Sgariglia Roberta, Nacchio Mariantonia, Migliatico Ilaria, Vigliar Elena, Malapelle Umberto, Pisapia Pasquale, De Luca Caterina, Iaccarino Antonino, Salvatore Domenico, Masone Stefania, Troncone Giancarlo, Bellevicine Claudio
Public Health, University of Naples Federico II, Naples, Italy.
Clinical Medicine and Surgery, General Surgery Unit, University of Naples Federico II, Naples, Italy.
J Clin Pathol. 2022 Jul;75(7):465-471. doi: 10.1136/jclinpath-2021-207429. Epub 2021 Mar 31.
In thyroid cytopathology, the undetermined diagnostic categories still pose diagnostic challenges. Although next-generation sequencing (NGS) is a promising technique for the molecular testing of thyroid fine-needle aspiration (FNA) specimens, access to such technology can be difficult because of its prohibitive cost and lack of reimbursement in countries with universal health coverage. To overcome these issues, we developed and validated a novel custom NGS panel, specifically designed to target 264 clinically relevant mutations involved in thyroid tumourigenesis. Moreover, in this study, we compared its analytical performance with that of our previous molecular testing strategy.
The panel, which includes 15 genes ( was validated with a cell-line derived reference standard and 72 FNA archival samples previously tested with the 7-gene test.
yielded 100% specificity and detected mutant alleles at levels as low as 2%. Moreover, in 5/72 (7%) FNAs, it detected more clinically relevant mutations in and genes compared with the 7-gene test. also revealed better postsequencing metrics than the previously adopted commercial 'generic' NGS panel.
Our comparative analysis indicates that is a reliable NGS panel. The study also implies that a custom-based solution for routine thyroid FNA is sustainable at the local level, allowing patients with undetermined thyroid nodules affordable access to NGS.
在甲状腺细胞病理学中，不确定的诊断类别仍然带来诊断挑战。尽管下一代测序（NGS）是用于甲状腺细针穿刺（FNA）标本分子检测的一项有前景的技术，但由于其成本高昂且在实行全民医保的国家缺乏报销，获取该技术可能存在困难。为克服这些问题，我们开发并验证了一种新型定制NGS检测板，专门针对264个与甲状腺肿瘤发生相关的临床相关突变。此外，在本研究中，我们将其分析性能与我们之前的分子检测策略进行了比较。
该检测板包含15个基因，用细胞系衍生的参考标准以及72份先前用7基因检测法检测过的FNA存档样本进行验证。
特异性达到100%，能检测低至2%水平的突变等位基因。此外，在5/72（7%）的FNA样本中，与7基因检测法相比，它在[具体基因1]和[具体基因2]中检测到更多临床相关突变。[检测板名称]还显示出比先前采用的商业“通用”NGS检测板更好的测序后指标。
我们的比较分析表明[检测板名称]是一种可靠的NGS检测板。该研究还表明，针对常规甲状腺FNA的定制解决方案在地方层面是可持续的，能让甲状腺结节不确定的患者以可承受的价格获得NGS检测。
