Abstract：
Background: Cytological limitations pose a challenge to preoperative diagnosis of medullary thyroid carcinoma (MTC) and therefore, a significant subset of patients is only diagnosed postoperatively. The objective of this study was to investigate the impact of knowledge of a preoperative MTC diagnosis on disease management and outcomes. Methods: Multicenter, retrospective, cohort study of MTC patients treated in Israel from January 2000 to June 2021. We compared cohorts of patients according to the presence or absence of a preoperative MTC diagnosis. Results: Ninety-four patients with histologically confirmed MTC were included (mean age 56.2 ± 14.3 years, 43% males). Fifty-three patients (56%) had a preoperative MTC diagnosis (preop-Dx group), and 41 (44%) were confirmed only postoperatively (no-Dx group). The extent of surgical resection, including completion procedures, was as follows: total thyroidectomy in 83% versus 100% (p = 0.002), central lymph node dissection (LND) in 46% versus 98% (p < 0.001), ipsilateral lateral LND in 36% versus 79% (p < 0.001), and contralateral lateral LND in 17% versus 28% (NS), in the no-Dx versus the preop-Dx group, respectively. Pathology confirmed a smaller median tumor size of 16 ± 17.4 mm versus 23 ± 14.0 mm (p = 0.09), a higher proportion of micro-MTC (size ≤10 mm) 32% versus 15% (p = 0.03), and a higher rate of co-occurrence of follicular cell-derived carcinoma 24% versus 4% (p = 0.003), in the no-Dx compared to the preop-Dx group, respectively. The rates of extrathyroidal and extranodal tumor extension were not significantly different between the groups. At the last follow-up, the biochemical cure was attained in 55% [CI 0.38-0.71] compared to 64% [CI 0.50-0.77] of the no-Dx and the preop-Dx group, respectively (p = 0.41). After the exclusion of patients with micro-MTC, biochemical cure was more commonly achieved in the preop-Dx group (33% [CI 0.14-0.52] vs. 62% [CI 0.46-0.77], p = 0.04). Preop-Dx patients had improved overall survival compared to the no-Dx group (log-rank p = 0.04) over a median follow-up of 82 months (interquartile range [IQR] 30-153). Conclusions: Preoperatively, the diagnosis of MTC is often missed. An accurate preoperative diagnosis of MTC may enable guideline-concordant surgical treatment and ultimately contribute to an overall survival benefit in MTC patients.
摘要：
背景：细胞学限制对甲状腺髓样癌（MTC）的术前诊断提出了挑战，因此，相当一部分患者仅在术后诊断.这项研究的目的是调查术前MTC诊断知识对疾病管理和结果的影响。方法：多中心，回顾性,2000年1月至2021年6月在以色列接受治疗的MTC患者的队列研究。我们根据术前是否有MTC诊断对患者进行了比较。结果：纳入94例经组织学证实的MTC患者（平均年龄56.2±14.3岁，43%的男性）。53例患者（56%）术前诊断为MTC（术前Dx组），41例(44%)仅在术后(无Dx组)得到确认.手术切除的程度，包括竣工程序，结果如下：甲状腺全切除术占83%对100%(p=0.002)，中央区淋巴结清扫术（LND）为46%对98%（p<0.001），同侧外侧LND为36%对79%(p<0.001)，对侧外侧LND为17%对28%(NS)，在no-Dx与preop-Dx组中，分别。病理证实，中位肿瘤大小较小，为16±17.4mm，而23±14.0mm（p=0.09），较高比例的微MTC（尺寸≤10毫米）32%对15%（p=0.03），滤泡细胞衍生癌的共同发生率为24％比4％（p=0.003），在no-Dx与preop-Dx组相比，分别。两组之间的甲状腺外和结外肿瘤扩展率没有显着差异。在最后一次随访中，生化治愈在55%[CI0.38-0.71]中达到，而非Dx和术前Dx组则为64%[CI0.50-0.77]，分别(p=0.41)。排除微MTC患者后，术前Dx组更常实现生化治愈(33%[CI0.14-0.52]vs.62%[CI0.46-0.77]，p=0.04)。与无Dx组（log-rankp=0.04）相比，术前Dx组患者的总生存率提高了82个月（四分位距[IQR]30-153）。结论:术前,MTC的诊断经常被漏诊。MTC的准确术前诊断可以实现与指南一致的手术治疗，并最终有助于MTC患者的整体生存获益。
