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Year : 2018  |  Volume : 131  |  Issue : 4  |  Page : 395-401

Familial Nonmedullary Thyroid Carcinoma: A Retrospective Analysis of 117 Families

1 Department of Head and Neck Surgery, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China
2 Department of Rehabilitation Medicine, China Meitan General Hospital, Beijing 100028, China

Correspondence Address:
Dr. Zheng-Jiang Li
Department of Head and Neck Surgery, National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0366-6999.225054

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Background: The first and most important step in characterizing familial nonmedullary thyroid carcinoma (NMTC) is to distinguish the true familial patients, which is the prerequisite for all accurate analyses. This study aimed to investigate whether patients from families with ≥3 first-degree relatives affected with NMTC have different characteristics than patients from families with only two affected members, and to compare these patients with those with sporadic disease. Methods: We analyzed the clinicopathological features and prognosis of 209 familial and 1120 sporadic cases of NMTC. Familial patients were further divided into two subgroups: families with two affected members and families with ≥3 affected members. Results: The familial group had a significantly higher risk of bilateral growth, multifocality, extrathyroidal extension, and lateral lymph node metastasis than the sporadic group (P < 0.05). These main features were also different between the group with ≥3 affected members and the sporadic group. The only difference between the two affected members' group and the sporadic group was incidence of multifocality (P < 0.05). The probability of disease recurrence in patients from families with ≥3 affected members was significantly higher than that in sporadic cases (14.46% vs. 5.27%; P = 0.001), while the probability in patients from families with two affected members was similar to that in sporadic patients (6.35% vs. 5.27%; P = 0.610). The Kaplan–Meier survival analysis showed a statistically significant difference in disease-free survival between the two subgroups (85.54% vs. 93.65%; P = 0.045). Conclusions: Patients from families with ≥3 members affected by NMTC have more aggressive features and a worse prognosis than those from families with only two affected members. Patients from families with ≥3 affected first-degree relatives may be considered to have true familial NMTC.


 Abstract in Chinese



目的: 分析家族性甲状腺非髓样癌 (NMTC) 中具有3名或3名以上患者的家系与只有2名患者的家系在临床病理学及预后方面是否存在差异, 并将这两种家系分别与散发性患者进行对比, 探讨两者之间在临床特征方面的不同。

方法: 回顾性分析2005年1月至2016年12月于我院头颈外科同一手术组行初次手术治疗的209例家族性NMTC患者及1120例散发性NMTC患者, 将家族性患者进一步分为两个亚组: 只有2名患者的家系 (简称2名患者组) 及≥名患者的家系 (简称≥称名患者组), 分析这些患者在临床病理学及预后方面的差异。

结果: 家族性患者的双侧叶病变、多灶、甲状腺外侵犯及侧颈淋巴结转移的发生率明显高于散发性患者 (P < 0.05), 这些特征也是≥3名患者组与散发性患者间的主要差异 (P < 0.05), 而2名患者组与散发性患者间的唯一不同特征就是多灶的发生率 (P < 0.05)。 ≥3名患者组的疾病复发率明显高于散发性患者 (14.46% vs. 5.27%; P = 0.001), 而2名患者组的疾病复发率与散发性患者相似 (6.35% vs. 5.27%; P = 0.610)。 生存分析显示≥3名患者组的无病生存率明显低于2名患者组, 差异有统计学意义 (85.54% vs. 93.65%; P = 0.045)。

结论: 家族性甲状腺非髓样癌中≥3名患者的家系与只有2名患者的家系相比, 肿瘤恶性程度更高, 预后更差。 具有3名或3名以上甲状腺非髓样癌患者的家系或许才是真正的家族性肿瘤。

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