting a recurrence-independent oncofetal baseline across the EOCRC spectrum. Because this foundational epigenetic unlocking is functionally insufficient on its own to execute systemic metastasis, we distilled the additional transcriptional plasticity required for dissemination into an internally derived and bootstrap-stabilized 5-gene recurrence-risk module Multivariable analysis across the combined pan-cohort supported an independent association between the high-risk module and systemic relapse (p < 0.001), capturing prognostic dimensions completely unresolved by classical pathological covariates and baseline staging. Ultimately, our findings reframe EOCRC aggressiveness as the product of a dual-hit architecture. This framework resolves the clinical paradox of widespread IGF2 LOI co-existing with heterogeneous outcomes, offering a biologically grounded basis for molecular risk stratification beyond anatomical boundaries.

cancer biology↗

ABCB1 overexpression through locus amplification represents an actionable target to combat paclitaxel resistance in pancreatic cancer cells

AimsChemotherapies such as gemcitabine/nab-paclitaxel are confronted with intrinsic or acquired resistance in pancreatic ductal adenocarcinoma (PDAC). We aimed to identify novel actionable mechanisms to overcome such resistance. MethodsThree paclitaxel (PR) and gemcitabine resistant (GR) PDAC models were established. Transcriptomics and proteomics were used to identify conserved mechanisms of drug resistance. Genetic and pharmacological approaches were used to overcome paclitaxel resistance. ResultsUpregulation of ABCB1 through locus amplification was identified as a conserved feature unique to PR cells. ABCB1 was not affected in any of the GR models and no cross resistance was observed. The ABCB1 inhibitor verapamil or siRNA mediated ABCB1 depletion sensitized PR cells to paclitaxel and prevented efflux of ABCB1 substrates in all models. ABCB1 expression was detected in PDAC patients that had received gemcitabine/nab-paclitaxel treatment. A pharmacological screen identified known and novel kinase inhibitors that attenuate efflux of ABCB1 substrates and sensitize PR PDAC cells to paclitaxel. ConclusionUpregulation of ABCB1 through locus amplification represents a novel, conserved mechanism of PDAC paclitaxel resistance. ABCB1 has not been previously implicated in PR PDAC. The synthetic lethal interactions identified in this study can be further (pre)clinically explored as therapeutic strategies to overcome paclitaxel resistance in PDAC.

cancer biology↗