Maerki Jennifer, Klein Melissa, Chau Karen, Gimenez Cecilia, Fishbein Joanna, Khutti Seema, Das Kasturi
Northwell Health Laboratories, Division of Cytopathology, Department of Pathology and Laboratory Medicine, New York, New York.
Department of Pathology and Laboratory Medicine, Hofstra Northwell Health School of Medicine, New York, New York.
Diagn Cytopathol. 2019 Apr;47(4):259-267. doi: 10.1002/dc.24091. Epub 2018 Nov 29.
Currently, molecular studies are widely used as a guiding tool in further management of cytologically indeterminate thyroid nodules. At our institution, clinicians have recently expressed concern over receiving "less positive molecular results" upon switching from an extended 14 gene mutation panel (EGMP) to a 7 gene mutation panel (GMP). Our goal is to compare outcomes of these two tests in regards to the performance characteristics and clinical impact.
All thyroid fine-needle aspiration (FNA) biopsy specimens sent for molecular studies from 2016 to 2017 were retrospectively studied. Cytopathology diagnosis, pertinent clinical findings, molecular results, and follow-up (F/U) surgical and cytology diagnoses were recorded.
Of the total 165 cases sent for molecular tests 86 (52%) were GMP and 79 (47%) EGMP. There were 21 (24%) and 40 (50%) cases with positive GMP and EGMP results, respectively. Within these positive cases (n = 61), there were a total of 33 (54%) patients who underwent surgical resection and 28 (45%) patients had no follow-up. The molecular findings and surgical pathologic diagnoses obtained are illustrated in Figures 1 through 4 for GMP and EGMP, respectively.
The selection of molecular testing should be directed toward optimizing patient care and facilitate clinical management. This quality assurance study helped in understanding the complexities associated with test selection best suited for our institution and in educating clinicians.
目前，分子研究作为一种指导工具，在细胞学检查结果不确定的甲状腺结节的进一步处理中得到广泛应用。在我们机构，临床医生最近对从扩展的14基因突变检测板（EGMP）转换为7基因突变检测板（GMP）后获得“阳性程度较低的分子检测结果”表示担忧。我们的目标是比较这两种检测在性能特征和临床影响方面的结果。
对2016年至2017年送检进行分子研究的所有甲状腺细针穿刺（FNA）活检标本进行回顾性研究。记录细胞病理学诊断、相关临床发现、分子检测结果以及随访（F/U）手术和细胞学诊断。
在总共165例送检分子检测的病例中，86例（52%）采用GMP检测，79例（47%）采用EGMP检测。GMP和EGMP检测结果阳性的病例分别有21例（24%）和40例（50%）。在这些阳性病例（n = 61）中，共有33例（54%）患者接受了手术切除，28例（45%）患者未进行随访。分别在图1至图4中展示了GMP和EGMP检测获得的分子检测结果和手术病理诊断。
分子检测的选择应旨在优化患者护理并促进临床管理。这项质量保证研究有助于了解与最适合我们机构的检测选择相关的复杂性，并对临床医生进行教育。
