Related Experiment Video
Updated: Sep 11, 2025
Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
Mutational Profiling Detection in FNAC Samples of Different Types of Thyroid Neoplasms Using Targeted NGS
Riying Liang1,2, Man Luo1,2, Xinhua Yang3,4
1Department of Ultrasound, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou 510120, China.
Background:
Thyroid neoplasms exhibit a diverse molecular landscape, and the 2022 WHO classification emphasizes the critical role of molecular profiling in thyroid cancer management; however, comprehensive mutational data from fine-needle aspiration cytology (FNAC) samples using targeted next-generation sequencing (NGS) are still limited, necessitating further investigation to guide clinical practice.
Purpose:
To characterize the mutational landscape of thyroid neoplasms using targeted NGS of FNAC samples and to assess the clinical implications of molecular profiling.
Materials And Methods:
This retrospective study included 952 patients with thyroid carcinomaneoplasms who underwent surgery at Sun Yat-sen Memorial Hospital from 2021 to 2023. Preoperative ultrasound, FNAC, and targeted NGS were performed. NGS panels covering 18, 88, and pan-cancer genes were used to analyze FNAC samples. Molecular alterations were correlated with clinical and pathological features.
Results:
The most frequent mutation was BRAFV600E (84.45%), followed by RET (6.41%), BRCA1/2 (4.41%) and RAS (4.41%). Patients were categorized into BRAF-like (830 cases), RAS-like (36 cases), high-risk mutations (25 cases), and other mutations (28 cases). High-risk mutations were associated with older age and larger tumor size. BRAF-like tumors had a higher lymph node metastasis rate (58.77%) compared to RAS-like tumors (33.33%). Tumor mutation burden varied significantly among different thyroid neoplasm subtypes.
Conclusions:
Molecular profiling using targeted NGS of FNAC samples provides valuable insights into the genetic landscape of thyroid neoplasms and has significant clinical implications for diagnosis and personalized treatment strategies. Further validation with paired tumor and plasma samples is warranted.
Insights
Targeted next-generation sequencing (NGS) of fine-needle aspiration cytology (FNAC) samples reveals common mutations like BRAFV600E in thyroid neoplasms. This molecular profiling aids in understanding tumor characteristics and guiding personalized treatment strategies.
Area of Science:
- Oncology
- Genetics
- Pathology
Background:
- Thyroid neoplasms have a complex molecular profile, with the 2022 WHO classification highlighting the importance of molecular profiling.
- Limited data exists on comprehensive mutational analysis from fine-needle aspiration cytology (FNAC) using targeted next-generation sequencing (NGS).
- Further research is needed to integrate molecular data into clinical practice for thyroid cancer management.
Purpose of the Study:
- To analyze the mutational landscape of thyroid neoplasms using targeted NGS on FNAC samples.
- To evaluate the clinical significance of molecular profiling in thyroid cancer.
Main Methods:
- Retrospective analysis of 952 thyroid carcinoma patients from 2021-2023.
- Preoperative ultrasound, FNAC, and targeted NGS were performed on FNAC samples.
- NGS panels analyzed 18, 88, and pan-cancer genes, correlating molecular alterations with clinical and pathological features.
Main Results:
- BRAFV600E was the most frequent mutation (84.45%), followed by RET, BRCA1/2, and RAS.
- Patients were classified into BRAF-like (830), RAS-like (36), high-risk (25), and other mutation groups (28).
- High-risk mutations correlated with older age and larger tumor size; BRAF-like tumors showed higher lymph node metastasis rates than RAS-like tumors.
Conclusions:
- Targeted NGS of FNAC samples offers valuable insights into thyroid neoplasm genetics.
- Molecular profiling has significant implications for thyroid cancer diagnosis and personalized treatment.
- Further validation using paired tumor and plasma samples is recommended.
