Calvo Javier, Torrealba Gabriel, Sáenz Adriana, Santamaría Carlos, Morera Estela, Alvarado Silvia, Roa Yolanda, González Michelle
Division of Endocrinology, Department of Internal Medicine, Hospital Rafael Ángel Calderón Guardia, San José, Costa Rica.
Neuromodulation Center, Spaulding Rehabilitation Hospital, Harvard Medical School, Boston, MA, USA.
J Cancer Epidemiol. 2016;2016:9637173. doi: 10.1155/2016/9637173. Epub 2016 Nov 27.
. Activating mutations in the gene leads to medullary thyroid carcinoma (MTC). Guidelines encourage performing analysis in subjects with hereditary and sporadic disease. . . Observational, case series report study. . Subjects diagnosed with MTC, with a thyroidectomy performed in a single center in Costa Rica between the years 2006 and 2015. . Pre- and postoperative calcitonin, mutation, and neck ultrasound and tomography were obtained. . 21 subjects with histological diagnosis of MTC were followed up. The average age at diagnosis was 52.0 ± 15.7 years. The preoperative mean value of calcitonin was 1340 ± 665 pg/mL. Evidence of mutation was found in 26.3% of the patients, with only 2 of them grouped in the same kindred. We found statistically significant differences in mean ages between mutated (38.4 ± 20.2 y) versus nonmutated (54.6 ± 11.8 y, = 0.04). There were no significant differences regarding tumor size, metastases, and surgical reintervention. . We report the results of mutation analysis in subjects with MTC in a single center of Costa Rica. The availability of this tool increases the probability of identifying familial MTC, with the benefit of detecting affected subjects and their relatives at an earlier age.
该基因的激活突变会导致甲状腺髓样癌（MTC）。指南鼓励对遗传性和散发性疾病患者进行该分析。……观察性病例系列报告研究。……2006年至2015年间在哥斯达黎加的一个单一中心接受甲状腺切除术且被诊断为MTC的患者。……获取术前和术后的降钙素、该基因突变情况以及颈部超声和断层扫描结果。……对21例经组织学诊断为MTC的患者进行随访。诊断时的平均年龄为52.0±15.7岁。术前降钙素的平均值为1340±665 pg/mL。26.3%的患者发现有该基因突变证据，其中只有2例属于同一家族。我们发现突变组（38.4±20.2岁）与未突变组（54.6±11.8岁，P = 0.04）的平均年龄存在统计学显著差异。在肿瘤大小、转移情况和手术再次干预方面没有显著差异。……我们报告了在哥斯达黎加一个单一中心对MTC患者进行该基因突变分析的结果。该工具的可用性增加了识别家族性MTC的可能性，有利于在更早年龄发现受影响的患者及其亲属。
