Pompilus Farrah, Ciesluk Anna, Marquis Patrick, Griebsch Ingolf, Voorhaar Maarten
Modus Outcomes, Cambridge, MA, USA.
Boehringer Ingelheim, Frankfurt, Germany.
Oncol Ther. 2021 Dec;9(2):591-605. doi: 10.1007/s40487-021-00166-0. Epub 2021 Aug 6.
NUT (nuclear protein of the testis) carcinoma (NUTca) is a rare and aggressive cancer that is genetically hallmarked by a chromosomal abnormality in the NUT gene, and presents with tumors in the head, neck, and lungs. Currently there is no standard of care, but patients may undergo surgery, radiation, and/or chemotherapy. There is a lack of published research describing the patient experience of NUTca. The objective of this study was to develop a conceptual framework (CF) that describes patients' experience of NUTca to inform the selection of outcome measures and design of patient-centric endpoints for future clinical research.
Individual, semi-structured telephone interviews were conducted with patients and caregivers of patients who have/had NUTca (caregivers interviewed due to recruitment challenges resulting from the rarity of NUTca). Participants were asked about their disease symptoms, impacts, and treatment experience. Interviews were audio-recorded, transcribed, and analyzed using inductive coding. The CF was developed through inductive categorization of concepts, sub-domains, and domains.
Twenty-seven interviews were completed (patients n = 10; caregivers n = 17). Participants reported systemic symptoms (e.g., fatigue) and symptoms related to the location of the tumor (e.g., nose blockage for head/neck tumor). Pain emerged as an important and bothersome symptom across tumor locations. Participants reported impacts on their daily activities (e.g., showering), emotions (e.g., preoccupation), sleep, social life (e.g., isolation), roles (e.g., caring for children), and finances. The final CF was organized into four symptom domains [systemic, location-specific (head/neck, lung), pain, and digestive] and six impact domains (daily activities, emotional, sleep, social, role, and financial).
This study describes the patient experience of NUTca and proposes an evidence-based CF that informs both the clinical community's understanding of the disease and selection of a patient-reported outcome (PRO) measure to assess treatment benefit in future NUTca trials.
睾丸核蛋白（NUT）癌（NUTca）是一种罕见且侵袭性强的癌症，其基因特征为NUT基因的染色体异常，肿瘤多发生于头颈部和肺部。目前尚无标准治疗方案，但患者可接受手术、放疗和/或化疗。关于NUTca患者经历的已发表研究较少。本研究的目的是建立一个概念框架（CF），描述NUTca患者的经历，为未来临床研究中结局指标的选择和以患者为中心的终点设计提供参考。
对患有/曾患有NUTca的患者及其照顾者进行了个体半结构化电话访谈（由于NUTca罕见导致招募困难，故对照顾者进行了访谈）。参与者被问及他们的疾病症状、影响和治疗经历。访谈进行了录音、转录，并采用归纳编码进行分析。通过对概念、子领域和领域的归纳分类来构建CF。
共完成了27次访谈（患者10例；照顾者17例）。参与者报告了全身症状（如疲劳）和与肿瘤位置相关的症状（如头颈部肿瘤导致的鼻塞）。疼痛是各个肿瘤部位出现的一种重要且令人困扰的症状。参与者报告了疾病对他们日常活动（如洗澡）、情绪（如全神贯注）、睡眠、社交生活（如孤立）、角色（如照顾孩子）和财务状况的影响。最终的CF分为四个症状领域[全身、特定部位（头颈部、肺部）、疼痛和消化系统]和六个影响领域（日常活动、情绪、睡眠、社交、角色和财务）。
本研究描述了NUTca患者的经历，并提出了一个基于证据的CF，这有助于临床界了解该疾病，并为未来NUTca试验中评估治疗益处选择患者报告结局（PRO）指标提供参考。
