Musholt T J, Musholt P B, Petrich T, Oetting G, Knapp W H, Klempnauer J
Department of Visceral and Transplantation Surgery, Hannover University Medical School, Carl-Neuberg-Strasse 1, 30625 Hannover, Germany.
World J Surg. 2000 Nov;24(11):1409-17. doi: 10.1007/s002680010233.
Hereditable predisposition to papillary thyroid carcinoma (PTC) and multinodular goiter (MNG) without evidence of an association with other malignancies as a distinct entity was recognized only recently. A meta-review of the literature on familial PTC (FPTC) was undertaken, and characteristics of families with frequent occurrence of PTC or MNG (or both) were summarized. A database on thyroid cancer patients maintained in our institution was searched for potential FPTC families. Clinical examinations were performed in 6 of 12 Hannover kindreds identified, and blood samples of all family members were collected for genetic analyses. Clinical presentations and histopathologic features of the FPTC cases were compiled. Based on the FPTC meta-review and own experience, predictive criteria to identify families at risk were developed: Exclusion criteria were previous radiation exposure and coincidence with neoplasia syndromes. Primary criteria for susceptibility to FPTC are (1) PTC in two or more first-degree relatives and (2) MNG in at least three first- or second-degree relatives of a PTC patient. Secondary criteria are diagnosis in a patient younger than 33 years, multifocal or bilateral PTC, organ-exceeding tumor growth (T4), metastasis (N1, M1), and familial accumulation of adolescent-onset thyroid disease. A hereditary predisposition to PTC is considered if both primary criteria or one primary criterion plus three secondary criteria are present. Family history-taking is recommended for all PTC patients to identify FPTC kindreds at risk. Blood relatives of FPTC index patients who harbor MNG should undergo thorough and regular clinical screening. Suspicious lesions should prompt early surgical intervention.
乳头状甲状腺癌（PTC）和多结节性甲状腺肿（MNG）的可遗传易感性作为一种独特的实体，直到最近才被认识到，且尚无证据表明其与其他恶性肿瘤有关联。我们对家族性PTC（FPTC）的文献进行了荟萃综述，并总结了PTC或MNG（或两者）频繁发生的家族特征。在我们机构维护的甲状腺癌患者数据库中搜索潜在的FPTC家族。对确定的12个汉诺威家族中的6个进行了临床检查，并采集了所有家庭成员的血样进行基因分析。汇编了FPTC病例的临床表现和组织病理学特征。基于FPTC的荟萃综述和自身经验，制定了识别高危家族的预测标准：排除标准为既往有辐射暴露史以及与肿瘤综合征并存。FPTC易感性的主要标准为：（1）两个或更多一级亲属患PTC；（2）PTC患者的至少三个一级或二级亲属患MNG。次要标准为患者年龄小于33岁、多灶性或双侧PTC、肿瘤生长超过器官范围（T4）、转移（N1，M1）以及青少年期甲状腺疾病的家族聚集。如果存在两个主要标准或一个主要标准加三个次要标准，则考虑PTC存在遗传易感性。建议对所有PTC患者进行家族史调查，以识别有风险的FPTC家族。患有MNG的FPTC索引患者的血亲应接受全面且定期的临床筛查。可疑病变应促使早期手术干预。
