Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing
Objective. The objective of this study is to explore the utilization of next-generation sequencing (NGS) technology in evaluating the likelihood of identifying individuals with papillary thyroid microcarcinoma (PTMC ≤10 mm) who are at high or low risk. Design. NGS was used to analyze 393 formalin-fi...
Saved in:
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-01-01
|
| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2024/2470721 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832559632058417152 |
|---|---|
| author | Lei Jin Liang Zhou Jian-Biao Wang Li Tao Xiao-Xiao Lu Na Yan Qian-Ming Chen Li-Ping Cao Lei Xie |
| author_facet | Lei Jin Liang Zhou Jian-Biao Wang Li Tao Xiao-Xiao Lu Na Yan Qian-Ming Chen Li-Ping Cao Lei Xie |
| author_sort | Lei Jin |
| collection | DOAJ |
| description | Objective. The objective of this study is to explore the utilization of next-generation sequencing (NGS) technology in evaluating the likelihood of identifying individuals with papillary thyroid microcarcinoma (PTMC ≤10 mm) who are at high or low risk. Design. NGS was used to analyze 393 formalin-fixed, paraffin-embedded tissues of PTC tumors, all of which were smaller than 15 mm. Results. The study found that bilateralism, multifocality, intrathyroidal spread, and extrathyroidal extension were present in 84 (21.4%), 153 (38.9%), 16 (4.1%), and 54 (13.7%) cases, respectively. Metastasis of cervical lymph nodes was identified in 226 (57.5%) cases and 96 (24.4%) cases with CLNM >5. Out of the total number of cases studied, 8 cases (2.3%) showed signs of tumor recurrence, all of which were localized and regional. Genetic alterations were detected in 342 cases (87.0%), with 336 cases revealing single mutations and 6 cases manifesting compound mutations. 332 cases (84.5%) had BRAFV600E mutation, 2 cases had KRASQ61K mutation, 2 cases had NRASQ61R mutation, 8 cases had RET/PTC1 rearrangement, 3 cases had RET/PTC3 rearrangement, and 1 case had TERT promoter mutation. Additionally, six individuals harbored concurrent mutations in two genes. These mutations were of various types and combinations: BRAFV600E and NRASQ61R (n = 2), BRAFV600E and RET/PTC3 (n = 2), BRAFV600E and RET/PTC1 (n = 1), and BRAFV600E and TERT promoter (n = 1). The subsequent analysis did not uncover a significant distinction in the incidence of gene mutation or fusion between the cN0 and cN1 patient cohorts. The presence of BRAFV600E mutation and CLNM incidence rates were found to be positively correlated with larger tumor size in PTMC. Our data showed that gene mutations did not appear to have much to do with high-risk papillary thyroid microcarcinoma (PTMC). However, when we looked at tumor size, we found that if the tumor was at least 5 millimeters in size, there was a higher chance of it being at high risk for PTM (P<0.001, odds ratio (OR) = 2.55, 95% confidence interval (CI): 1.57–4.14). Identification of BRAFV600E mutation was not demonstrated to be significantly correlated with advanced clinicopathological characteristics, although it was strongly associated with a bigger tumor diameter (OR = 4.92, 95% CI: 2.40–10.07, P<0.001). Conclusion. In clinical practice, BRAFV600E mutation does not consistently serve as an effective biomarker to distinguish high-risk PTMC or predict tumor progression. The size of the tumor has a significant correlation with its aggressive characteristics. PTMC with a diameter of ≤5 mm should be distinguished and targeted as a unique subset for specialized treatment. |
| format | Article |
| id | doaj-art-77d975061bb940b5a775f20681cecc03 |
| institution | Kabale University |
| issn | 1687-8345 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-77d975061bb940b5a775f20681cecc032025-02-03T01:29:32ZengWileyInternational Journal of Endocrinology1687-83452024-01-01202410.1155/2024/2470721Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation SequencingLei Jin0Liang Zhou1Jian-Biao Wang2Li Tao3Xiao-Xiao Lu4Na Yan5Qian-Ming Chen6Li-Ping Cao7Lei Xie8Department of Head and Neck SurgeryDepartment of Head and Neck SurgeryDepartment of Head and Neck SurgeryDepartment of Head and Neck SurgeryDepartment of Head and Neck SurgeryKey Laboratory of Digital Technology in Medical Diagnostics of Zhejiang ProvinceStomatology HospitalDepartment of General SurgeryDepartment of