Endocrine Practice Heidelberg, Molecular Genetic Laboratory, Heidelberg, Germany.
Section of Endocrine Surgery, Department of General, Visceral and Transplantation Surgery, Medical Center, University Essen-Duisburg, Duisburg, Germany.
J Clin Endocrinol Metab. 2018 Jan 1;103(1):235-243. doi: 10.1210/jc.2017-01884.
Recent long-term outcomes and survival data are lacking for patients with multiple endocrine neoplasia type 2B (MEN2B).
To analyze long-term MEN2B outcomes and define prognostic factors.
DESIGN, SETTING, AND PARTICIPANTS: Retrospective comparative study of 75 patients with MEN2B from two German tertiary referral centers. Patients diagnosed and treated before and after 2000 were compared for demographic, biochemical, surgical, and outcome parameters.
Surgery.
Long-term survival.
We identified seven familial and 68 de novo cases of MEN2B; 61 exhibited the RET M918T genotype (2 others exhibited A883F and E768D/L790T mutations). Surgery was performed at a mean age of 16.4 ± 11.2 years. The tumor stages at diagnosis for 71 patients were stage I, 15%; stage II, 6%; stage III, 35%; and stage IV, 44%. The mean follow-up was 9.6 ± 9.0 years. The outcomes were 15 (20%) cured, 9 (12%) with minimal residual disease, 19 (25%) with metastatic disease, and 10 (13%) unknown. Medullary thyroid cancer (MTC) caused 22 deaths (29%) 7.3 ± 6.2 years after diagnosis (mean age, 22.9 ± 10.7 years). The overall survival rates at 5, 10, and 20 years were 85%, 74%, and 58%, respectively. After 2000 (vs before 2000), significantly more patients had stage I and II (32% vs 11%) and more were cured (43% vs 20%), with a higher survival trend (P = 0.058). The only prognostic factor was tumor stage at diagnosis.
Patients with MEN2B developed MTC at an early age with wide ranging aggressiveness, but the outcome was generally better after 2000 than before 2000.
目前缺乏关于多发性内分泌腺瘤病 2B 型（MEN2B）患者的长期结局和生存数据。
分析 MEN2B 的长期结局并确定预后因素。
设计、地点和参与者：对来自德国两个三级转诊中心的 75 例 MEN2B 患者进行回顾性比较研究。对比了 2000 年前和 2000 年后诊断和治疗的患者的人口统计学、生化、手术和结局参数。
手术。
长期生存。
我们发现了 7 例家族性和 68 例散发型 MEN2B；61 例患者存在 RET M918T 基因型（另 2 例存在 A883F 和 E768D/L790T 突变）。中位手术年龄为 16.4±11.2 岁。71 例患者的肿瘤分期为Ⅰ期（15%）、Ⅱ期（6%）、Ⅲ期（35%）和Ⅳ期（44%）。中位随访时间为 9.6±9.0 年。结局为 15 例（20%）治愈、9 例（12%）肿瘤残留较少、19 例（25%）存在转移、10 例（13%）情况未知。髓样甲状腺癌（MTC）导致 22 例死亡（29%），诊断后 7.3±6.2 年（平均年龄 22.9±10.7 岁）。5、10、20 年的总生存率分别为 85%、74%和 58%。2000 年后（vs2000 年前），Ⅰ期和Ⅱ期患者显著增多（32% vs11%），治愈患者更多（43% vs20%），且生存趋势较高（P=0.058）。唯一的预后因素是诊断时的肿瘤分期。
MEN2B 患者的 MTC 发病年龄较早，侵袭性较强，但 2000 年后的结局明显好于 2000 年前。
