Marchesi M, Biffoni M, Faloci C, Cresti R, Mariotti F, Gandini O
Cattedra di Chirurgia Generale, Università di Roma La Sapienza.
Ann Ital Chir. 2001 May-Jun;72(3):267-72.
The Authors report 9 patients who were affected by familial papillary carcinoma of thyroid These patients were members of 4 families and they were selected in a general group of 97 patients affected by papillary cancer of the thyroid who underwent surgery from 1991 to 1998. The 9 patients were 1st degree relatives: two sisters, two sisters, two sisters and three brothers. The clinical course was similar in patients whether familiar or sporadic group, but average age in first was 10 yrs lower than in the latter group. Functional cervical dissection was needed only one time by lymphatic metastasis. Observed survival was 100% (follow up 92-16 months) and no specific complication was reported. Thyreoglobulin value was less than normal in every patients. Ret linkage analysis was always performed and no rearrangement was found; in 4 patients APC gene was detected but it was never seen. Case studies are consistent with an autosomal dominant trait that shows an high penetrance if associated with a permissive codominant trait. The authors believe that are necessary further studies on this occurrence. In papillary thyroid cancer familiarity was observed in 9.6%, than authors propose that relatives of thyroid papillary cancer should be underwent to screening.
作者报告了9例患有家族性甲状腺乳头状癌的患者。这些患者是4个家族的成员，他们是从1991年至1998年接受手术的97例甲状腺乳头状癌患者的总体中挑选出来的。这9例患者均为一级亲属：两对姐妹、两对姐妹和三兄弟。无论是家族性还是散发性患者，其临床病程相似，但家族性患者的平均年龄比散发性患者低10岁。仅1例因淋巴结转移需要进行功能性颈清扫术。观察到的生存率为100%（随访92至16个月），未报告任何特定并发症。每位患者的甲状腺球蛋白值均低于正常水平。总是进行Ret连锁分析，未发现重排；在4例患者中检测到APC基因，但从未见过。病例研究与常染色体显性性状一致，如果与允许的共显性性状相关，则显示出高外显率。作者认为有必要对这种情况进行进一步研究。在甲状腺乳头状癌中，家族性发生率为9.6%，因此作者建议甲状腺乳头状癌患者的亲属应接受筛查。