Head and Neck SurgeryObjective. The objective of this study is to explore the utilization of next-generation sequencing (NGS) technology in evaluating the likelihood of identifying individuals with papillary thyroid microcarcinoma (PTMC ≤10 mm) who are at high or low risk. Design. NGS was used to analyze 393 formalin-fixed, paraffin-embedded tissues of PTC tumors, all of which were smaller than 15 mm. Results. The study found that bilateralism, multifocality, intrathyroidal spread, and extrathyroidal extension were present in 84 (21.4%), 153 (38.9%), 16 (4.1%), and 54 (13.7%) cases, respectively. Metastasis of cervical lymph nodes was identified in 226 (57.5%) cases and 96 (24.4%) cases with CLNM >5. Out of the total number of cases studied, 8 cases (2.3%) showed signs of tumor recurrence, all of which were localized and regional. Genetic alterations were detected in 342 cases (87.0%), with 336 cases revealing single mutations and 6 cases manifesting compound mutations. 332 cases (84.5%) had BRAFV600E mutation, 2 cases had KRASQ61K mutation, 2 cases had NRASQ61R mutation, 8 cases had RET/PTC1 rearrangement, 3 cases had RET/PTC3 rearrangement, and 1 case had TERT promoter mutation. Additionally, six individuals harbored concurrent mutations in two genes. These mutations were of various types and combinations: BRAFV600E and NRASQ61R (n = 2), BRAFV600E and RET/PTC3 (n = 2), BRAFV600E and RET/PTC1 (n = 1), and BRAFV600E and TERT promoter (n = 1). The subsequent analysis did not uncover a significant distinction in the incidence of gene mutation or fusion between the cN0 and cN1 patient cohorts. The presence of BRAFV600E mutation and CLNM incidence rates were found to be positively correlated with larger tumor size in PTMC. Our data showed that gene mutations did not appear to have much to do with high-risk papillary thyroid microcarcinoma (PTMC). However, when we looked at tumor size, we found that if the tumor was at least 5 millimeters in size, there was a higher chance of it being at high risk for PTM (P<0.001, odds ratio (OR) = 2.55, 95% confidence interval (CI): 1.57–4.14). Identification of BRAFV600E mutation was not demonstrated to be significantly correlated with advanced clinicopathological characteristics, although it was strongly associated with a bigger tumor diameter (OR = 4.92, 95% CI: 2.40–10.07, P<0.001). Conclusion. In clinical practice, BRAFV600E mutation does not consistently serve as an effective biomarker to distinguish high-risk PTMC or predict tumor progression. The size of the tumor has a significant correlation with its aggressive characteristics. PTMC with a diameter of ≤5 mm should be distinguished and targeted as a unique subset for specialized treatment.http://dx.doi.org/10.1155/2024/2470721 |
| spellingShingle | Lei Jin Liang Zhou Jian-Biao Wang Li Tao Xiao-Xiao Lu Na Yan Qian-Ming Chen Li-Ping Cao Lei Xie Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing International Journal of Endocrinology |
| title | Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing |
| title_full | Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing |
| title_fullStr | Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing |
| title_full_unstemmed | Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing |
| title_short | Whether Detection of Gene Mutations Could Identify Low- or High-Risk Papillary Thyroid Microcarcinoma? Data from 393 Cases Using the Next-Generation Sequencing |
| title_sort | whether detection of gene mutations could identify low or high risk papillary thyroid microcarcinoma data from 393 cases using the next generation sequencing |
| url | http://dx.doi.org/10.1155/2024/2470721 |
| work_keys_str_mv | AT leijin whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT liangzhou whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT jianbiaowang whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT litao whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT xiaoxiaolu whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT nayan whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT qianmingchen whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT lipingcao whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing AT leixie whetherdetectionofgenemutationscouldidentifyloworhighriskpapillarythyroidmicrocarcinomadatafrom393casesusingthenextgenerationsequencing |