Segall Grace, Singh Ravinder, Jen Min-Hua, Sanderson Isaac, Rider Alex, Lewis Katie, Kiiskinen Urpo
G Segall, Eli Lilly and Company, Indianapolis, United States.
R Singh, Eli Lilly and Company, Indianapolis, United States.
Eur Thyroid J. 2024 Jan 1;13(1). doi: 10.1530/ETJ-23-0172.
This study aimed to describe real-world patient and physician characteristics, rearranged during transfection (RET) mutation testing and results, treatment patterns, and patient-reported outcomes (PROs) in advanced or metastatic medullary thyroid cancer (aMTC) across five populous European countries.
Cross-sectional physician and patient surveys were used to collect quantitative and qualitative data in France, Germany, Italy, Spain, and the UK from July to December 2020, prior to the introduction of selective RET inhibitors in Europe. Physicians completed patient record forms and a survey about their specialty and practice site. Patients were asked to provide PRO data using four validated instruments, including the EuroQol 5 Dimension (EQ-5D) questionnaire.
The physician-reported sample included 275 patients with aMTC, including 79 patients with RET mutation-positive disease; median age was 60 and 56 years, respectively. Overall, 75% were tested for RET mutation (35% germline only, 21% somatic only, 44% both). Common physician-cited barriers to RET mutation testing included high cost, difficulty accessing latest tests, and time delay for results. First-line systemic therapy (most commonly vandetanib or cabozantinib) was prescribed for 69% of patients overall and 82% of the RET mutation-positive subgroup. Second-line therapy was prescribed for 12% of patients who received first-line therapy; most patients remained on first-line therapy at data capture. PROs revealed substantial disease/treatment burden.
Patients with aMTC report substantial disease/treatment burden. Outcomes could be improved by identifying patients eligible for treatment with selective RET inhibitors through more optimal RET mutation testing.
本研究旨在描述欧洲五个人口众多的国家中晚期或转移性甲状腺髓样癌（aMTC）患者和医生的真实特征、转染重排（RET）突变检测情况及结果、治疗模式和患者报告结局（PRO）。
在欧洲引入选择性RET抑制剂之前，于2020年7月至12月期间，采用横断面医生和患者调查在法国、德国、意大利、西班牙和英国收集定量和定性数据。医生填写患者记录表以及关于其专业和执业地点的调查问卷。患者被要求使用四种经过验证的工具提供PRO数据，包括欧洲五维健康量表（EQ-5D）问卷。
医生报告的样本包括275例aMTC患者，其中79例为RET突变阳性疾病患者；中位年龄分别为60岁和56岁。总体而言，75%的患者进行了RET突变检测（仅种系突变35%，仅体细胞突变21%，两者均有44%）。医生提到的RET突变检测常见障碍包括成本高、难以获得最新检测以及结果延迟。总体上69%的患者接受了一线全身治疗（最常见的是凡德他尼或卡博替尼），RET突变阳性亚组中这一比例为82%。接受一线治疗的患者中有12%接受了二线治疗；在数据收集时，大多数患者仍在接受一线治疗。PRO显示出相当大的疾病/治疗负担。
aMTC患者报告有相当大的疾病/治疗负担。通过更优化的RET突变检测来确定适合接受选择性RET抑制剂治疗的患者，可能会改善治疗结局。
