Simões-Pereira Joana, Bugalho Maria João, Limbert Edward, Leite Valeriano
Department of Endocrinology, Portuguese Institute of Oncology Francisco Gentil, Lisbon 1099-023, Portugal.
Oncol Lett. 2016 Jun;11(6):3870-3874. doi: 10.3892/ol.2016.4482. Epub 2016 Apr 20.
Familial cases of medullary thyroid carcinoma (MTC) may be diagnosed by genetic screening, while in sporadic tumors the diagnosis relies mainly on fine-needle aspiration cytology. The aim of the present study was to determine the demographic, clinical and pathological characteristics of MTC patients followed-up at the Portuguese Institute of Oncology Francisco Gentil (Lisbon, Portugal). For that purpose, a retrospective analysis of 140 MTC patients diagnosed between 1990 and 2010 was performed. The results indicated that patients with hereditary MTC (11.4%) were significantly younger than patients with sporadic MTC. Of the latter, 34.3% had no clinical suspicion of MTC prior to surgery. The sensitivity of cytology and calcitonin (CT) assay in diagnosing MTC were 51.3 and 98.7%, respectively. All familial index cases and 69.0% of sporadic cases presented with advanced stage disease at the time of diagnosis, while 73.0% of familial MTC detected by genetic/pentagastrin screening were diagnosed at the early stage of the disease. Biochemical cure (BC) was achieved in 39.7% of patients and, of these, only 6.5% relapsed. The 5 and 10-year survival rates were 79.3 and 73.6%, respectively. Age >45 years (P=0.026), advanced stage at diagnosis (P<0.001) and absence of BC (P<0.001) were predictors of a worse prognosis on univariate analysis. However, when the patients detected by genetic/pentagastrin screening were excluded from the analysis, age was no longer a prognostic factor, although disease stage remained a significant prognostic factor. On multivariate analysis, BC was the only factor with a significant impact on prognosis (P=0.031). In addition, the present study confirmed that the majority of patients were diagnosed at advanced stages, and CT determination was observed to be more sensitive than cytology to diagnose MTC. Patients at early stages were more prone to achieve BC, which was a favorable prognostic factor. To the best of our knowledge, the present study reports for the first time that age at diagnosis is not a predictor of survival for patients with MTC when cases diagnosed by genetic/pentagastrin screening (who are usually young patients at the initial stages of the disease), are excluded from the analysis.
甲状腺髓样癌（MTC）的家族性病例可通过基因筛查进行诊断，而散发性肿瘤的诊断主要依靠细针穿刺细胞学检查。本研究的目的是确定在葡萄牙里斯本弗朗西斯科·根蒂尔肿瘤研究所接受随访的MTC患者的人口统计学、临床和病理特征。为此，对1990年至2010年间确诊的140例MTC患者进行了回顾性分析。结果表明，遗传性MTC患者（11.4%）明显比散发性MTC患者年轻。在散发性MTC患者中，34.3%在手术前没有MTC的临床疑似症状。细胞学检查和降钙素（CT）检测诊断MTC的敏感性分别为51.3%和98.7%。所有家族性索引病例和69.0%的散发性病例在诊断时呈现晚期疾病，而通过基因/五肽胃泌素筛查检测到的家族性MTC中有73.0%在疾病早期被诊断出来。39.7%的患者实现了生化治愈（BC），其中只有6.5%复发。5年和10年生存率分别为79.3%和73.6%。单因素分析显示，年龄>45岁（P=0.026）、诊断时处于晚期（P<0.001）和未实现BC（P<0.001）是预后较差的预测因素。然而，当通过基因/五肽胃泌素筛查检测到的患者被排除在分析之外时，年龄不再是一个预后因素，尽管疾病阶段仍然是一个显著的预后因素。多因素分析显示，BC是唯一对预后有显著影响的因素（P=0.031）。此外，本研究证实大多数患者在晚期被诊断出来，并且观察到CT测定在诊断MTC方面比细胞学检查更敏感。早期患者更容易实现BC，这是一个有利的预后因素。据我们所知，本研究首次报告，当排除通过基因/五肽胃泌素筛查诊断的病例（这些病例通常是疾病初期的年轻患者）时，诊断时的年龄不是MTC患者生存的预测因素。
