Department of Pathology, Duke University Hospital, Durham, North Carolina.
Cancer Cytopathol. 2016 Dec;124(12):893-900. doi: 10.1002/cncy.21802. Epub 2016 Nov 28.
Molecular testing provides an important ancillary study for thyroid nodules with indeterminate cytology. The nomenclature shift to "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP) will impact the performance of molecular tests. For the current study, the authors reviewed the performance of the Afirma gene-expression classifier (GEC) and the University of Pittsburgh Medical Center (UPMC) targeted mutation panel tests in thyroid nodules that were subsequently diagnosed as NIFTP on surgical resection.
In total, 302 nodules were sent for molecular testing between June 2012 and June 2016. These cases were retrospectively reviewed to identify patients who underwent subsequent surgical resection and were diagnosed with follicular variant of papillary thyroid carcinoma (FVPTC). Twenty-five nodules that were diagnosed as FVPTC met the initial inclusion criteria. These cases were reviewed using strict criteria to identify NIFTP.
Eight cases met criteria for NIFTP, and 4 NIFTPs underwent Afirma testing. Cytology diagnoses were all Bethesda category III, with 3 diagnosed as atypia of undetermined significance (AUS) and 1 diagnosed as follicular lesion of undetermined significance (FLUS). All of these nodules were identified as "suspicious" using GEC. Four NIFTPs underwent testing at UPMC, all using ThyroSeq V2. The cytology diagnoses for these nodules also were category III, with the exception of 1 nodule that was category IV, suspicious for follicular neoplasm. All NIFTPs were positive for mutations, all of which were RAS mutations (NRAS, KRAS). One patient who had a nodule classified as NIFTP had metastatic carcinoma identified in a lymph node. Another who had a 6-cm tumor had coexisting NRAS and TERT mutations.
The current results indicate that NIFTP is a rare tumor if defined by strict criteria, that both the GEC and UPMC methods indicate abnormalities in NIFTP, and further independent study will be needed to better characterize the molecular and clinical characteristics of NIFTP. Cancer Cytopathol 2016;124:893-900. © 2016 American Cancer Society.
分子检测为细胞学不确定的甲状腺结节提供了重要的辅助研究。向“具有滤泡状乳头状核特征的非浸润性滤泡性甲状腺肿瘤”（NIFTP）的命名学转变将影响分子检测的性能。在本研究中，作者回顾了 Afirma 基因表达分类器（GEC）和匹兹堡大学医学中心（UPMC）靶向突变面板检测在甲状腺结节中的性能，这些结节随后在手术切除时被诊断为 NIFTP。
总共 302 个结节于 2012 年 6 月至 2016 年 6 月送检进行分子检测。这些病例进行了回顾性审查，以确定随后接受手术切除并被诊断为滤泡状变异型乳头状甲状腺癌（FVPTC）的患者。25 个被诊断为 FVPTC 的结节符合最初的纳入标准。这些病例使用严格的标准进行审查，以确定 NIFTP。
8 例符合 NIFTP 标准，4 例 NIFTP 进行了 Afirma 检测。细胞学诊断均为 Bethesda 分类 III 级，其中 3 例诊断为意义不明确的非典型性（AUS），1 例诊断为滤泡性病变意义不明确（FLUS）。所有这些结节使用 GEC 均被识别为“可疑”。4 例 NIFTP 在 UPMC 进行了检测，均使用 ThyroSeq V2。这些结节的细胞学诊断也为 III 级，除了 1 个结节为 IV 级，提示滤泡性肿瘤。所有 NIFTP 均为 RAS 突变（NRAS、KRAS）阳性。1 例结节被分类为 NIFTP 的患者在淋巴结中发现转移性癌。另 1 例 6 厘米大的肿瘤同时存在 NRAS 和 TERT 突变。
如果按照严格的标准定义，目前的结果表明 NIFTP 是一种罕见的肿瘤，GEC 和 UPMC 方法均表明 NIFTP 存在异常，需要进一步的独立研究来更好地描述 NIFTP 的分子和临床特征。癌症细胞病理学 2016；124:893-900。© 2016 美国癌症协会。
