与乳头状甲状腺癌相关的新型突变

Novel Mutation Associated With Papillary Thyroid Cancer.

作者信息

Gupta Deepashree, Laklouk Israa, Ngo Sang, Livhits Masha

机构信息

Division of Endocrinology, Department of Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.

Department of Pathology & Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, California.

出版信息

AACE Endocrinol Diabetes. 2025 May 8;12(2):112-116. doi: 10.1016/j.aed.2025.04.009. eCollection 2025 Jul-Aug.

DOI:10.1016/j.aed.2025.04.009

PMID:40786992

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12332489/

Abstract

BACKGROUND

The widespread adoption of molecular testing for cytologically indeterminate thyroid nodules has revealed mutations not previously described in thyroid cancer. The current study reports a novel case of papillary thyroid cancer with a FAT1 mutation.

CASE REPORT

A 47-year-old female presented with a palpable thyroid nodule. Ultrasound revealed a dominant left mid 1.3 cm TI-RADS 4 thyroid nodule. Fine needle aspiration revealed atypia of undetermined significance (Bethesda III); molecular testing with Afirma Genomic Sequencing Classifier was suspicious and identified a FAT1p.V912I c.2734G>A mutation. The patient underwent left thyroid lobectomy. Histopathology revealed papillary thyroid cancer in the index nodule, as well as 2 other foci of papillary thyroid cancer.

DISCUSSION

FAT1 mutation has been previously associated with head and neck squamous cell carcinoma but has not been reported in the context of papillary thyroid cancer.

CONCLUSION

FAT1 gene variation may be a novel mutation associated with papillary thyroid cancer.

摘要

背景

对细胞学检查结果不确定的甲状腺结节广泛采用分子检测，发现了甲状腺癌中以前未描述过的突变。本研究报告了一例具有FAT1突变的乳头状甲状腺癌新病例。

病例报告

一名47岁女性，甲状腺可触及结节。超声检查发现左侧中部有一个占优势的1.3厘米TI-RADS 4类甲状腺结节。细针穿刺显示意义不明确的非典型性（贝塞斯达III类）；使用Afirma基因测序分类器进行分子检测结果可疑，并鉴定出一个FAT1p.V912I c.2734G>A突变。患者接受了左侧甲状腺叶切除术。组织病理学显示，索引结节中存在乳头状甲状腺癌，以及另外2个乳头状甲状腺癌病灶。