Ilaria Alborelli
A5051330037- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Lung Cancer Treatments and Mutations
- Cancer-related molecular mechanisms research
- Immune Cell Function and Interaction
- Genetic factors in colorectal cancer
- Single-cell and spatial transcriptomics
- Prostate Cancer Treatment and Research
- Colorectal Cancer Treatments and Studies
- CAR-T cell therapy research
- RNA modifications and cancer
- Glycosylation and Glycoproteins Research
- Lung Cancer Research Studies
- Cell Image Analysis Techniques
- Bioinformatics and Genomic Networks
- Prostate Cancer Diagnosis and Treatment
- Liver Disease Diagnosis and Treatment
- Genomics and Rare Diseases
- Bladder and Urothelial Cancer Treatments
- Cellular transport and secretion
- Gene expression and cancer classification
- Urinary and Genital Oncology Studies
- Inflammatory Biomarkers in Disease Prognosis
- Bone Tumor Diagnosis and Treatments
- Immunodeficiency and Autoimmune Disorders
University Hospital of Basel
2018-2025
University of Basel
2016-2025
Hospital Base
2021
University of Milano-Bicocca
2011
The San Raffaele Telethon Institute for Gene Therapy
2010
Istituti di Ricovero e Cura a Carattere Scientifico
2010
Vita-Salute San Raffaele University
2010
Queen's Medical Centre
2009
University of Nottingham
2009
The role of protein localization along the apical-basal axis polarized cells is difficult to investigate in vivo, partially due lack suitable tools. Here, we present GrabFP system, a collection four nanobody-based GFP-traps that localize defined positions axis. We show preference traps can impose novel on GFP-tagged target proteins and results their controlled mislocalization. These new tools were used mislocalize transmembrane cytoplasmic GFP fusion Drosophila wing disc epithelium effect...
In non-small cell lung cancer (NSCLC), immune checkpoint inhibitors (ICIs) significantly improve overall survival (OS). Tumor mutational burden (TMB) has emerged as a predictive biomarker for patients treated with ICIs. Here, we evaluated the power of TMB measured by Oncomine™ Mutational Load targeted sequencing assay in 76 NSCLC was assessed retrospectively receiving ICI therapy. Clinical data (RECIST 1.1) were collected and classified having either durable clinical benefit (DCB) or no...
Pre-symptomatic screening of genetic alterations might help identify subpopulations individuals that could enter into early access prevention programs. Since liquid biopsy is minimally invasive it can be used for longitudinal studies in healthy volunteers to monitor events progression from normal tissue pre-cancerous and cancerous condition. Yet, cell-free DNA (cfDNA) analysis comes with substantial challenges such as the lack large cohort addressing impact mutations or low abundance cfDNA...
Recent technological advances have led to an increase in the production and availability of single-cell data. The ability integrate a set multi-technology measurements would allow identification biologically or clinically meaningful observations through unification perspectives afforded by each technology. In most cases, however, profiling technologies consume used cells thus pairwise correspondences between datasets are lost. Due sheer size can acquire, scalable algorithms that able...
PURPOSE The integration of immunotherapy in the perioperative setting muscle-invasive urothelial carcinoma (MIUC) appears promising. SAKK 06/17 investigated addition neoadjuvant durvalumab to gemcitabine/cisplatin (GC) chemotherapy followed by radical surgery and adjuvant checkpoint inhibition with durvalumab. PATIENTS AND METHODS was an investigator-initiated, open-label, single-arm phase II study including cisplatin-fit patients stage cT2-T4a cN0-1 operable MIUC. Four cycles GC combination...
Understanding the complex background of cancer requires genotype-phenotype information in single-cell resolution. Here, we perform long-read RNA sequencing (scRNA-seq) on clinical samples from three ovarian patients presenting with omental metastasis and increase PacBio depth to 12,000 reads per cell. Our approach captures 152,000 isoforms, which over 52,000 were not previously reported. Isoform-level analysis accounting for non-coding isoforms reveals 20% overestimation protein-coding gene...
Testing for epidermal growth factor receptor (EGFR) mutations is an essential recommendation in guidelines metastatic non-squamous non-small-cell lung cancer, and considered mandatory European countries. However, practice, challenges are often faced when carrying out routine biomarker testing, including access to inadequate tissue samples long turnaround times (TATs).To evaluate the real-world EGFR testing practices of pathology laboratories, online survey was set up validated by Pulmonary...
Abstract Purpose: PD-(L)1–blocking antibodies have clinical activity in metastatic non–small cell lung cancer (NSCLC) and mediate durable tumor remissions. However, the majority of patients are resistant to PD-(L)1 blockade. Understanding mechanisms primary resistance may allow prediction response identification new targetable pathways. Experimental Design: Peripheral blood mononuclear cells were collected from 35 with NSCLC receiving nivolumab monotherapy. Cellular changes, cytokine levels,...
