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非侵袭性滤泡性甲状腺肿瘤伴乳头状核特征(NIFTP):诊断更新和分子进展。

Noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP): Diagnostic updates and molecular advances.

机构信息

Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

出版信息

Semin Diagn Pathol. 2020 Sep;37(5):213-218. doi: 10.1053/j.semdp.2020.06.001. Epub 2020 Jun 10.

DOI:10.1053/j.semdp.2020.06.001
PMID:32646613
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8329747/
Abstract

The noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is a strictly defined thyroid lesion, reclassified in 2016, in order to more accurately reflect the biological behavior of the tumor and thus, modify the way the lesion is clinically approached and perceived both by practitioners and patients. Additionally, this newly specified designation also allows for more uniformity in reporting for general pathologists less comfortable to exclude overt malignancy with certain nuclear features. In recent years, increasing molecular analyses correlated with longitudinal clinical outcomes have fostered improved diagnostic and treatment paradigms. Important revisions made to the definition of NIFTP in 2018 include the prohibition of any true papillae formation and the exclusion of lesions harboring the BRAF V600E mutation and other high-risk genetic abnormalities. These changes reflect the imperfection of the current criteria in outcome prediction and the global efforts for improvement. NIFTP are lesions with a wide range of size and cytomorphology. Although not addressed in the original series, large (≥4 cm) and oncocytic NIFTP have recently been shown to incur no recurrence or metastatic risk. Molecularly, NIFTP have a similar mutational profile as other follicular thyroid neoplasms, with frequent RAS family mutations and PAX8-PPARɤ fusions. However, the transcriptomic landscape is highly heterogenous, adding difficulty to gene expression-based cytopathologic classification. This review summarizes the evolution of the NIFTP concept and important advances in recent literature.

摘要

不典型滤泡性甲状腺肿瘤伴乳头状核特征(NIFTP)是一种严格定义的甲状腺病变,于 2016 年重新分类,以便更准确地反映肿瘤的生物学行为,从而改变临床医生和患者对病变的处理方式和看法。此外,这种新指定的名称还允许不太确定是否存在明显恶性核特征的普通病理学家在报告中更加统一。近年来,与纵向临床结果相关的越来越多的分子分析促进了诊断和治疗模式的改进。2018 年对 NIFTP 定义的重要修订包括禁止任何真正的乳头形成,以及排除携带 BRAF V600E 突变和其他高危遗传异常的病变。这些变化反映了当前标准在预测结果方面的不完善以及全球改善的努力。NIFTP 是具有广泛大小和细胞形态学的病变。尽管在原始系列中未涉及,但最近已经表明,大(≥4cm)和嗜酸细胞性 NIFTP 不会发生复发或转移风险。从分子角度来看,NIFTP 与其他滤泡性甲状腺肿瘤具有相似的突变谱,经常发生 RAS 家族突变和 PAX8-PPARɤ 融合。然而,转录组景观高度异质,增加了基于基因表达的细胞学分类的难度。这篇综述总结了 NIFTP 概念的演变以及最近文献中的重要进展。

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本文引用的文献

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Preoperative prediction of non-invasive follicular thyroid neoplasm with papillary-like nuclear features: a Canadian single-Centre experience.术前预测具有甲状腺滤泡状肿瘤样核特征的非侵袭性滤泡性甲状腺肿瘤:加拿大单中心经验。
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Clinical-pathological issues in thyroid pathology: study on the routine application of NIFTP diagnostic criteria.甲状腺病理学中的临床病理问题:对 NIFTP 诊断标准常规应用的研究。
Sci Rep. 2019 Sep 12;9(1):13179. doi: 10.1038/s41598-019-49851-1.
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Mutation profiles of follicular thyroid tumors by targeted sequencing.
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RAS-Mutant Follicular Thyroid Tumors: A Continuous Challenge for Pathologists.RAS 突变型滤泡状甲状腺肿瘤:病理医师面临的持续挑战。
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Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas.一系列分化型甲状腺癌的细胞组织学基因对比图谱
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Spatially Resolved Molecular Approaches for the Characterisation of Non-Invasive Follicular Tumours with Papillary-like Features (NIFTPs).空间分辨分子方法在具有乳头状特征的非浸润滤泡性肿瘤(NIFTPs)的特征描述中的应用。
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somatic mutations strongly impair miRNA processing even in benign thyroid lesions.体细胞突变即使在良性甲状腺病变中也会严重损害微小RNA(miRNA)的加工过程。
Oncotarget. 2019 Mar 5;10(19):1785-1797. doi: 10.18632/oncotarget.26639.
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Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features (NIFTP): Update and Diagnostic Considerations-a Review.具有甲状腺滤泡状肿瘤样核特征的非侵袭性滤泡性甲状腺肿瘤(NIFTP):更新和诊断注意事项——综述。
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