The Impact of Concordance Between Liquid and Tissue Biopsy for Actionable Mutations: Insights from the Rome Trial.

Purpose: This analysis evaluated the influence of tissue and liquid biopsy concordance on outcomes in patients enrolled in the ROME Trial.

Experimental Design: The ROME trial, a phase II multicenter study, enrolled 1,794 patients with advanced solid tumors. Next-generation sequencing (NGS) was performed on tissue and liquid biopsies using FoundationOne CDx and FoundationOne Liquid CDx, A centralized Molecular Tumor Board (MTB) reviewed results to identify actionable alterations, with 400 patients randomized to tailored therapy (TT) or standard-of-care (SoC).

Urgent call to the European Commission to simplify and contextualize IVDR Article 5.5 for tailored and precision diagnostics.

The European Commission (EC) started targeted evaluations and public consultations regarding the EU IVDR 2017/746 to assess its effectiveness, efficiency, relevance, and EU-added value. The goal is to identify implementation challenges and unintended consequences, experienced by either IVD-manufacturers that put CE-IVDs on the EU market or by medical laboratories that establish and operate in-house-IVDs (IH-IVDs) in their healthcare institution (network). Based on stakeholder feedback the EC aims to be informed about potential regulatory revisions by late 2025.

Screening and Identification of a Common Haplotype in the Jewish Community of Rome Reveal a Founder Effect for the c.7007G>C, p. (Arg2336Pro) Variant.

Background/objectives: Cancer risk-reducing strategies in Ashkenazi women carrying founder variants have a cost-effective effect on reducing cancer morbidity and mortality. The British and US guidelines recommend () screening among Ashkenazi Jewish people to identify high-risk individuals. status has not been investigated yet in the Jewish community of Rome.

Real-World Analysis of HRD Assay Variability in High-Grade Serous Ovarian Cancer: Impacts of BRCA1/2 Mutation Subtypes on HRD Assessment.

The HRD (Homologous Recombination Deficiency) test is considered a genomic alteration useful for guiding therapeutic decisions in patients with ovarian cancer. Some commercial and in house alternative "academic" tests are available. Recent findings indicate that not all mutations determine the magnitude of HRD and that some patients carrying mutations may exhibit indeterminate or even negative HRD scores.

Genes of the "regulation of lymphocyte activation" pathway may influence immune cells infiltration in growth hormone secreting pituitary tumors.

Purpose: The tumor microenvironment (TME) may provide a useful framework for understanding the heterogeneous behavior of growth hormone (GH) secreting pituitary adenomas. Although the interest in TME in somatotropinomas has increased exponentially over the last few decades, there is limited elucidation of its mechanisms, particularly in relation to genes expression involved in its regulation.

Methods: A retrospective, observational, single-center study was conducted on 85 subjects: 46 patients diagnosed with acromegaly and 39 controls.