Paschke Ralf, Cantara Silvia, Crescenzi Anna, Jarzab Barbara, Musholt Thomas J, Sobrinho Simoes Manuel
Division of Endocrinology and Metabolism, Departments of Medicine, Pathology, Oncology and Arnie Charbonneau Cancer Institute, Calgary, AB, Canada.
Department of Medical, Surgical, and Neurological Sciences, Endocrinology Section, University of Siena, Siena, Italy.
Eur Thyroid J. 2017 Jul;6(3):115-129. doi: 10.1159/000468519. Epub 2017 May 19.
Molecular fine-needle aspiration (FNA) cytology diagnostics has the potential to address the inherent limitation of FNA cytology which is an indeterminate (atypia of undetermined significance/follicular lesion of undetermined significance follicular neoplasm) cytology. Because of the emerging role of molecular FNA cytology diagnostics, the European Thyroid Association convened a panel of international experts to review methodological aspects, indications, results, and limitations of molecular FNA cytology diagnostics. The panel reviewed the evidence for the diagnostic value of mutation panel assessment (including at least , , , , , ) of targeted next generation sequencing and of a microarray gene expression classifier (GEC) test in the diagnostic assessment of an indeterminate cytology thyroid nodule. Moreover, possible surgical consequences of molecular FNA diagnostic results of thyroid nodules and the evidence that analysis of a molecular FNA diagnostic panel of somatic mutations or a microarray GEC test can alter the follow-up were reviewed. Molecular tests may help clinicians to drive patient care and the surgical decision if the analysis is performed in specialized laboratories. These molecular tests require standardization of performance characteristics and appropriate calibration as well as analytic validation before clinical interpretation.
分子细针穿刺(FNA)细胞学诊断有可能解决FNA细胞学的固有局限性,即其为不确定的(意义不明确的非典型性/意义不明确的滤泡性病变/滤泡性肿瘤)细胞学。由于分子FNA细胞学诊断的作用日益凸显,欧洲甲状腺协会召集了一组国际专家,对分子FNA细胞学诊断的方法学方面、适应证、结果及局限性进行审查。该小组审查了靶向二代测序的突变组评估(至少包括 、 、 、 、 、 )及微阵列基因表达分类器(GEC)检测在不确定细胞学甲状腺结节诊断评估中的诊断价值证据。此外,还审查了甲状腺结节分子FNA诊断结果可能的手术后果,以及体细胞突变分子FNA诊断组或微阵列GEC检测分析可改变随访的证据。如果在专业实验室进行分析,分子检测可能有助于临床医生推动患者护理及手术决策。这些分子检测在进行临床解读之前,需要性能特征标准化、适当校准以及分析验证。