Patient and Tumor Factors Influencing Diagnostic Trajectories in Gastrointestinal Stromal Tumor Patients and Their Impact on Health-Related Quality of Life: A Dutch Multicenter Study

BACKGROUND: Delays in diagnosis are common in rare cancers, but their frequency and impact in gastrointestinal stromal tumors (GISTs)-one of the most prevalent sarcoma subtypes-are unknown. This study aimed to (1) quantify patient- and diagnostic-related intervals, (2) identify factors influencing interval length, and (3) assess their impact on health-related quality of life (HRQoL). PATIENTS AND METHODS: Patients with GIST diagnosed in the Netherlands between 2008 and 2018 completed a questionnaire assessing time to diagnosis, impact of the diagnostic trajectory, and HRQoL. Univariable logistic regression analyses identified associated patient and tumor characteristics. RESULTS: Among 328 patients (median 5.9 years after diagnosis), 28% reported a patient interval of ≥ 1 month and 14% ≥ 3 months. Diagnostic intervals were longer, with 43% ≥ 1 month and 20% ≥ 3 months. Prolonged diagnostic intervals were more common among female patients and those with small-intestinal GISTs or mid-sized tumors (OR 1.67, 95% CI 1.06-2.64; OR 1.83, 95% CI 1.07-3.16; OR 2.11, 95% CI 1.09-4.14). A total of 20% reported that the diagnostic trajectory negatively impacted their well-being. Actual interval length was not correlated with HRQoL. However, patients perceiving a negative impact had lower HRQoL scores and more often experienced prolonged intervals (68%) than patients reporting no or positive impact (p < 0.001). Perceived delay was commonly associated with psychological distress and prolonged physical limitations, often persisting long after diagnosis. CONCLUSIONS: Diagnostic intervals were prolonged in nearly half of patients with GIST, particularly in female patients and those with small-intestinal tumors or mid-sized tumors. Perceived, rather than actual, interval duration was associated with lower HRQoL, underscoring the importance of patient experience during the diagnostic trajectory.