Exploring the potential of liquid biopsies in Wilms tumor patients offers exciting possibilities for enhancing diagnosis, treatment monitoring, and prognosis
Ente Finanziatore: INT 5%%
Principal Investigator: Dott.ssa Perotti Daniela
Co Principal Investigator: Dott.ssa Gattuso Giovanna
Data di inizio:
Data di fine:
Struttura Principale: Medicina Predittiva: Basi Molecolari del Rischio Genetico
- Some copy number anomalies (CNA) (such as chromosome 1p/16q loss, 1q gain) are prognostic when found in tumor specimens and COG protocol stratifies patients’ treatment according to some of these biomarkers. Considering the high level of intratumoral heterogeneity characterizing WT, also the analysis of multiple tumor samples does not assure the detection of prognostic CNA when heterogeneously present. Thus, it is fundamental for correct patients’ treatment stratification to overcome this issue, and liquid biopsy (LB) holds the promise to represent the whole tumor, bypassing intratumor heterogeneity.
- Patients with diffuse anaplastic WT (whose tumors have 17p loss encompassing the TP53 gene) are considered high-risk WT patients . Furthermore, patients whose tumors carry 1p/16q loss, 1q gain, are at increased risk of relapse. In the current clinical setting, these pathological and molecular characteristics are detected only after surgery, which, in the SIOP contest, occurs 4-6 weeks after initial diagnosis. The early recognition of these patients, who might benefit from a more intensive treatment in the first-line setting, could improve their prognosis. LB might prove to be useful for the early detection of these diagnostic/prognostic biomarkers at diagnosis.
- At present, half of relapsing patients die of disease so an early identification of a relapsing tumor could be of clinical help, potentially enabling earlier intervention. Longitudinally, serially collected LB may prove to be useful in monitoring disease course, and in the early detection of relapsing disease.
- Considering the huge potential of LB in the diagnosis, therapy stratification, and follow-up of WT patients, it is worth exploring more accurately the less invasive source of ctDNA. Urines represent a totally noninvasive LB which could represent an effective source of ctDNA, but that have been poorly investigated in WT.
Principal Investigator Dr. Perotti Daniela
Co Principal Investigator Dott.ssa Gattuso Giovanna
Struttura Principale: Predictive Medicine: Molecular Bases of Genetic Risk
Research Area, Departmental Simple Structure
Diagnostic and Interventional Radiology Unit
Clinical Area, Complex Structure
Bioinformatics and Biostatistics Unit
Simple Structure
Soft Tissue Tumor Pathology
Clinical Area, Simple Structure
Last update: 10/06/2025