Yip Linwah, Nikiforova Marina N, Carty Sally E, Yim John H, Stang Michael T, Tublin Mitchell J, Lebeau Shane O, Hodak Steven P, Ogilvie Jennifer B, Nikiforov Yuri E
Department of Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Surgery. 2009 Dec;146(6):1215-23. doi: 10.1016/j.surg.2009.09.011.
To date, a mutation of the BRAF oncogene is the most common genetic alteration found in papillary thyroid carcinoma (PTC) and is associated with extrathyroidal extension, lymph node metastasis, and tumor recurrence. It is not known whether pre-operative identification of BRAF mutations in cytologic specimens should alter surgical management.
From 2006 to 2008, the clinical, cytologic, and pathologic parameters of 106 consecutive surgically treated patients with BRAF-positive PTC were compared with a concurrent cohort of 100 patients with BRAF-negative PTC.
In all, 99 BRAF-positive PTC patients underwent initial treatment, and 7 BRAF-positive patients had surgical resection of recurrent/persistent PTC. BRAF mutations were identified on preoperative cytologic samples (31 patients) or after thyroidectomy (75 patients). All 31 patients with BRAF-positive fine-needle aspiration (FNA) had PTC at thyroidectomy (specificity 100%). At short-term follow-up, 11/106 BRAF-positive patients have required reoperation for recurrent/persistent disease compared with 3 BRAF-negative patients (P = .04). Preoperative knowledge of BRAF mutation positivity could have productively altered initial PTC surgical management in 24% of patients.
In PTC, BRAF mutations are associated with cervical recurrence and with reoperation. Pre-operative cytologic identification of BRAF mutation has high specificity and may guide the initial extent of thyroidectomy and node dissection.
迄今为止,BRAF癌基因的突变是在甲状腺乳头状癌(PTC)中发现的最常见的基因改变,并且与甲状腺外扩展、淋巴结转移及肿瘤复发相关。术前在细胞学标本中鉴定BRAF突变是否应改变手术治疗方案尚不清楚。
2006年至2008年,将106例连续接受手术治疗的BRAF阳性PTC患者的临床、细胞学和病理学参数与同期100例BRAF阴性PTC患者进行比较。
总共有99例BRAF阳性PTC患者接受了初始治疗,7例BRAF阳性患者接受了复发性/持续性PTC的手术切除。BRAF突变在术前细胞学样本中被鉴定出来(31例患者)或在甲状腺切除术后被鉴定出来(75例患者)。所有31例BRAF阳性细针穿刺(FNA)患者在甲状腺切除术中均被诊断为PTC(特异性100%)。在短期随访中,106例BRAF阳性患者中有11例因复发性/持续性疾病需要再次手术,而BRAF阴性患者中有3例(P = 0.04)。术前了解BRAF突变阳性情况可能会使24%的患者的初始PTC手术治疗方案得到有效改变。
在PTC中,BRAF突变与颈部复发及再次手术相关。术前细胞学鉴定BRAF突变具有高特异性,可能会指导甲状腺切除术和淋巴结清扫的初始范围。