Are molecular tests necessary to diagnose NIFTP?

Q2 Biochemistry, Genetics and Molecular Biology Genes and Cancer Pub Date : 2021-03-15 eCollection Date: 2021-01-01 DOI:10.18632/genesandcancer.213
Artur Kuchareczko, Janusz Kopczyński, Artur Kowalik, Kinga Hińcza, Agnieszka Płusa, Stanisław Góźdź, Aldona Kowalska
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引用次数: 3

Abstract

In 2016, encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC) was reclassified as noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP). In 2018 the criteria for NIFTP were widened by the inclusion of the complete lack of papillae. Secondary criteria, which include molecular examination, are helpful but not required for NIFTP diagnose. The aim of this study was to assess the molecular background of NIFTP and to answer the question if the aplication of revised criteria for NIFTP diagnosis is associated with the lack of oncogenic mutation. Repeat histopathological assessment of 1117 cases of papillary thyroid carcinoma (PTC) from 2000-2016 was conducted. Using initial (2016) and revised (2018) diagnostic criteria, NIFTP was diagnosed in 23 and 13 patients respectively. 50 tumor genes hotspots mutation analysis was conducted. BRAF V600E mutations were detected in patients who fulfilled only initial NIFTP criteria. Other high-risk mutations (TP53) were found in both groups of patients. The application of restrictive, revised diagnostic criteria for NIFTP negates the need for BRAF V600E examination, but these tumors still can harbor other high-risk oncogenic mutations nonetheless. Thus, molecular examination should be considered as a necessary step in NIFTP diagnostic process.

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诊断NIFTP需要分子检测吗?
2016年,甲状腺乳头状癌(EFVPTC)被重新归类为具有乳头状样核特征的非侵袭性甲状腺滤泡性肿瘤(NIFTP)。2018年,NIFTP的标准被扩大,包括完全缺乏乳头。次要标准,包括分子检查,对诊断NIFTP有帮助,但不是必需的。本研究的目的是评估NIFTP的分子背景,并回答修订的NIFTP诊断标准的应用是否与缺乏致癌突变有关的问题。对2000-2016年1117例甲状腺乳头状癌(PTC)进行重复组织病理学评估。使用初始(2016年)和修订(2018年)诊断标准,分别在23例和13例患者中诊断出NIFTP。对50个肿瘤基因进行热点突变分析。仅在满足初始NIFTP标准的患者中检测到BRAF V600E突变。在两组患者中均发现其他高危突变(TP53)。限制性修订的NIFTP诊断标准的应用否定了BRAF V600E检查的必要性,但这些肿瘤仍然可能存在其他高风险的致癌突变。因此,分子检查是诊断NIFTP的必要步骤。
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来源期刊
Genes and Cancer
Genes and Cancer Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.90
自引率
0.00%
发文量
6
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