Section of Endocrinology and Metabolism, Department of Medicine, Taipei Veterans General Hospital, Taipei, Taiwan.
School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Medicine (Baltimore). 2024 Aug 23;103(34):e39364. doi: 10.1097/MD.0000000000039364.
Molecular testing is becoming more widely used; however, the accuracy of diagnostic testing remains a primary consideration, especially for molecular testing that detects specific mutations associated with cancers.
A 45-year-old female without documented comorbidities presented a thyroid nodule during a routine health examination. Initial evaluation revealed a 3.8-cm nodule in the left lobe of thyroid, classified as Bethesda System category III on fine needle aspiration cytology. Genetic molecular testing detected the BRAF V600E mutation via quantitative polymerase chain reaction assay, raising concern for papillary thyroid cancer (PTC).
The preoperative impression was PTC based on the detection of BRAF V600E mutation.
The patient underwent thyroidectomy as well as lymph node dissection with the expectation to treat PTC.
The final pathology unexpectedly revealed minimally invasive follicular carcinoma. Confirmatory Sanger sequencing unveiled a novel sequence variation involving nucleotide duplication within the range of 1794 to 1802, a non-V600E BRAF mutation not previously reported in follicular thyroid carcinoma.
This case study demonstrates the clinical relevance of exercising caution in molecular testing and its interpretation of results. For genetic testing used for diagnostic purposes, rigorous validation or cross-checking using different methods should always be considered to ensure appropriate interpretation of molecular results.
分子检测的应用越来越广泛；然而，诊断检测的准确性仍是首要考虑因素，尤其是针对检测与癌症相关特定突变的分子检测。
一位 45 岁的女性，无已知合并症，在常规健康检查中发现甲状腺结节。初步评估显示左叶甲状腺有一个 3.8 厘米的结节，在细针穿刺细胞学检查中归类为 Bethesda 系统类别 III。基因分子检测通过定量聚合酶链反应检测到 BRAF V600E 突变，这引发了对甲状腺乳头状癌（PTC）的担忧。
术前印象是 PTC，基于 BRAF V600E 突变的检测。
患者接受了甲状腺切除术和淋巴结清扫术，预计可治疗 PTC。
最终的病理结果出人意料地显示为微小浸润性滤泡癌。确认性 Sanger 测序揭示了一种新的序列变异，涉及核苷酸在 1794 至 1802 范围内的重复，这是一种以前未在滤泡性甲状腺癌中报道的非 V600E BRAF 突变。
本病例研究表明，在分子检测及其结果解释方面应谨慎行事，这具有临床相关性。对于用于诊断目的的遗传检测，应始终考虑使用不同方法进行严格验证或交叉检查，以确保对分子结果进行适当解释。
