Department of Thyroid Surgery, Fujian Medical University Union Hospital, Fuzhou, 350001, China.
Endocr Pathol. 2019 Dec;30(4):297-304. doi: 10.1007/s12022-019-09588-z.
RET proto-oncogene (RET) mutations were proved to be related to the development of medullary thyroid carcinoma (MTC). We aimed to analyze the role of RET mutations in cervical lymph node metastasis in patients with MTC. Forty-nine patients with preoperatively diagnosed MTC by fine-needle aspiration cytology (FNAC) who underwent bilateral total thyroidectomy with cervical lymphadenectomy were included. Postoperative RET gene test and pathological analysis were performed with the surgical specimens; serum calcitonin (Ctn) and carcinoembryonic antigen (CEA) levels were tested pre- and postoperatively, to evaluate the association between RET mutations and cervical lymph node metastasis in MTC. In these 49 patients, the RET mutation rates of Exon 11, Exon 10, Exon 11&13, Exon 13, and Exon 16 were 20.4%, 4.1%, 38.8%, 22.4%, and 0%, respectively. The lymph node metastasis rates of patients with RET mutation in the central and lateral compartments were 71.4% and 64.3%, respectively, versus 28.6% and 14.3% of patients without RET mutation. The preoperative basal serum levels of Ctn (234.8 ± 188.4 vs. 44.4 ± 27.5, p < 0.01) and postoperative Ctn (49.8 ± 86.4 vs. 3.7 ± 2.2, p = 0.001) in MTC patients with RET mutations were significantly higher than those in MTC patients without RET mutation. In addition, the preoperative (50.2 ± 76.7 vs. 7.4 ± 6.8, p = 0.001) and postoperative serum levels of CEA (13.2 ± 19.5 vs. 1.3 ± 1.6, p < 0.01) in MTC patients with RET mutations were significantly higher than those in MTC patients without RET mutation (p < 0.05). RET mutation was related to cervical lymph node metastasis in patients with MTC, especially the mutation in Exon 11&13. Patients with RET mutation in Exon 11&13 might be regarded as the predictor for prophylactic ipsilateral total cervical lymphadenectomy even without clear evidence of lateral cervical lymph node metastasis.
RET 原癌基因 (RET) 突变被证实与甲状腺髓样癌 (MTC) 的发生有关。本研究旨在分析 RET 突变在 MTC 患者颈淋巴结转移中的作用。对 49 例行细针抽吸细胞学 (FNAC) 术前诊断为 MTC 并行双侧全甲状腺切除术加颈淋巴结清扫术的患者进行研究。对手术标本进行术后 RET 基因检测和病理分析；术前和术后检测血清降钙素 (Ctn) 和癌胚抗原 (CEA) 水平，以评估 RET 突变与 MTC 颈淋巴结转移的关系。在这 49 例患者中，Exon 11、Exon 10、Exon 11&13、Exon 13 和 Exon 16 的 RET 突变率分别为 20.4%、4.1%、38.8%、22.4%和 0%。中央区和侧区有 RET 突变的患者淋巴结转移率分别为 71.4%和 64.3%，而无 RET 突变的患者淋巴结转移率分别为 28.6%和 14.3%。MTC 患者中，RET 突变组患者术前基础 Ctn（234.8±188.4 比 44.4±27.5，p<0.01）和术后 Ctn（49.8±86.4 比 3.7±2.2，p=0.001）水平显著高于无 RET 突变组患者。此外，RET 突变组患者术前（50.2±76.7 比 7.4±6.8，p=0.001）和术后 CEA（13.2±19.5 比 1.3±1.6，p<0.01）水平显著高于无 RET 突变组患者（p<0.05）。RET 突变与 MTC 患者的颈淋巴结转移有关，特别是 Exon 11&13 的突变。即使没有明确的侧颈淋巴结转移证据，Exon 11&13 突变的患者也可能被视为预防性同侧颈总淋巴结清扫术的预测指标。
