非侵袭性滤泡性甲状腺肿瘤伴乳头状核特征（NIFTP）是否具有独特的分子特征？

Does Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Have a Unique Molecular Profile?

机构信息

Department of Pathology, New York University Langone Medical Center, New York.

出版信息

Am J Clin Pathol. 2018 Oct 1;150(5):451-460. doi: 10.1093/ajcp/aqy075.

DOI:10.1093/ajcp/aqy075

PMID:30052723

Abstract

OBJECTIVES

Recognizing preoperative characteristics of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) is important for clinical management. Therefore, we assessed presurgical NIFTP molecular profiles using fine-needle aspiration (FNA) material.

METHODS

Presurgical FNA reports of 39 surgically confirmed NIFTP cases from January 2013 through May 2017 were assessed for Afirma and ThyroSeq results.

RESULTS

Twenty-one of 39 NIFTP nodules were preoperatively tested with Afirma with two benign and 19 suspicious results. Twenty-seven of 39 nodules were tested with ThyroSeq (nine of 39 had both Afirma and Thyroseq): 18 (67%) had RAS mutations (13 NRAS, four HRAS, one KRAS), and three of 18 had multiple alterations (NRAS + TP53, n = 1; NRAS + PTEN, n = 2). BRAF T599_R603 + EIF1AX mutation (n = 1), PTEN mutation (n = 1), MET overexpression (n = 1), PAX8/PPARG fusion (n = 3), and THADA/IGF2BP3 fusion (n = 3) comprised the remainder.

CONCLUSIONS

NIFTP cases most commonly displayed suspicious Afirma results and RAS mutations on ThyroSeq, lacking aggressive/BRAF-V600E-like mutations. While NIFTP remains a surgical entity, the lack of aggressive/BRAF-V600E-like mutations can aid in determining the extent of surgery.

摘要

目的

识别具有甲状腺滤泡状肿瘤伴乳头状核特征（NIFTP）的术前特征对于临床管理很重要。因此，我们使用细针抽吸（FNA）材料评估术前 NIFTP 分子谱。

方法

评估了 2013 年 1 月至 2017 年 5 月期间 39 例经手术证实的 NIFTP 病例的术前 FNA 报告，以评估 Afirma 和 ThyroSeq 结果。

结果

39 个 NIFTP 结节中有 21 个结节在术前进行了 Afirma 检测，其中 2 个为良性，19 个为可疑。39 个结节中有 27 个进行了 ThyroSeq 检测（39 个中有 9 个同时进行了 Afirma 和 ThyroSeq）：18 个（67%）有 RAS 突变（13 个 NRAS，4 个 HRAS，1 个 KRAS），18 个中有 3 个有多个改变（NRAS + TP53，n = 1；NRAS + PTEN，n = 2）。BRAF T599_R603 + EIF1AX 突变（n = 1），PTEN 突变（n = 1），MET 过表达（n = 1），PAX8/PPARG 融合（n = 3）和 THADA/IGF2BP3 融合（n = 3）构成了其余部分。