Jones MacKenzie, Abendano Dorbin G, Turner Matthew, Sullivan Christopher, Reyes Maria Cecilia D
Medical University of South Carolina College of Medicine, Charleston, South Carolina, USA.
Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina, USA.
Diagn Cytopathol. 2023 Dec;51(12):E332-E337. doi: 10.1002/dc.25214. Epub 2023 Aug 16.
Molecular testing is an adjunct test for thyroid fine needle aspirations with indeterminate diagnoses, with certain mutations showing a greater risk of malignancy (ROM). Rat sarcoma (RAS) point mutations are the most common alterations in indeterminate thyroid nodules. While they can have a high ROM, they are also found in benign disease. This study describes the histologic outcomes of indeterminate nodules with RAS mutations. Bethesda III and IV thyroid nodules with ThyroSeq results showing RAS mutations (NRAS, KRAS, and HRAS) were identified between November 1, 2018 and February 28, 2023. Baseline patient characteristics, ThyroSeq results, and surgical diagnoses were collected. We identified 18 nodules with RAS mutations from 17 patients. Fourteen were NRAS (isolated NRAS in 6; NRAS with other abnormalities [NRAS+] in 8); one was isolated KRAS; and three were HRAS with other abnormalities (HRAS+). NRAS Q16R was the most common amino acid change. Twelve cases had follow-up. Two were malignant, a minimally invasive follicular carcinoma (NRAS+) and a papillary thyroid carcinoma, follicular variant (HRAS+). Three were noninvasive follicular thyroid neoplasms with papillary-like nuclear features (NIFTP), 2 HRAS+ and 1 NRAS+. Four were follicular adenomas, one being atypical (3 NRAS+ and one isolated NRAS). One was an oncocytic adenoma (isolated NRAS). Two were nodular hyperplasias (isolated NRAS and NRAS+, respectively). Twenty-eight percent of our RAS-mutated nodules were malignant or NIFTP. All three HRAS-mutated nodules were malignant or NIFTP. The three isolated RAS mutations with follow up were benign (adenomas or nodular hyperplasia). These findings were in line with the literature.
分子检测是甲状腺细针穿刺活检结果为不确定诊断时的辅助检测手段，某些突变显示出更高的恶性风险（ROM）。大鼠肉瘤（RAS）点突变是甲状腺不确定结节中最常见的改变。虽然它们的ROM可能很高，但也见于良性疾病。本研究描述了具有RAS突变的不确定结节的组织学结果。确定了2018年11月1日至2023年2月28日期间甲状腺细针穿刺活检结果为Bethesda III和IV级且ThyroSeq结果显示存在RAS突变（NRAS、KRAS和HRAS）的结节。收集了患者的基线特征、ThyroSeq结果和手术诊断。我们从17例患者中确定了18个具有RAS突变的结节。其中14个为NRAS突变（6个为孤立NRAS突变；8个为NRAS突变合并其他异常[NRAS+]）；1个为孤立KRAS突变；3个为HRAS突变合并其他异常（HRAS+）。NRAS Q16R是最常见的氨基酸变化。12例患者进行了随访。2例为恶性，1例为微小浸润性滤泡癌（NRAS+），1例为滤泡状甲状腺乳头状癌（HRAS+）。3例为具有乳头状核特征的非侵袭性滤泡性甲状腺肿瘤（NIFTP），2例为HRAS+，1例为NRAS+。4例为滤泡性腺瘤，1例为非典型腺瘤（3例NRAS+和1例孤立NRAS突变）。1例为嗜酸性细胞腺瘤（孤立NRAS突变）。2例为结节性增生（分别为孤立NRAS突变和NRAS+）。我们的RAS突变结节中有28%为恶性或NIFTP。所有3个HRAS突变结节均为恶性或NIFTP。3个接受随访的孤立RAS突变结节均为良性（腺瘤或结节性增生）。这些发现与文献一致。
