Immunological Phenotype of Desmoid-fibromatosis-affected Patients.

Condition(s) studied

Study summary

This observational study aims to characterize the molecular, phenotypic, and functional inflammatory and immunological profile of patients with sporadic desmoid-type fibromatosis undergoing either active surveillance or systemic therapy. The study includes analysis of the tumor immune microenvironment (TIME), circulating immune and inflammatory molecules, immune cell subsets, and circulating tumor DNA (ctDNA). The goal is to identify biomarkers associated with spontaneous or treatment-induced tumor regression and to evaluate potential correlations with specific ß-catenin mutations.

Eligibility

Primary outcome measure(s)

• Levels of circulating tumor DNA (ctDNA) — Baseline and every 3 months during the first year, then every 6 months up to 36 months.
  Quantification of circulating tumor DNA levels in peripheral blood samples to evaluate their association with the clinical course of the disease (stable disease, spontaneous regression, or progression according to RECIST criteria).
• Phenotypic profile of circulating immune cells — Baseline and every 3 months during the first year, then every 6 months up to 36 months.
  Characterization of circulating immune cell subsets in peripheral blood samples using immunophenotyping assays.
• Tumor immune microenvironment characteristics — Baseline.
  Assessment of immune cell infiltration and inflammatory markers in available tumor biopsy samples to characterize the tumor immune microenvironment.
• Clinical disease course — From baseline up to 36 months.
  Clinical disease course assessed as stable disease, spontaneous regression, or progression according to RECIST criteria.

Trial sites (8)

More Fondazione IRCCS Istituto Nazionale dei Tumori, Milano trials in Italy