Engelbach M, Kunt T, Kann P, Manfras B, Hankeln T, Forst T, Pfützner A, Heerdt S, Walgenbach S, Lehnert H, Beyer J
Klinik und Poliklinik Innere Medizin, Universität Mainz.
Dtsch Med Wochenschr. 2000 Jan 21;125(3):37-44. doi: 10.1055/s-2007-1023904.
When multiple endocrine neoplasia type 2 (MEN2) is suspected, genetic tests are at the centre of screening procedures. It was the aim of this study to compare the diagnostic value of molecular biological investigations with that of conventional biochemical tests.
The study cohort consisted of all 144 patients cared for in our department since 1990 with the suspected diagnosis of MEN2 (evidence of a medullary thyroid carcinoma [MTC]), coexistence of two MEN2 tumours or a family history of MEN2. 14 of the 144 patients (from 12 families) were already known to have an hereditary MTC, while the remaining 130 had been referred for further diagnostic investigations.
An hereditary MTC was diagnosed in 22 of the 130 patients, a sporadic MTC in 32, while no definitive classification was possible in 20 MTC patients without a positive family history and on whom no mutation analysis had been performed. MEN2 was excluded in 56 family members. All 22 patients with newly diagnosed MTC had abnormally high calcitonin levels. A germ-line mutation in the RET proto-oncogene was found in 8 of the 9 families who had undergone molecular biological tests. The investigate results led to a thyroidectomy in 19 of the 22 patients with hereditary MTC; in all of them the surgical specimen showed C-cell hyperplasia and/o MTC.
These results emphasize the importance of genetic tests in family screening. Preoperative measurement of calcitonin remains essential in MEN2 families in whom a germ-line mutation is not known. The choice of the appropriate diagnostic test must be individualized to the particular patients so that optimal results are obtained.
当怀疑有多发性内分泌肿瘤2型（MEN2）时，基因检测是筛查程序的核心。本研究旨在比较分子生物学检查与传统生化检查的诊断价值。
研究队列包括自1990年以来在我们科室接受治疗的所有144例疑似MEN2的患者（有甲状腺髓样癌[MTC]证据、共存两种MEN2肿瘤或有MEN2家族史）。144例患者中有14例（来自12个家族）已知患有遗传性MTC，其余130例已转诊进行进一步诊断检查。
130例患者中诊断出遗传性MTC 22例，散发性MTC 32例，而20例无阳性家族史且未进行突变分析的MTC患者无法进行明确分类。56名家庭成员被排除MEN2。所有22例新诊断的MTC患者降钙素水平均异常升高。在接受分子生物学检测的9个家族中的8个家族中发现了RET原癌基因的种系突变。研究结果导致22例遗传性MTC患者中的19例接受了甲状腺切除术；所有患者的手术标本均显示C细胞增生和/或MTC。
这些结果强调了基因检测在家族筛查中的重要性。对于未知种系突变的MEN2家族，术前降钙素测量仍然至关重要。必须根据特定患者个体化选择合适的诊断检查，以便获得最佳结果。
