The Journal of Practical Medicine ›› 2024, Vol. 40 ›› Issue (17): 2471-2476.doi: 10.3969/j.issn.1006-5725.2024.17.020

• Medical Examination and Clinical Diagnosis • Previous Articles     Next Articles

Application of FNA combined with next⁃generation sequencing in the diagnosis and treatment of thyroid nodules

Feng ZHU,Qing LI,Xi CHEN,Yang HE,Lei. PENG()   

  1. Department of Pathology,the Third Affiliated Hospital of Soochow University,Changzhou 213003,China
  • Received:2023-11-21 Online:2024-09-10 Published:2024-09-13
  • Contact: Lei. PENG E-mail:736552942@qq.com

Abstract:

Objective To investigate the role and clinical significance of fine-needle aspiration combined with next-generation sequencing 18 genes detection in the diagnosis of thyroid cancer. Methods The samples were tested by liquid-based cytology and next-generation sequencing. Cytological diagnosis was based on the 3rd edition Bethesda system for reporting thyroid cytopathology. Histological diagnosis was based on the fifth WHO classification criteria for thyroid neoplasms. Results Among 97 thyroid specimens, 8 cases (8.25%) were unsatisfied, 44 cases (45.36%) had benign lesions, 9 cases (9.28%) had atypical cells of unknown significance, 4 cases (4.12%) had suspected follicular or oncocytic tumors. Suspected papillary carcinoma was found in 10 cases (10.31%) and papillary carcinoma in 22 cases (22.68%). A total of 52 cases (53.61%) were mutated, and 10 gene mutations were detected, among which BRAF gene mutation had the highest detection rate 63.46% (33/52). BRAF gene mutation was associated with gender, age and cytological diagnosis(P < 0.05). Cytology combined with next-generation sequencing improved the diagnostic accuracy (97.0% vs. 81.8%), having higher diagnostic efficiency. Conclusion Thyroid fine-needle aspiration cytology combined with next-generation sequencing can promote early diagnosis of thyroid cancer and provide basis for individual treatment of patients.

Key words: fine needle aspiration, next-generation sequencing, gene mutation, thyroid cancer

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