Liver injury after COVID-19 vaccination is very rare and shows clinical histomorphological similarities with autoimmune hepatitis (AIH). Little known about the pathophysiology of vaccine-induced liver (VILI) its relationship to AIH. Therefore, we compared VILI AIH.Formalin-fixed paraffin-embedded biopsy samples from patients (n = 6) an initial diagnosis AIH 9) were included. Both cohorts by evaluation, whole-transcriptome spatial transcriptome sequencing, multiplex immunofluorescence, immune...
Background Aggressive Variant Prostate Cancers (AVPCs) are incurable malignancies. Platinum-based chemotherapies used for the palliative treatment of AVPC. The Polycomb Repressive Complex 2 (PRC2) promotes prostate cancer progression via histone H3 Lysine 27 tri-methylation (H3K27me3). EZH2 encodes catalytic subunit PRC2. A recently developed nucleosome capture technology (Nu.QⓇ).measures H3K27me3 levels in biological fluids. inhibitors (EZH2i) being tested clinical trials. We hypothesize...
Background: Advanced solid cancers present significant treatment challenges due to their genomic heterogeneity and resistance. Liquid biopsies, specifically circulating tumour DNA (ctDNA), have emerged as promising tools support decision making. However, evidence regarding implementation in routine care remains limited. Methods: LIQPLAT is a single-arm trial (SAT), assessing the feasibility of implementing ctDNA measurements usual patients with advanced excepting primary brain tumours, at...
Metastatic neuroendocrine prostate cancer (NEPC) is a highly aggressive disease, whose incidence rising. Long noncoding RNAs (lncRNAs) represent large family of disease‐ and tissue‐specific transcripts, most which are still functionally uncharacterized. Thus, we set out to identify the conserved lncRNAs that play central role in NEPC pathogenesis. To this end, performed transcriptomic analyses donor‐matched patient‐derived xenograft models (PDXs) with immunohistologic features adenocarcinoma...
Tumor mutational burden (TMB) is an increasingly important biomarker for immune checkpoint inhibitors. Recent publications have described strong association between high TMB and objective response to mono- combination immunotherapies in several cancer types. Existing methods estimate require large amount of input DNA, which may not always be available.In this study, we develop a method using the Oncomine Mutation Load (TML) Assay with 20 ng characterize performance on various formalin-fixed,...
CD8+ tumor-infiltrating T cells can be regarded as one of the most relevant predictive biomarkers in immune-oncology. Highly infiltrated tumors, referred to inflamed (clinically "hot"), show favorable response immune checkpoint inhibitors contrast tumors with a scarce infiltrate called desert or excluded "cold"). Nevertheless, quantitative and reproducible methods examining their prevalence within are lacking. We therefore established computational diagnostic algorithm quantitatively measure...
Brown tumors are rare and generally self-limiting mass lesions of bone occurring in the context hyperparathyroidism. Although commonly regarded as endocrine-driven tumor-like lesions, we detected pathogenic hotspot KRAS mutations 10/16 brown (62%) with similar frequencies found cases affecting peripheral axial skeleton. Pathogenic other driver genes RAS-MAPK pathway were not identified. Our findings suggest to represent true neoplasms driven by activation signaling pathway. The frequent...
Cemento-osseous dysplasia (COD) belongs to the spectrum of benign fibro-osseous lesions occurring exclusively in tooth-bearing areas jaws. Depending on site and extent involvement, periapical, focal florid subtypes can be distinguished that share an identical histomorphology. Most cases are asymptomatic follow a self-limited course requiring no specific treatment. Over time, progressively mineralise while cellularity decreases. However, molecular pathogenesis COD, has not yet been explored....
Deep single-cell multi-omic profiling offers a promising approach to understand and overcome drug resistance in relapsed or refractory (rr) acute myeloid leukemia (AML). Here, we combine ex vivo (pharmacoscopy) with bulk DNA, RNA, protein analyses, alongside clinical data from 21 rrAML patients. Unsupervised integration reveals reduced response the Bcl-2 inhibitor venetoclax (VEN) patients treated both hypomethylating agent (HMA) VEN, compared those pre-exposed chemotherapy HMA alone....
The origin recognition complex (ORC) marks chromosomal sites as replication origins and is essential for initiation. In yeast, ORC also binds to DNA elements called silencers, where its primary function recruit silent information regulator (SIR) proteins establish transcriptional silencing. Indeed, silencers poorly origins. Several genetic, molecular, biochemical studies of HMR-E have led a model proposing that when becomes limiting in the cell (such orc2-1 mutant) only bind tightly HMR-E)...
Background: Castration-resistant prostate cancer (CRPC) is an incurable malignancy. Long noncoding RNAs (lncRNAs) play key roles in drug resistance. Materials & methods: LncRNA HORAS5 role cabazitaxel resistance (i.e., cell-count, IC50 and caspase activity) was studied via lentiviral-mediated overexpression siRNA-based knockdown. Genes expression analyzed with RNA-sequencing, reverse transcription quantitative PCR (RT-qPCR) western blot. queried clinical database. Results: Cabazitaxel...