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重新思考分子检测阳性的甲状腺结节的恶性风险:南加州永久医疗集团的经验。

Rethinking Malignancy Risk in Indeterminate Thyroid Nodules with Positive Molecular Studies: Southern California Permanente Experience.

机构信息

1 Department of Head and Neck Surgery, Southern California Permanente Medical Group, Harbor City, California, USA.

2 Department of Cytopathology, Southern California Permanente Medical Group, North Hollywood, California, USA.

出版信息

Otolaryngol Head Neck Surg. 2019 Sep;161(3):419-423. doi: 10.1177/0194599819842859. Epub 2019 Apr 23.

DOI:10.1177/0194599819842859
PMID:31013183
Abstract

OBJECTIVES

To recognize that thyroid nodules with atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS; Bethesda III) have different risks of malignancy based on genetic mutation and to consider molecular testing of nodules with AUS/FLUS to help avoid unnecessary morbidity or cost.

STUDY DESIGN

Retrospective cohort study.

SETTING

Multiple locations within Southern California Permanente Medical Group.

SUBJECTS AND METHODS

Patients included those with indeterminate thyroid nodules and AUS/FLUS on 2 separate fine-needle aspirations with positive ThyGenX testing from 2014 to 2017 who underwent thyroid surgery. Patients were classified as having benign or malignant disease. Noninvasive follicular thyroid neoplasm with papillary-like nuclear features was considered benign.

RESULTS

A total of 231 patients had repeat AUS/FLUS with positive molecular testing and surgery. The most frequent type of malignancy was papillary carcinoma, followed by follicular carcinoma. The overall prevalence of malignancy in nodules with mutations was 74.0%, although there was considerable variation: = 100%, = 100%, = 84.6%, = 70.7%, = 63.4%, and = 33%-a statistically significant finding ( < .001).

CONCLUSIONS

Not all molecular mutations in thyroid nodules with AUS/FLUS have a high risk of malignancy. Of note, patients with and mutations in our population had a 100% risk of malignancy. Patients with , or mutations had a high risk of malignancy, while patients with mutations had a lower risk of malignancy. Further studies are needed to determine if the presence of certain molecular mutations can help personalize care and aid in the decision for thyroid surgery.

摘要

目的

认识到具有不确定意义的甲状腺结节不典型/滤泡性病变不确定意义(AUS/FLUS;Bethesda III)根据基因突变具有不同的恶性风险,并考虑对具有 AUS/FLUS 的结节进行分子检测,以帮助避免不必要的发病率或成本。

研究设计

回顾性队列研究。

设置

南加州 Kaiser Permanente 医疗集团的多个地点。

受试者和方法

纳入了 2014 年至 2017 年间通过 2 次细针抽吸术和 ThyGenX 检测结果为不确定的甲状腺结节和 AUS/FLUS 的患者,这些患者的检测结果为阳性,并进行了甲状腺手术。患者被分为良性或恶性疾病。无侵袭性滤泡性甲状腺肿瘤伴乳头状核特征被认为是良性的。

结果

共有 231 例患者进行了重复 AUS/FLUS 检测和阳性分子检测,并进行了手术。最常见的恶性肿瘤类型是乳头状癌,其次是滤泡癌。具有突变的结节的恶性肿瘤总体患病率为 74.0%,尽管存在相当大的差异: = 100%, = 100%, = 84.6%, = 70.7%, = 63.4%,和 = 33%-这是一个具有统计学意义的发现(<.001)。

结论

并非所有 AUS/FLUS 甲状腺结节的分子突变都具有高恶性风险。值得注意的是,我们人群中具有 和 突变的患者恶性肿瘤风险为 100%。具有 、 或 突变的患者恶性肿瘤风险较高,而具有 突变的患者恶性肿瘤风险较低。需要进一步的研究来确定某些分子突变的存在是否可以帮助个性化护理并有助于决定甲状腺手术。

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