Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China

Min Ren; Qianlan Yao; Longlong Bao; Zhiting Wang; Ran Wei; Qianming Bai; Bo Ping; Cai Chang; Yu Wang; Xiaoyan Zhou; Xiaoli Zhu

doi:10.1530/ETJ-21-0124

European Thyroid Journal (Jan 2023)

Diagnostic performance of next-generation sequencing and genetic profiling in thyroid nodules from a single center in China

Min Ren,
Qianlan Yao,
Longlong Bao,
Zhiting Wang,
Ran Wei,
Qianming Bai,
Bo Ping,
Cai Chang,
Yu Wang,
Xiaoyan Zhou,
Xiaoli Zhu

Affiliations

Min Ren: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Qianlan Yao: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Longlong Bao: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Zhiting Wang: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Ran Wei: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Qianming Bai: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Bo Ping: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Cai Chang: Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China; Department of Ultrasound, Fudan University Shanghai Cancer Center, Shanghai, China
Yu Wang: Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China; Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Xiaoyan Zhou: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China
Xiaoli Zhu: Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, China; Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, China

DOI: https://doi.org/10.1530/ETJ-21-0124
Journal volume & issue: Vol. 11, no. 3
pp. 1 – 9

Abstract

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Objective: The data regarding the mutation landscape in Chinese patients with thyroid cancer are limited. The diagnostic performance of thyroid nodul es by fine-needle aspiration (FNA) cytology needs optimization, especially in indeterminate nodules. Methods: A total of 1039 FNA and surgical resection samples tested using the targeted multigene next-generation sequencing (NGS) panel were retrospectively collected. The features of gene alterations in different thyroid tumors wer e analyzed, and the diagnostic efficacy was evaluated. Results: Among 1039 samples, there were 822 FNA and 217 surgical FFPE samples. Among 207 malignant thyroid resections, a total of 181 out of 193 papillary thyroid carcinomas (PTCs) were NGS-positive (93.8%), with a high prevalence of BRAF mutations (81.9%, 158/193) and a low prevalence of RAS (1.0%, 2/193) and TERT promoter mutations (3.6%, 7/193). Gene fusions, involving the RET and NTRK3 genes, were present in 20 PTCs (10.4%) and mutually exclusive with other driver mutations. Two of three follicular thyroid carcinomas harbored multiple mutations. RET gene point mutations were common in medullary thyroid carcinoma (8/11, 72.7%). The combination of cytology and DNA–RNA-based NGS analysis demonstrated superior diagnostic value (98.0%) in FNA samples. For indeterminate thyroid nodules, the diagnostic sens itivity and specificity of NGS testing were 79.2 (38/48) and 80.0% (8/10), respectively. Two mutation-positive benign cases harbored NRAS and TSHR mutations, respectively. Conclusions: Our study revealed the distinct molecular profile of thyroid tu mors in the Chinese population. The combination of NGS testing and FNA cytology could facilitate the accurate diagnosis of thyroid nodules, especially for indeterminate nodules.

Published in European Thyroid Journal

ISSN: 2235-0802 (Online)
Publisher: Bioscientifica
Country of publisher: United Kingdom
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the endocrine glands. Clinical endocrinology
Website: https://etj.bioscientifica.com/

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