Partyka Kristen L, Trevino Karen, Randolph Melissa L, Cramer Harvey, Wu Howard H
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana.
Diagn Cytopathol. 2019 Sep;47(9):853-862. doi: 10.1002/dc.24250. Epub 2019 Jun 27.
The management of thyroid nodules with indeterminate cytology is challenging. Recently, molecular testing on fine-needle aspirates (FNAs) has been advocated to determine whether clinical follow-up or surgery is warranted for patients. Three different testing platforms were performed on aspirates from our institution (Afirma Thyroid FNA Analysis, RosettaGX Reveal, and Interpace ThyGenX/ThyraMIR). This study compares their diagnostic efficacy.
We conducted a retrospective analysis of indeterminate thyroid FNAs with correlating molecular testing over 4 years (2015-2018). The aspirates included diagnoses of follicular lesion of undetermined significance, follicular neoplasm, or suspicious for malignancy (SM). Based on cases that underwent surgical resection (Afirma, n = 37; Rosetta, n = 19; Interpace, n = 14), we calculated sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for risk of malignancy and neoplasia.
The three tests performed similarly when predicting risk of malignancy. They showed high sensitivity (80-100%) and NPV (90-100%) but lower specificity (10-64%) and PPV (21-44%). When assessing their value to predict neoplasia, each test had a high PPV (76-89%) but low NPV (20-33%). The sensitivity for neoplasm was intermediate to high (50-93%), and the specificity remained extremely variable (11-67%).
Overall, these molecular platforms performed similarly, displaying high NPV but low to intermediate PPV for malignancy and low NPV but high PPV for neoplasm. The risk of neoplasm is a good index for surgery, and we argue that many of the neoplasms are low-risk tumors. We endorse conservative treatment with lobectomy for cases that are indeterminate at FNA but suspicious by molecular testing.
对甲状腺结节进行不确定细胞学诊断的管理具有挑战性。最近，有人主张对细针穿刺抽吸物（FNA）进行分子检测，以确定患者是需要临床随访还是进行手术。我们机构对抽吸物进行了三种不同的检测平台（Afirma甲状腺FNA分析、RosettaGX Reveal和Interpace ThyGenX/ThyraMIR）检测。本研究比较了它们的诊断效能。
我们对4年（2015 - 2018年）间进行不确定甲状腺FNA并进行相关分子检测的病例进行了回顾性分析。抽吸物诊断包括意义未明的滤泡性病变、滤泡性肿瘤或可疑恶性（SM）。基于接受手术切除的病例（Afirma，n = 37；Rosetta，n = 19；Interpace，n = 14），我们计算了恶性肿瘤和肿瘤形成风险的敏感性、特异性、阳性预测值（PPV）和阴性预测值（NPV）。
在预测恶性肿瘤风险时，这三种检测表现相似。它们显示出高敏感性（80 - 100%）和NPV（90 - 100%），但特异性较低（10 - 64%）和PPV（21 - 44%）。在评估它们预测肿瘤形成的价值时，每种检测的PPV都很高（76 - 89%），但NPV很低（20 - 33%）。肿瘤形成的敏感性为中等至高（50 - 93%），特异性仍然变化极大（11 - 67%）。
总体而言，这些分子平台表现相似，对恶性肿瘤显示出高NPV但低至中等PPV，对肿瘤形成显示出低NPV但高PPV。肿瘤形成风险是手术的一个良好指标，我们认为许多肿瘤是低风险肿瘤。对于FNA不确定但分子检测可疑的病例，我们支持采用叶切除术进行保守治疗。
