Scurini C, Quadro L, Fattoruso O, Verga U, Libroia A, Lupoli G, Cascone E, Marzano L, Paracchi S, Busnardo B, Girelli M E, Bellastella A, Colantuoni V
Istituto di Endocrinologia, Facoltà di Medicina, Seconda Università di Napoli, Italy.
Mol Cell Endocrinol. 1998 Feb;137(1):51-7. doi: 10.1016/s0303-7207(97)00234-7.
Medullary thyroid carcinomas (MTC) occur sporadically or as part of inherited multiple endocrine neoplasia (MEN) type 2 syndromes. To recognize misdiagnosed familial cases and to establish the frequency of somatic mutations, a series of 50 patients, clinically diagnosed with sporadic MTC, were analyzed for mutations in the RET proto-oncogene. The clinical management of the patient and of the family is different in the two cases. Germline mutations were detected in three independent cases, demonstrating that they were associated to familial MTC. The mutations affected exon 11 in two cases and exon 14 in one case. Somatic mutations were detected in eight patients (30%) and they were indicative of sporadic MTC. In seven cases the mutation affected codon 918 of exon 16 and in one case codon 634 in exon 11. No RET mutations were detected in the remaining patients. A different genetic and clinical management is proposed for individuals with a diagnosis of familial or sporadic MTC.
甲状腺髓样癌（MTC）可散发性发生，或作为遗传性多发性内分泌腺瘤（MEN）2型综合征的一部分出现。为了识别误诊的家族性病例并确定体细胞突变的频率，对一系列50例临床诊断为散发性MTC的患者进行了RET原癌基因突变分析。这两种情况下患者及其家族的临床管理有所不同。在三个独立病例中检测到胚系突变，表明它们与家族性MTC相关。两个病例中的突变影响外显子11，一个病例中的突变影响外显子14。在8名患者（30%）中检测到体细胞突变，这些突变提示为散发性MTC。7例中突变影响外显子16的密码子918，1例中突变影响外显子11的密码子634。其余患者未检测到RET突变。对于诊断为家族性或散发性MTC的个体，建议采用不同的遗传和临床管理方法。
