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Jimenez-Santos, M. J.

Publications and source records attributed to Jimenez-Santos, M. J..

4 recordsLinked to original sources

Beyond one-size-fits-all: single-cell transcriptomic signatures predict drug efficacy and reveal responder subgroups in endometriosis

Endometriosis affects [~]10% of reproductive-age women, yet targeted non-hormonal therapies remain unavailable, and treatment response is highly variable. Here, we apply a single-cell framework to resolve therapeutic heterogeneity at a resolution previously unattained in drug development efforts. Using scRNA-seq profiles from eutopic and ectopic tissues, combined with a machine learning-based drug response model, we identified compounds predicted to revert disease-associated transcriptional states and map cell-type-specific vulnerabilities across patients and tissues. Our analysis revealed pronounced tissue-specific and inter-patient heterogeneity in predicted responses. Stromal, endothelial, and stem cell populations emerged as the dominant therapeutic targets, collectively revealing selective sensitivity to two recurrent drug classes, histone deacetylase and tubulin polymerisation inhibitors. Transcriptomic comparison of predicted responders and non-responders to these drugs pointed to conserved molecular programmes involving extracellular matrix remodelling, angiogenesis, and proliferative activation. These signatures were shared between eutopic and ectopic stromal compartments, supporting the feasibility of assessing therapeutic response using readily accessible eutopic tissue. Our findings show that this single-cell framework can dissect therapeutic heterogeneity in endometriosis, support the development of precision non-hormonal therapies and identify responder subgroups relevant for patient stratification. Together, these results highlight that underlying molecular diversity in endometriosis necessitates therapeutic approaches beyond a one-size-fits-all model.

molecular biology↗

Spatial Transcriptomics in Breast Cancer Reveals Tumour Microenvironment-Driven Drug Responses and Clonal Therapeutic Heterogeneity

Breast cancer is a heterogeneous disease that has the highest incidence and mortality rate among cancers in women worldwide. Breast cancer patients are stratified into three clinical subtypes with different treatment strategies and prognostic values. The development of targeted therapies against the biomarkers that define these strata constitutes one of the precedents of precision oncology, which aims to provide tailored treatments to cancer patients by targeting the molecular alterations found in each tumour. Although this approach has increased patient outcomes, many treatment failure cases still exist. Drug ineffectiveness and relapse have been associated with the coexistence of several malignant subpopulations with different drug sensitivities within the same lesion, a phenomenon known as intratumor heterogeneity. This heterogeneity has been extensively studied from a tumour-centric view, but recently, it has become evident that the tumour microenvironment plays a crucial role in intratumor heterogeneity. However, few studies consider the tumour-microenvironment interplay and its influence on drug sensitivity. In this work, we predict the sensitivity of 10x Visium spatial transcriptomics data from 9 breast cancer patients to >1,200 drugs and verify different response patterns across the tumour, interphase and microenvironment regions. We uncover a sensitivity continuum from the tumour core to the periphery accompanied by a functional gradient. Moreover, we identify conserved therapeutic clusters with distinct response patterns within the tumour region. We link the specific drug sensitivities of each therapeutic cluster to different ligand-receptor interactions that underpin distinct biological functions. Finally, we demonstrate that genetically identical cancer spots may belong to different therapeutic clusters and that this therapeutic heterogeneity is related to their location at the edge or core of tumour ducts. These results highlight the importance of considering the distance to the tumour core and the microenvironment composition when identifying suitable treatments to target intratumor heterogeneity.

cancer biology↗

RANK is an independent biomarker of poor prognosis in estrogen receptor-negative breast cancer and a therapeutic target in patient-derived xenografts

Despite strong preclinical data, the therapeutic benefit of the RANKL inhibitor denosumab in BC patients, beyond its bone-related effects, is unclear. Here, we investigated the prognostic value of RANK expression and its functionality in human BC. We analyzed RANK and RANKL expression in more than 1500 BC cases (777 being estrogen receptor-negative (ER-)) from four independent cohorts. We confirmed that RANK is more frequently expressed in ER- tumors, but it is also found in a subset of ER+ tumors. In ER- BC, RANK expression was independently associated with poor outcome, especially in postmenopausal patients and those who received adjuvant chemotherapy. Gene expression analyses unraveled distinct biology associated with RANK in relation to ER expression and menopause, and evidenced enhanced RANK activation in ER- postmenopausal tumors, together with regulation of metabolic pathways. Functional studies and transcriptomic analyses in ER- RANK+ patients-derived orthoxenografts demonstrated that activation of RANK signaling pathway promotes tumor cell proliferation and stemness, and regulates multiple biological processes including tumor immune surveillance and metabolism. Our results demonstrate that RANK expression is an independent poor prognosis biomarker in postmenopausal ER- BC patients and support the rational of using RANK pathway inhibitors in combination with chemotherapy in ER- BC.

cancer biology↗

Beyondcell: targeting cancer therapeutic heterogeneity in single-cell RNA-seq

We present Beyondcell (https://gitlab.com/bu_cnio/beyondcell/), a computational methodology for identifying tumour cell subpopulations with distinct drug responses in single-cell RNA-seq data and proposing cancer-specific treatments. Our method calculates an enrichment score in a collection of drug signatures, delineating therapeutic clusters (TCs) within cellular populations. Additionally, Beyondcell determines therapeutic differences among cell populations, and generates a prioritised ranking of the differential sensitivity drugs between chosen conditions to guide drug selection. We performed Beyondcell analysis in four single-cell datasets to validate our score and to demonstrate that TCs can be exploited to target malignant cells both in cancer cell lines and tumour patients.

bioinformatics↗