Section of Endocrinology, ASL 6 Livorno, Viale Afieri 36, Leghorn, Italy,
Endocrine. 2014 Apr;45(3):462-8. doi: 10.1007/s12020-013-0029-5. Epub 2013 Aug 8.
The mutation BRAF V600E is thought to be a putative prognostic marker of the aggressiveness of several cancers among which is also papillary thyroid cancer. Our study aimed to evaluate whether this mutation is associated with advanced stages of disease or with a worse prognosis in a series of patients with cytological findings of Thyr 4 and Thyr 5 and who were undergoing total thyroidectomy and routine central compartment lymph-node dissection. 110 patients were consecutively enrolled over an 18-month period from September 2010 to March 2012. All patients had cytological findings that were either indicative of, or positive for papillary thyroid cancer, Thyr 4 or Thyr 5. Detection of BRAF mutation was made on fine-needle aspiration specimen by pyrosequencing after microdissection and DNA extraction of neoplastic cells. After surgical intervention, the patients underwent radioiodine ablation according to our protocol, and follow-up was performed after 8 months. The BRAF V600E mutation was found in 79 % of our cases: 85.7 % of these cases represented the classical variant, 57.8 % the follicular variant, 89.6 % the tall cell variant, and 33.3 % the solid variant. All patients had confirmation of papillary thyroid cancer after histology, with no differences being seen in pTNM presentation between patients with BRAF wild-type and patients with BRAF V600E mutation. Ninety-nine patients underwent radioiodine ablation. Results at follow-up 8 months after radioiodine ablation showed no differences in the rate of ablation between patients harboring BRAF V600E mutation and those having BRAF wild-type. The BRAF V600E mutation doesn't appear to be a reliable risk factor for the aggressiveness of a tumor. BRAF analysis should neither be the only guide for pre-surgical decisions regarding the extent of surgery nor for post-surgical decisions regarding the aggressiveness of the treatment.
BRAF V600E 突变被认为是几种癌症侵袭性的一个潜在预后标志物，其中包括甲状腺乳头状癌。我们的研究旨在评估该突变是否与疾病的晚期或预后不良相关，在一组细胞学检查为 Thy4 和 Thy5 的患者中，这些患者接受了全甲状腺切除术和常规中央区淋巴结清扫术。2010 年 9 月至 2012 年 3 月期间，连续 18 个月共纳入 110 例患者。所有患者的细胞学检查结果均提示或阳性提示为甲状腺乳头状癌、Thy4 或 Thy5。在微切割和肿瘤细胞 DNA 提取后，通过焦磷酸测序在细针穿刺标本中检测 BRAF 突变。手术干预后，根据我们的方案对患者进行放射性碘消融，8 个月后进行随访。在我们的病例中发现 79%存在 BRAF V600E 突变：其中 85.7%为经典型，57.8%为滤泡型，89.6%为高细胞型，33.3%为实体型。所有患者在组织学上均证实为甲状腺乳头状癌，BRAF 野生型和 BRAF V600E 突变型患者的 pTNM 表现无差异。99 例患者接受放射性碘消融。在放射性碘消融后 8 个月的随访结果中，在 BRAF V600E 突变患者和 BRAF 野生型患者中，消融率无差异。BRAF 突变似乎不是肿瘤侵袭性的可靠危险因素。BRAF 分析既不应该是手术范围的术前决策的唯一指导因素，也不应该是治疗侵袭性的术后决策的唯一指导因素。
