Genetic Profiles of Aggressive Variants of Papillary Thyroid Carcinomas
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
2.1. Patients and Tissue Samples
2.2. DNA Extraction and Targeted NGS
2.3. Analysis Process
2.4. Statistical Analysis
3. Results
3.1. Baseline Characteristics of Patients with Aggressive Variants of PTC
3.2. Somatic Mutations in Aggressive Variants of PTC
3.3. Mutatios in Drivers and Other Relevant Genes
3.4. Mutations in TERT Promoter
3.5. Mutations in Tumor Suppressor Genes
3.6. Mutations in Key Pathways and Functional Groups
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Characteristics | Number (%) or Median (IQR) |
---|---|
Gender, Female | 27 (75.0%) |
Age (years) | 43.5 (34.8–51.0) |
≥55 years | 7 (19.4%) |
Pathology | |
TCV-PTC | 25 (69.4%) |
CCV-PTC | 11 (30.6%) |
Surgery | |
Lobectomy | 2 (5.6%) |
TT with CND | 16 (44.4%) |
TT with MRND | 18 (50.0%) |
Primary tumor size | 2.0 (1.2–2.8) |
>2 cm | 17 (47.2%) |
Extrathyroidal extension | |
Microscopic | 10 (27.8%) |
Gross | 19 (52.8%) |
Multifocality (yes) | 17 (47.2%) |
Cervical lymph node metastasis (yes) | 32 (88.9%) |
N1a | 14 (43.8%) |
N1b | 18 (56.2%) |
Distant metastasis | 0 (0.0%) |
AJCC TNM 8th stage | |
Stage I | 31 (86.1%) |
Stage II | 4 (11.1%) |
Stage III | 1 (2.8%) |
Stage IV | 0 (0.0%) |
Pathological Subtypes of Thyroid Cancer | PTC-TCGA (n = 402) | Aggressive Variant PTC (n = 36) | PDTC-MSKCC (n = 84) | ATC-MSKCC (n = 33) |
---|---|---|---|---|
Key pathways and functional groups | 20% | 34% | 20% | 61% |
HMTs | - | 11% | 7% | 24% |
KMT2A | 1% | 0% | 4% | 9% |
KMT2C | 1% | 11% | 2% | 3% |
KMT2D | 0% | - | 1% | 15% |
SETD2 | 0.2% | - | 0% | 3% |
SWI/SNF complex | - | 14% | 6% | 36% |
ARID1A | 0% | 0% | 1% | 9% |
ARID1B | 1% | 6% | 4% | 9% |
ARID2 | 0.2% | 6% | 1% | 3% |
ARID5B | 0.2% | 0% | 0% | 3% |
SMARCB1 | 0% | 0% | 0% | 6% |
PBRM1 | 0% | 0% | 1% | 6% |
ATRX | 0.2% | 3% | 0% | 6% |
PI3K/AKT/mTOR pathway | 5% | 11% | 11% | 39% |
PIK3CA | 0.4% | 0% | 2% | 18% |
PTEN | 1% | 0% | 4% | 15% |
PIK3C2G | 0.2% | 0% | 1% | 6% |
PIK3CG | 0.2% | 0% | 1% | 6% |
PIK3C3 | 0% | - | 1% | 0% |
PIK3R1 | 0.2% | - | 1% | 0% |
PIK3R2 | 0.2% | - | 0% | 3% |
AKT1 | 0.6% | 3% | 0% | 0% |
AKT3 | 1% | 3% | 1% | 0% |
TSC1 | 0.8% | - | 1% | 0% |
TSC2 | 0.2% | 0% | 0% | 3% |
MTOR | 0% | 0% | 1% | 6% |
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Jin, M.; Song, D.E.; Ahn, J.; Song, E.; Lee, Y.-M.; Sung, T.-Y.; Kim, T.Y.; Kim, W.B.; Shong, Y.K.; Jeon, M.J.; et al. Genetic Profiles of Aggressive Variants of Papillary Thyroid Carcinomas. Cancers 2021, 13, 892. https://doi.org/10.3390/cancers13040892
Jin M, Song DE, Ahn J, Song E, Lee Y-M, Sung T-Y, Kim TY, Kim WB, Shong YK, Jeon MJ, et al. Genetic Profiles of Aggressive Variants of Papillary Thyroid Carcinomas. Cancers. 2021; 13(4):892. https://doi.org/10.3390/cancers13040892
Chicago/Turabian StyleJin, Meihua, Dong Eun Song, Jonghwa Ahn, Eyun Song, Yu-Mi Lee, Tae-Yon Sung, Tae Yong Kim, Won Bae Kim, Young Kee Shong, Min Ji Jeon, and et al. 2021. "Genetic Profiles of Aggressive Variants of Papillary Thyroid Carcinomas" Cancers 13, no. 4: 892. https://doi.org/10.3390/cancers13040892