Related Experiment Video
Updated: May 13, 2025
08:16
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
6.7K
Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma
Xiaolian Fang1, Peng Luo2, Zhentian Kai2
1Department of Otorhinolaryngology, Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, 100730, China.
Clinical Endocrinology
|April 16, 2025
Summary
Multigene panel testing of fine-needle aspiration biopsies accurately distinguishes between intrathyroidal metastasis and independent primary tumors in multifocal papillary thyroid carcinoma. Comprehensive genetic profiling is crucial for personalized patient management and surgical decisions.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Multifocal papillary thyroid carcinoma (MPTC) presents diagnostic challenges in distinguishing between intrathyroidal metastasis (ITM) and independent primary tumors (IP).
- Accurate classification is essential for appropriate risk stratification and surgical planning in MPTC management.
Purpose of the Study:
- To analyze the relationship between clinical characteristics and pathogenic gene mutations in MPTC.
- To determine the proportion of IP versus ITM in MPTC.
- To explore correlations between specific gene mutations and clinical features.
Main Methods:
- Preoperative ultrasound-guided fine-needle aspiration biopsy (FNAB) was performed on two lesions per MPTC case.
- Multi-gene panel testing of 26 thyroid-related genes was conducted on FNAB samples.
- Lesions were classified as ITM, IP, or uncertain origin based on mutational profiles.
Main Results:
- Of 50 MPTC patients, 64% showed identical mutations (ITM) and 18% had completely discordant mutations (IP).
- BRAF V600E was the most common mutation (84%), but showed no significant correlation with clinical characteristics.
- The incidence of discordant mutations differed between ipsilateral and bilateral lesions (p=0.030).
Conclusions:
- Multi-gene panel testing of FNAB samples effectively differentiates clonal origins in MPTC.
- The high prevalence of BRAF V600E and frequent clonal homogeneity highlight the need for genetic profiling.
- Routine multi-lesion sampling is recommended for optimizing risk stratification and surgical decision-making in MPTC.
