Capezzone M, Marchisotta S, Cantara S, Busonero G, Brilli L, Pazaitou-Panayiotou K, Carli A F, Caruso G, Toti P, Capitani S, Pammolli A, Pacini F
Section of Endocrinology and Metabolism, Department of Internal Medicine, Endocrinology and Metabolism and Biochemistry, University of Siena, Policlinico Santa Maria alle Scotte, Viale Bracci 1, 53100 Siena, Italy.
Endocr Relat Cancer. 2008 Dec;15(4):1075-81. doi: 10.1677/ERC-08-0080. Epub 2008 Oct 2.
Non-medullary thyroid carcinoma (NMTC) is mostly sporadic, but familial clustering is described. We aimed to compare the features of patients with sporadic and familial NMTC (FNMTC) patients and to assess whether FNMTC patients with parent-child relationship exhibit the 'anticipation' phenomenon (earlier age at disease onset and increased severity in successive generations). Among 300 NMTCs followed in the Section of Endocrinology (University of Siena, Italy), 34 (11.3%) patients, all with the papillary histotype, (16 kindred), met the criteria of FNMTC. Twenty-seven of them (79.4%) exhibited a parent-child relationship and seven (20.6%) a sibling relationship. These patients were compared with 235 patients with sporadic papillary thyroid cancer (PTCs). To analyze the features of FNMTC of the first and second generations, we cumulated the series of Siena with 32 additional FNMTC patients (15 kindred) from the Department of Endocrinology-Endocrine Oncology, Thessaloniki, Greece. Significant difference between sporadic PTC and FNMTC patients included more frequent tumor multifocality (P=0.001) and worse final outcome in FNMTC patients (P=0.001). Among 47 FNMTC with parent-child relationship, we found an earlier age at disease presentation (P<0.0001), diagnosis (P<0.0001), and disease onset (P=0.04) in the second generation when compared with the first generation. Patients in the second generation were more frequently males (P=0.02); their tumors were more frequently multifocal (P=0.003) and bilateral (P=0.01), had higher rate of lymph node metastases at surgery (P=0.02) and worse outcome (P=0.04) when compared with the first generation. In conclusion, FNMTC displays the features of clinical 'anticipation' with the second generation acquiring the disease at an earlier age and having more advanced disease at presentation.
非髓样甲状腺癌（NMTC）大多为散发性，但也有家族聚集现象的描述。我们旨在比较散发性NMTC患者与家族性NMTC（FNMTC）患者的特征，并评估有亲子关系的FNMTC患者是否表现出“遗传早现”现象（发病年龄提前且后代病情加重）。在意大利锡耶纳大学内分泌科随访的300例NMTC患者中，34例（11.3%）患者，均为乳头状组织学类型，（16个家族）符合FNMTC标准。其中27例（79.4%）表现为亲子关系，7例（20.6%）为兄弟姐妹关系。将这些患者与235例散发性乳头状甲状腺癌（PTC）患者进行比较。为分析第一代和第二代FNMTC的特征，我们将锡耶纳的病例系列与希腊塞萨洛尼基内分泌 - 内分泌肿瘤学系另外32例FNMTC患者（15个家族）合并。散发性PTC患者与FNMTC患者之间的显著差异包括肿瘤多灶性更常见（P = 0.001）以及FNMTC患者的最终结局更差（P = 0.001）。在47例有亲子关系的FNMTC患者中，我们发现第二代患者在疾病表现（P < 0.0001）、诊断（P < 0.0001）和发病（P = 0.04）方面的年龄比第一代更早。与第一代相比，第二代患者男性更常见（P = 0.02）；他们的肿瘤多灶性（P = 0.003）和双侧性（P = 0.01）更常见，手术时淋巴结转移率更高（P = 0.02），结局更差（P = 0.04）。总之，FNMTC表现出临床“遗传早现”的特征，第二代发病年龄更早且发病时病情更严重。
