Abstract：
BACKGROUND: The increased usage and adaptation of molecular testing of thyroid fine needle aspirations (FNA) has expanded the variety and number of gene fusions identified. While the identified number of molecular alterations is increasing, the definitive association between preoperative molecular analysis and phenotype has yet to be established. The aim of this study was to examine Thyroid adenoma-associated (THADA)-IGF2BP3 molecular fusions with FNA categorization, surgical pathology diagnosis, and other molecular alterations detected by ThyroSeq Genomic Classifier testing.
METHODS: FNA cytology samples of thyroid nodules from 04/2017 to 01/2023 with the diagnosis of atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS; Bethesda III) or follicular neoplasm suspicious for follicular neoplasm (FN/SFN; Bethesda IV) with associated ThyroSeqV3 testing were reviewed. Parameters including patient demographics, FNA diagnosis, ThyroSeq V3 results, and surgical pathology follow up were examined.
RESULTS: 87 out of 249 (35%) FNA specimens of thyroid nodules displayed molecular alterations. 64 cases (74%) had a cytology diagnosis of AUS and 23 (26%) had FN. RAS mutation was observed in 48 cases. On surgical follow-up, 17 (35%) cases showed non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), while 14 (29%) patients had a malignant diagnosis. THADA-IGF2BP3 fusions were seen in 8 cases, all with NIFTP on surgical pathology follow-up (100%).
CONCLUSIONS: Analysis of THADA-IGF2BP3 fusion, in our institutional series, shows close association with NIFTP cases. THADA-IGF2BP3 fusion, which seems to be a favorable prognostic indicator in general, may serve as a molecular marker for non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).
METHODS: FNA cytology samples of thyroid nodules from 04/2017 to 01/2023 with the diagnosis of atypia of undetermined significance or follicular lesion of undetermined significance (AUS/FLUS; Bethesda III) or follicular neoplasm suspicious for follicular neoplasm (FN/SFN; Bethesda IV) with associated ThyroSeqV3 testing were reviewed. Parameters including patient demographics, FNA diagnosis, ThyroSeq V3 results, and surgical pathology follow up were examined.
RESULTS: 87 out of 249 (35%) FNA specimens of thyroid nodules displayed molecular alterations. 64 cases (74%) had a cytology diagnosis of AUS and 23 (26%) had FN. RAS mutation was observed in 48 cases. On surgical follow-up, 17 (35%) cases showed non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), while 14 (29%) patients had a malignant diagnosis. THADA-IGF2BP3 fusions were seen in 8 cases, all with NIFTP on surgical pathology follow-up (100%).
CONCLUSIONS: Analysis of THADA-IGF2BP3 fusion, in our institutional series, shows close association with NIFTP cases. THADA-IGF2BP3 fusion, which seems to be a favorable prognostic indicator in general, may serve as a molecular marker for non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP).
摘要：
背景：甲状腺细针穿刺（FNA）分子检测的使用和适应性增加扩大了鉴定的基因融合的种类和数量。虽然已确定的分子改变数量正在增加，术前分子分析和表型之间的明确关联尚未确定.这项研究的目的是检查甲状腺腺瘤相关（THADA）-IGF2BP3分子融合与FNA分类，外科病理诊断,以及通过ThyroSeq基因组分类器测试检测到的其他分子改变。
方法：2017年4月至2023年1月的甲状腺结节FNA细胞学样本，诊断为意义不明的非典型性或意义不明的滤泡性病变（AUS/FLUS；BethesdaIII）或可疑的滤泡性肿瘤（FN/SFN；BethesdaIV），并进行相关的甲状腺SeyroSeqV3检测。包括患者人口统计在内的参数，FNA诊断,ThyroSeqV3结果，并进行手术病理随访。
结果：249例（35%）甲状腺结节FNA标本中有87例显示分子改变。64例（74％）有AUS的细胞学诊断，23例（26％）有FN。48例患者出现RAS突变。在手术随访中，17例（35％）显示具有乳头状样细胞核特征（NIFTP）的非侵入性滤泡性甲状腺肿瘤，而14例（29％）患者诊断为恶性。THADA-IGF2BP3融合8例,所有NIFTP均在手术病理随访(100%)。
结论：THADA-IGF2BP3融合分析，在我们的机构系列中，显示与NIFTP病例密切相关。THADA-IGF2BP3融合,这似乎是一个有利的预后指标，可以作为具有乳头状样细胞核特征（NIFTP）的非侵袭性滤泡性甲状腺肿瘤的分子标志物。
方法：2017年4月至2023年1月的甲状腺结节FNA细胞学样本，诊断为意义不明的非典型性或意义不明的滤泡性病变（AUS/FLUS；BethesdaIII）或可疑的滤泡性肿瘤（FN/SFN；BethesdaIV），并进行相关的甲状腺SeyroSeqV3检测。包括患者人口统计在内的参数，FNA诊断,ThyroSeqV3结果，并进行手术病理随访。
结果：249例（35%）甲状腺结节FNA标本中有87例显示分子改变。64例（74％）有AUS的细胞学诊断，23例（26％）有FN。48例患者出现RAS突变。在手术随访中，17例（35％）显示具有乳头状样细胞核特征（NIFTP）的非侵入性滤泡性甲状腺肿瘤，而14例（29％）患者诊断为恶性。THADA-IGF2BP3融合8例,所有NIFTP均在手术病理随访(100%)。
结论：THADA-IGF2BP3融合分析，在我们的机构系列中，显示与NIFTP病例密切相关。THADA-IGF2BP3融合,这似乎是一个有利的预后指标，可以作为具有乳头状样细胞核特征（NIFTP）的非侵袭性滤泡性甲状腺肿瘤的分子标志物。
