OBJECTIVES : NUT Carcinoma (NUTca) is a rare and aggressive squamous cell carcinoma with poor prognosis that can form anywhere in the body, but often in the head, neck, or lungs. Little is known about the signs and symptoms experienced by patients except for the heterogeneous nature of its manifestations; therefore, conceptualizing the patient experience is essential to inform patient-centered outcome assessment. This study aimed to develop a conceptual framework of symptoms and impact on health-related quality of life experienced by NUTCa patients.

METHODS : The conceptual framework was based on a thematic analysis of the symptoms and impacts reported by NUTca patients across two sources: (1) qualitative studies published in PubMed, advocacy websites, and social media posts and (2) qualitative interviews with US-based NUTca patients recruited through a Facebook™ online support group. Since NUTca is a rare carcinoma with short life expectancy, caregivers were also interviewed. US-based practicing clinicians provided input on the framework.

RESULTS : No concepts arose from published qualitative literature and 16 concepts were extracted from social media posts and websites. Ten patients (mean age 39 years ±4.6; 50% female) and 17 caregivers (mean age 45 years ±9,2; 88% female) were interviewed. A wide range of symptoms and impacts were reported. The framework encompassed the following themes that emerged from the analysis of symptom-related codes: location specific symptoms (lung, head and neck, and other), pain, and systemic effects (e.g. weakness, fatigue, and weight loss). Themes that emerged from analysis of impact-related codes include daily activities, emotions, sleep, social life, roles, and finances.

CONCLUSIONS : We developed a conceptual framework addressing the heterogeneity of NUTca manifestations with localized and systemic symptoms along with general impacts on quality of life. The evidence generated from this qualitative study inform the design a patient-reported outcome assessment for use in future NUTca clinical trials.