Department of Clinical Pathology, Faculty of Medicine, Ain Shams University, Cairo, Egypt; Department of Pathology and Laboratory Medicine, Mayo Clinic, Jacksonville, Florida.
Department of Pathology and Laboratory Medicine, Mayo Clinic, Jacksonville, Florida; Edward Via College of Osteopathic Medicine, Spartanburg, South Carolina.
J Am Soc Cytopathol. 2021 Mar-Apr;10(2):155-163. doi: 10.1016/j.jasc.2020.09.005. Epub 2020 Sep 18.
Indeterminate thyroid cytology (ITC) occurs in 20% to 25% of cases, and the associated risk of malignancy ranges from 5% to 30%. The genomic classifier ThyroSeq (CBLPath/UPMC, Rye Brook, NY), a targeted next-generation sequencing technology, could classify ITC nodules as malignant and nonmalignant. We sought to characterize our institutional experience with ThyroSeq testing.
We retrospectively identified all patients seen from January 2015 through November 2019 who had ITC nodules analyzed with ThyroSeq. Relevant clinical, pathologic, and resection data were reviewed.
Of the 133 cases identified, diagnostic categories included atypia (or follicular lesion) of undetermined significance) (n = 65 [48.9%]), suspicious for follicular neoplasm (SFN) (n = 48 [36.1%]), and suspicious for Hürthle cell neoplasm (n = 20 [15.0%]). About half of the papillary thyroid carcinoma (PTC) cases (n = 9 [56.3%]) and more than one-third of the noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) cases (n = 3/8 [37.5%]) were classified as SFN. Most patients (n = 87 [65.4%]) did not undergo resection; of these, 73 (83.9%) were negative for all molecular alterations. Of the 54 cases with molecular alterations, isolated RAS or RAS-like variants were most common (n = 35 [64.8%]); 9 (25.7%) were identified in PTC and 8 (22.9%) in NIFTP. NRAS was the most common alteration (n = 20 [37.0%]), followed by HRAS (n = 6 [11.1%]), which was mostly detected in NIFTP cases (n = 4 of 6 [66.7%]).
Resection was avoided in 73 patients (54.9%) because of negative ThyroSeq results. ThyroSeq v2 and v3 offered a more accurate categorization of ITC nodules, improved patient management, and reduced unnecessary surgical procedures.
甲状腺细胞不典型性（ITC）在 20%至 25%的病例中发生，恶性肿瘤的相关风险为 5%至 30%。基因组分类器 ThyroSeq（CBLPath/UPMC，Rye Brook，NY）是一种靶向下一代测序技术，可以将 ITC 结节分类为恶性和非恶性。我们试图描述我们机构使用 ThyroSeq 检测的经验。
我们回顾性地确定了 2015 年 1 月至 2019 年 11 月间所有经 ThyroSeq 分析的 ITC 结节患者。回顾了相关的临床、病理和切除数据。
在确定的 133 例患者中，诊断类别包括不典型（或滤泡性病变）意义不明（n = 65 [48.9%]）、疑似滤泡性肿瘤（SFN）（n = 48 [36.1%]）和疑似 Hurthle 细胞肿瘤（n = 20 [15.0%]）。大约一半的甲状腺乳头状癌（PTC）病例（n = 9 [56.3%]）和三分之一以上的具有乳头状核特征的非浸润性滤泡性甲状腺肿瘤（NIFTP）病例（n = 3/8 [37.5%]）被归类为 SFN。大多数患者（n = 87 [65.4%]）未进行切除；其中 73 例（83.9%）所有分子改变均为阴性。在 54 例有分子改变的病例中，孤立的 RAS 或 RAS 样变体最为常见（n = 35 [64.8%]）；9 例（25.7%）在 PTC 中发现，8 例（22.9%）在 NIFTP 中发现。NRAS 是最常见的改变（n = 20 [37.0%]），其次是 HRAS（n = 6 [11.1%]），主要在 NIFTP 病例中发现（n = 6 中的 4 例[66.7%]）。
由于 ThyroSeq 结果为阴性，73 例患者（54.9%）避免了切除。ThyroSeq v2 和 v3 对 ITC 结节进行了更准确的分类，改善了患者管理，减少了不必要的手术。
