Descriptive Analysis of Common Fusion Mutations in Papillary Thyroid Carcinoma in Hungary
Abstract
:1. Introduction
2. Results
2.1. Study Population
2.2. Descriptive Analysis
2.3. Principal Component Analysis (PCA) Based on d-Correlation of Mixed Scale-Type Variables of Fusion Mutation Status and Clinicopathological Data
2.4. Deeper Analysis for Associations between NTRK3 and ETV6 Fusions and Clinicopathological Variables
2.5. Analysis for Associations between Ratio-Scale, Ordinal, and Clinicopathological Variables
2.6. Outlook toward Not Fusion-Related Clinicopathological Associations of PTC Patients
3. Discussion
4. Materials and Methods
4.1. Study Population, Sample Collection, and Histopathological Processing
4.2. Molecular Processing for Identification of Fusion Mutations (RNA Isolation, Quality Control (QC), RNA Quantification and Sequencing)
4.3. Data Analysis via Bioinformatics and Statistical Evaluation
4.4. Literature Search
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
Abbreviations
Abbreviation | Meaning |
ABL1 | tyrosine-protein kinase ABL1 gene |
AJCC | American Joint Committee on Cancer |
AKT3 | AKT serine/threonine kinase 3 gene |
ALK | anaplastic lymphoma kinase gene |
ATA | American Thyroid Association |
AXL | AXL receptor tyrosine kinase gene |
BCR | breakpoint cluster region protein gene |
BRAF | proto-oncogene B-Raf |
CA | California |
CNV | copy number variation |
DNA | deoxyribonucleic acid |
DTC | differentiated thyroid cancer |
EBRT | external beam radiation therapy |
EGFR | epidermal growth factor receptor gene |
ERBB2 | erb-b2 receptor tyrosine kinase 2 gene |
ERG | ETS-related gene |
ETV | ETS variant transcription factor gene |
FFPE | formalin-fixed paraffin-embedded |
FGFR | fibroblast growth factor receptor gene |
FISH | fluorescence in situ hybridization |
FNAB | fine-needle aspiration biopsy |
FTC | follicular thyroid carcinoma |
FuPa | fragmentase universal primer assay |
I-131 | iodine-131 isotope |
IHC | immunohistochemistry |
IL | Illinois |
ISP | Ion Sphere Particle |
MAPK | mitogen-activated protein kinase |
MET | c-Met gene |
miRNA | micro-ribonucleic acid |
NCBI | National Center for Biotechnology Information |
NGS | next-generation sequencing |
NTRK | neurotrophic tyrosine receptor kinase gene |
PCA | principal component analysis |
PCR | polymerase chain reaction |
PDGFRA | platelet-derived growth factor receptor A gene |
PI3K | phosphatidylinositol 3-kinase |
PLCγ | phosphatidylinositol phospholipase C γ |
PPARG | peroxisome proliferator-activated receptor γ gene |
PTC | papillary thyroid carcinoma |
QC | quality control |
qPCR | quantitative polymerase chain reaction |
R stage | residual tumor classification |
RAF1 | Raf-1 proto-oncogene |
RAI | radioiodine therapy |
RAS | rat sarcoma virus gene |
RET | ret proto-oncogene |
RNA | ribonucleic acid |
ROS1 | ROS proto-oncogene 1 |
SD | standard deviation |
TNM | TNM Classification of Malignant Tumors |
USA | United States of America |
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PTC Subtype | n = 100 |
---|---|
conventional | 69 |
follicular variant | 17 |
oncocytic | 6 |
tall cell | 3 |
columnar cell | 2 |
encapsulated conventional | 1 |
trabecular | 1 |
Warthin-like | 1 |
Fusion Gene | Cancer Type |
---|---|
RET | thyroid carcinoma, salivary intraductal carcinoma |
NTRK3 | breast carcinoma, fibrosarcoma |
CCDC6 | thyroid carcinoma |
ETV6 | acute lymphoblastic leukemia, breast carcinoma, fibrosarcoma |
MET | NSCLC |
ALK | anaplastic large T-cell lymphoma |
NCOA4 | prostate cancer, salivary intraductal carcinoma |
EML4 | lung cancer |
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Armos, R.; Bojtor, B.; Podani, J.; Illyes, I.; Balla, B.; Putz, Z.; Kiss, A.; Kohanka, A.; Toth, E.; Takacs, I.; et al. Descriptive Analysis of Common Fusion Mutations in Papillary Thyroid Carcinoma in Hungary. Int. J. Mol. Sci. 2024, 25, 10787. https://doi.org/10.3390/ijms251910787
Armos R, Bojtor B, Podani J, Illyes I, Balla B, Putz Z, Kiss A, Kohanka A, Toth E, Takacs I, et al. Descriptive Analysis of Common Fusion Mutations in Papillary Thyroid Carcinoma in Hungary. International Journal of Molecular Sciences. 2024; 25(19):10787. https://doi.org/10.3390/ijms251910787
Chicago/Turabian StyleArmos, Richard, Bence Bojtor, Janos Podani, Ildiko Illyes, Bernadett Balla, Zsuzsanna Putz, Andras Kiss, Andrea Kohanka, Erika Toth, Istvan Takacs, and et al. 2024. "Descriptive Analysis of Common Fusion Mutations in Papillary Thyroid Carcinoma in Hungary" International Journal of Molecular Sciences 25, no. 19: 10787. https://doi.org/10.3390/ijms251910787