BRAF V600E在甲状腺乳头状癌FNA与FFPE样本中检测一致性及诊断价值OA

Objective To evaluate the concordance of BRAF V600E mutation detection between ultrasound-guided fine needle aspiration(FNA)samples and postoperative formalin-fixed paraffin-embedded(FFPE)samples in papillary thyroid carcinoma(PTC)and to explore its diagnostic value.Methods A total of 119 patients with patho⁃logically confirmed PTC who underwent thyroid surgery were enrolled.All patients underwent ultrasound-guided FNA preoperatively,and FFPE specimens were collected postoperatively.BRAF V600E mutations were detected in both FNA and FFPE samples using fluorescence PCR.The relationship between BRAF V600E mutation and the clinico⁃pathological characteristics of PTC was statistically analyzed to explore its diagnostic value,and the concordance of de⁃tection between FNA and FFPE samples was compared.Results The patients'ages ranged from 21 to 70 years,with a male-to-female ratio of 1∶3.1.There were 22 cases(18.5%)with a maximum tumor diameter≥1.0 cm and 97 cases(81.5%)with a diameter<1.0 cm;92 cases(77.3%)had a single focal mass,and 27 cases(22.7%)had multifocal masses;lymph node metastasis was present in 55 cases(46.2%).The overall concordance rate for BRAF V600E mutation between FNA and FFPE samples was 75.6%.Among the 44 cases with FNA cytology diagnosis cat⁃egories Ⅱ-Ⅳ,36 cases(81.8%)were FNA BRAF V600E mutant,and 8 cases were FNA BRAF V600E wild-type.All 8 FNA BRAF V600E wild-type cases were confirmed as FFPE BRAF V600E wild-type postoperatively,consistent with the FNA results.Among the 75 cases with FNA cytology diagnosis categories Ⅴ-Ⅵ,65 cases(86.7%)were FNA BRAF V600E mutant;the remaining 10 cases were FNA BRAF V600E wild-type,and 6 of these 10 cases were confirmed as FFPE BRAF V600E mutant upon postoperative testing.Conclusion There is a significant difference in the distribution of BRAF status based on FNA cytology diagnosis.However,the concordance between FNA and FFPE samples in determining BRAF V600E mutation status is limited,which may be related to various factors.For cytologi⁃cally indeterminate cases,a negative result should still be evaluated in conjunction with clinical high-risk features.If necessary,postoperative tissue review is recommended to reduce missed diagnoses.