Vasen H F, Nieuwenhuijzen Kruseman A C, Berkel H, Beukers E K, Delprat C C, Van Doorn R G, Geerdink R A, Haak H R, Hackeng W H, Koppeschaar H P
Foundation for the Detection of Hereditary Tumors, Utrecht, The Netherlands.
Am J Med. 1987 Nov;83(5):847-52. doi: 10.1016/0002-9343(87)90641-3.
Since 1975, 10 families with the multiple endocrine neoplasia (MEN)-2A syndrome and five with the MEN-2B syndrome, making a total of 101 patients, have been identified in The Netherlands. Twenty-three of the MEN-2A patients died before the start of the screening program. The average age of the patients whose death was due to pheochromocytoma (n = 11) or medullary thyroid carcinoma (n = 12) was 34.9 and 49.2 years, respectively. Eighty-seven patients with the MEN-2A syndrome and eight with the MEN-2B syndrome underwent thyroidectomy for C-cell hyperplasia and/or medullary thyroid carcinoma. Eighteen patients had signs or symptoms caused by MEN-2A (group A), 60 were relatives of these patients who had been found to be affected at the first screening of the family (group B), and nine relatives had had negative screening results that later became positive (group C). Five patients had signs or symptoms due to MEN-2B (group A) and three were relatives of these patients who had been found to be affected at the initial screening (group B). To assess the effect of screening, we compared these groups with respect to the occurrence of metastatic medullary thyroid carcinoma at thyroidectomy and the results of the postoperative calcitonin tests. Among the MEN-2A families, 72 percent of group A, 33 percent of group B, and none of group C were found to have metastatic medullary thyroid carcinoma at surgery. In the MEN-2B families, all five patients in group A and one of the three patients in group B had metastatic disease. The "cure rates" in these three groups with MEN-2A, as determined by stimulated calcitonin assessment, were 11, 57, and 100 percent, respectively. One of the five patients with MEN-2B in group A and two of the three patients in group B showed normalization of the stimulated calcitonin value after surgery. From these results, it may be concluded that screening can lead to the detection of medullary thyroid carcinoma in an earlier stage, which in turn may permit curative treatment and improvement of both prognosis and life expectancy. The need for supervision of affected families by central registration to promote periodic examination and to guarantee the continuity of such screening is discussed.
自1975年以来，荷兰已确诊10个患有多发性内分泌腺瘤病（MEN）-2A综合征的家庭和5个患有MEN-2B综合征的家庭，共计101名患者。23名MEN-2A患者在筛查项目开始前死亡。因嗜铬细胞瘤（n = 11）或甲状腺髓样癌（n = 12）死亡的患者平均年龄分别为34.9岁和49.2岁。87名MEN-2A综合征患者和8名MEN-2B综合征患者因C细胞增生和/或甲状腺髓样癌接受了甲状腺切除术。18名患者有MEN-2A引起的体征或症状（A组），60名是这些患者的亲属，他们在家族首次筛查时被发现患病（B组），9名亲属筛查结果最初为阴性，后来转为阳性（C组）。5名患者有MEN-2B引起的体征或症状（A组），3名是这些患者的亲属，他们在初次筛查时被发现患病（B组）。为了评估筛查的效果，我们比较了这些组在甲状腺切除术中甲状腺髓样癌转移的发生率以及术后降钙素检测结果。在MEN-2A家庭中，A组72%、B组33%的患者在手术时被发现有甲状腺髓样癌转移，C组无一例。在MEN-2B家庭中，A组的所有5名患者和B组的3名患者中的1名有转移疾病。通过刺激降钙素评估确定，这三组MEN-2A患者的“治愈率”分别为11%、57%和100%。A组5名MEN-2B患者中的1名和B组3名患者中的2名术后刺激降钙素值恢复正常。从这些结果可以得出结论，筛查可以在更早阶段发现甲状腺髓样癌，这反过来可能允许进行根治性治疗，并改善预后和预期寿命。文中讨论了通过中央登记对受影响家庭进行监督以促进定期检查并保证此类筛查连续性的必要性。
