甲状腺结节和进展期甲状腺癌中的EIF1AX突变：系统综述与荟萃分析。
完整摘要 · 中文译文
EIF1AX改变发生于良性、交界性、分化和高级别甲状腺肿瘤中，需要结合具体情境进行解读。检索了PubMed/MEDLINE、Scopus和Embase，截至2026年5月6日；补充的基因组学、引文和补充数据检索持续至2026年7月19日。分析涉及严格Bethesda III/IV结节中的患病率、EIF1AX阳性Bethesda III/IV结节中经组织学验证的结局，以及WHO或Turin定义的差分化甲状腺癌（PDTC）和组织学定义的未分化甲状腺癌（ATC）队列（未经分子学预筛）中的患病率。采用二项-正态广义线性混合模型合并比例；研究区间为精确Clopper-Pearson区间，异质性以logit尺度上的τ²表示。在43篇报告中，13篇纳入主要估计，17篇纳入主要或敏感性分析。三个严格Bethesda III/IV队列中EIF1AX患病率为4.75%（92/1935；95% CI，3.89%-5.80%；τ²=0.000）。经组织学验证的117个结节中50个为恶性组织学（40.77%；95% CI，24.59%-59.24%；τ²=0.413）。纳入伴乳头状核特征的非浸润性滤泡性甲状腺肿瘤（NIFTP）/交界性结局以及相容的Desai和Connelly数据后为64/124（48.16%；95% CI，30.69%-66.10%；τ²=0.497）。PDTC中患病率为6.15%（11/136；95% CI，2.04%-17.12%；τ²=0.455），ATC中为15.06%（25/162；95% CI，9.19%-23.70%；τ²=0.154）。EIF1AX在细胞学不确定结节中不常见，并非独立的确诊标志物。解读需要结合变异类别、共改变、检测方法 、验证和组织学背景。
完整摘要 · 英文原文
EIF1AX alterations occur across benign, borderline, differentiated, and high-grade thyroid neoplasia, requiring contextual interpretation. PubMed/MEDLINE, Scopus, and Embase were searched through 6 May 2026; complementary genomic, citation, and supplementary-data searches continued through 19 July 2026. Analyses addressed prevalence in strict Bethesda III/IV nodules, tissue-verified outcomes in EIF1AX-positive Bethesda III/IV nodules, and prevalence in WHO- or Turin-defined poorly differentiated thyroid carcinoma (PDTC) and histology-defined anaplastic thyroid carcinoma (ATC) cohorts not molecularly preselected. Proportions were pooled with binomial-normal generalized linear mixed models; study intervals were exact Clopper-Pearson intervals and heterogeneity was τ² on the logit scale. Among 43 reports, 13 contributed to a primary estimate and 17 to a primary or sensitivity analysis. EIF1AX prevalence in three strict Bethesda III/IV cohorts was 4.75% (92/1935; 95% CI, 3.89%-5.80%; τ²=0.000). Malignant histology occurred in 50/117 tissue-verified nodules (40.77%; 95% CI, 24.59%-59.24%; τ²=0.413). Including noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP)/borderline outcomes and compatible Desai and Connelly data yielded 64/124 (48.16%; 95% CI, 30.69%-66.10%; τ²=0.497). Prevalence was 6.15% in PDTC (11/136; 95% CI, 2.04%-17.12%; τ²=0.455) and 15.06% in ATC (25/162; 95% CI, 9.19%-23.70%; τ²=0.154). EIF1AX is uncommon in indeterminate cytology and is not a stand-alone rule-in marker. Interpretation requires variant class, co-alterations, assay, verification, and histologic context.