Background:The incidence of thyroid cancer has rapidly increased worldwide, and familial aggregation of the disease has been increasingly recognized. This study aimed to evaluate the prevalence, clinicopathological characteristics, and long-term outcomes of familial non-medullary thyroid cancer (FNMTC) in a large institutional cohort.Methods:Patients with non-medullary thyroid cancer (NMTC) who had undergone surgery were classified as sporadic NMTC (SNMTC) or FNMTC based on family history. Clinicopathological features at diagnosis and surgery were compared, and prognostic outcomes were analyzed in patients with follow-up data.Results:Among the 46,572 NMTC patients, 3829 (8.2%) had FNMTC, and 42,743 (91.8%) had SNMTC. FNMTC was more prevalent in women and occurred at a younger age. Its proportion increased over time, peaking in the 35–59 age group. FNMTC showed higher rates of bilaterality (23.5% vs. 17.5%,p< 0.001), multifocality (39.0% vs. 30.5%,p< 0.001), and central lymph node metastasis (41.5% vs. 38.8%,p= 0.001), despite smaller tumors (0.9 ± 0.7 cm vs. 1.0 ± 0.9 cm,p< 0.001). Recurrence rates were similar between the two groups (1.9% vs. 2.3%,p= 0.1), but overall survival was higher in the FNMTC group (99.6% vs. 98.6%,p< 0.001). Family history, extracapsular extension, lymph node metastasis, and tumor size independently predicted recurrence. Family history significantly impacted recurrence-free survival in the intermediate-to-high-risk group (HR = 1.65,p< 0.001) but not in low-risk patients.Conclusions:FNMTC represents a distinct NMTC subset with more extensive local disease but favorable survival, warranting risk-adapted management, particularly for intermediate-to-high-risk patients.
背景：甲状腺癌的发病率在全球范围内迅速上升，其家族聚集现象日益受到关注。本研究旨在通过大型机构队列评估家族性非髓样甲状腺癌（FNMTC）的患病率、临床病理特征及长期预后。 方法：根据家族史，将接受手术的非髓样甲状腺癌（NMTC）患者分为散发性NMTC（SNMTC）或FNMTC。比较两组患者在诊断和手术时的临床病理特征，并对有随访数据的患者进行预后分析。 结果：在46,572例NMTC患者中，3829例（8.2%）为FNMTC，42,743例（91.8%）为SNMTC。FNMTC在女性中更为常见，且发病年龄更早。其比例随时间推移逐渐增加，在35-59岁年龄组达到峰值。尽管FNMTC的肿瘤体积较小（0.9 ± 0.7 cm vs. 1.0 ± 0.9 cm，p < 0.001），但其双侧性（23.5% vs. 17.5%，p < 0.001）、多灶性（39.0% vs. 30.5%，p < 0.001）及中央区淋巴结转移率（41.5% vs. 38.8%，p = 0.001）均显著高于SNMTC。两组复发率相近（1.9% vs. 2.3%，p = 0.1），但FNMTC组的总生存率更高（99.6% vs. 98.6%，p < 0.001）。家族史、包膜外侵犯、淋巴结转移和肿瘤大小是复发的独立预测因素。在中高危患者中，家族史显著影响无复发生存期（HR = 1.65，p < 0.001），而在低危患者中无显著影响。 结论：FNMTC是NMTC的一个独特亚型，具有更广泛的局部病变但预后良好，需要根据风险分层进行个体化管理，尤其对于中高危患者。
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