What question did this study set out to answer?

This research aims to evaluate the effects of expanded referral criteria on germline testing outcomes in sarcoma patients.

March 12, 2026Open Access

124P Efficacy of nirogacestat in improving emotional impact outcomes in adults with desmoid tumors: Post hoc analysis from the DeFi Trial

Puntos clave

This research aims to evaluate the effects of expanded referral criteria on germline testing outcomes in sarcoma patients.
Conducted a retrospective observational study of consecutive sarcoma patients referred to the HCC unit.
Analyzed germline testing results from patients referred between January 2007 and November 2025.
Evaluated the impact of broader referral criteria on the rate of pathogenic variants (PVs) detected.
Identified PVs in 40.9% of patients under previous criteria and 10% under expanded criteria.
Noted that 25% of PVs detected would have been missed under the older referral criteria.
Increased diagnosis of hereditary predisposition was noted, particularly in connections to Li-Fraumeni syndrome.

Resumen

Methods: Retrospective observational study of consecutive sarcoma patients referred to our HCC unit between January 2007 and November 2025, with germline testing performed per clinical practice. Results:From 2007 to 2022, 22 sarcoma patients were referred to the HCC unit.Their median age was 46.5 years, and all met classic criteria for germline testing.PVs were identified in nine patients (40.9%).Between January 2023 and November 2025, 125 patients were evaluated in the HCC unit following the introduction of broader referral criteria.The median referral age was 38 years, with 68.8% under 45.Women accounted for 55.2% of patients.Among these, 43 met classical criteria for suspected hereditary predisposition (86% with suspected Li-Fraumeni syndrome).Germline testing was completed in 80 patients, including 37 individuals (46.3%) who would not have met the previous criteria for suspicion.PVs were identified in 8 patients (10%): 14% among those who fulfilled the classical criteria and 5.4% among those who did not.The detected PVs involved TP53 (n=2), as well as POT1, MUTYH, NF1, RB, MSH6 and PMS2 (one case each).Remarkably, two individuals with TP53 PVs (25% of all detected variants) would not have qualified for traditional testing, meaning their diagnoses would have been missed under the previous criteria. Conclusions:The expansion of referral criteria to include all patients under 45 years of age has led to an increase in germline testing at HCC unit, consequently resulting in an increase in PV diagnoses.This change has had a significant impact on clinical management and follow-up.

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