scholarly journals Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer

Thyroid ◽  
2020 ◽  
Vol 30 (1) ◽  
pp. 42-56 ◽  
Author(s):  
Tariq Masoodi ◽  
Abdul K. Siraj ◽  
Sarah Siraj ◽  
Saud Azam ◽  
Zeeshan Qadri ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Exome Sequencing ◽  
Papillary Thyroid Cancer ◽  
Whole Exome Sequencing ◽  
Papillary Thyroid ◽  
Whole Exome

scholarly journals Whole Exome Sequencing Identifies a Novel Hedgehog-Interacting Protein G516R Mutation in Locally Advanced Papillary Thyroid Cancer

2018 ◽  
Vol 19 (10) ◽  
pp. 2867 ◽  
Author(s):  
Woo Lee ◽  
Seul Lee ◽  
Seung Yim ◽  
Daham Kim ◽  
Hyunji Kim ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Exome Sequencing ◽  
Papillary Thyroid Cancer ◽  
Whole Exome Sequencing ◽  
Primary Tumor ◽  
Tumor Heterogeneity ◽  
Locally Advanced ◽  
Papillary Thyroid ◽  
Whole Exome ◽  
Advanced Thyroid Cancer

Locally advanced thyroid cancer exhibits aggressive clinical features requiring extensive neck dissection. Therefore, it is important to identify changes in the tumor biology before local progression. Here, whole exome sequencing (WES) using tissues from locally advanced papillary thyroid cancer (PTC) presented a large number of single nucleotide variants (SNVs) in the metastatic lymph node (MLN), but not in normal tissues and primary tumors. Among those MLN-specific SNVs, a novel HHIP G516R (G1546A) mutation was also observed. Interestingly, in-depth analysis for exome sequencing data from the primary tumor presented altered nucleotide ‘A’ at a very low frequency indicating intra-tumor heterogeneity between the primary tumor and MLN. Computational prediction models such as PROVEAN and Polyphen suggested that HHIP G516R might affect protein function and stability. In vitro, HHIP G516R increased cell proliferation and promoted cell migration in thyroid cancer cells. HHIP G516R, a missense mutation, could be a representative example for the intra-tumor heterogeneity of locally advanced thyroid cancer, which can be a potential future therapeutic target for this disease.

scholarly journals The Profile of Genetic Mutations in Papillary Thyroid Cancer Detected by Whole Exome Sequencing

2018 ◽  
Vol 50 (1) ◽  
pp. 169-178 ◽  
Author(s):  
Yi Fang ◽  
Xiao Ma ◽  
Jing Zeng ◽  
Yanwen Jin ◽  
Yong Hu ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Exome Sequencing ◽  
Papillary Thyroid Cancer ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Signal Pathways ◽  
Papillary Thyroid ◽  
Driver Genes ◽  
Mutational Status ◽  
Whole Exome

Background/Aims: The purpose of the study was to investigate the altered driver genes and signal pathways during progression of papillary thyroid cancer (PTC) via next-generation sequencing technology. Methods: The DNA samples for whole exome sequencing (WES) analyses were extracted from 11 PTC tissues and adjacent normal tissues samples. Direct Sanger sequencing was applied to validate the identified mutations. Results: Among the 11 pairs of tissues specimens, 299 single nucleotide variants (SNVs) in 75 genes were identified. The most common pattern of base pair substitutions was T:A>C:G (49.83%), followed by C:G>T:A (18.06%) and C:G>G:C (15.05%). The altered genes were mainly implicated in MAPK (mitogen-activated protein kinase), PPAR (peroxisome proliferator-activated receptors), and p53 signaling pathways. In addition, 12 novel identified driver genes were validated by Sanger sequencing. The mutations of FAM133A, DPCR1, JAK1, C10orf10, EPB41L3, GPRASP1 and IWS1 exhibited in multiple PTC cases. Furthermore, the PTC cases exhibited individual mutational signature, even the same gene might present different mutational status in different cases. Conclusion: Multiple PTC-related somatic mutations and signal pathways are identified via WES and Sanger sequencing methods. The novel identified mutations in genes such as FAM133A, DPCR1, and JAK1 may be potential therapeutic targets for PTC patients.

Determination of the mutational landscape in Taiwanese patients with papillary thyroid cancer by whole-exome sequencing

2018 ◽  
Vol 78 ◽  
pp. 151-158 ◽  
Author(s):  
Chun-Chi Chang ◽  
Ya-Sian Chang ◽  
Hsi-Yuan Huang ◽  
Kun-Tu Yeh ◽  
Ta-Chih Liu ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Exome Sequencing ◽  
Papillary Thyroid Cancer ◽  
Whole Exome Sequencing ◽  
Papillary Thyroid ◽  
Mutational Landscape ◽  
Whole Exome

Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing

2018 ◽  
Vol 29 (4) ◽  
pp. 324-331 ◽  
Author(s):  
Ya-Sian Chang ◽  
Chun-Chi Chang ◽  
Hsi-Yuan Huang ◽  
Chien-Yu Lin ◽  
Kun-Tu Yeh ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Molecular Alterations ◽  
Whole Exome

scholarly journals Whole exome sequencing identifies lncRNAGAS8-AS1andLPAR4as novel papillary thyroid carcinoma driver alternations

2016 ◽  
Vol 25 (9) ◽  
pp. 1875-1884 ◽  
Author(s):  
Wenting Pan ◽  
Liqing Zhou ◽  
Minghua Ge ◽  
Bin Zhang ◽  
Xinyu Yang ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Papillary Thyroid ◽  
Whole Exome

72 - Predicting Response to Resensitization of Radioiodine Resistant Thyroid Cancer With Whole Exome Sequencing

2019 ◽  
Vol 43 (7) ◽  
pp. S27-S28
Author(s):  
Kirstie Lithgow ◽  
Helen Huang ◽  
Denise Chan ◽  
Moosa Khalil ◽  
Mike Bristow ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome

Whole-Exome Sequencing Identifies Two Discrete Druggable Signaling Pathways in Follicular Thyroid Cancer

2018 ◽  
Vol 226 (6) ◽  
pp. 950-959.e5 ◽  
Author(s):  
Neeta J. Erinjeri ◽  
Norman G. Nicolson ◽  
Christine Deyholos ◽  
Reju Korah ◽  
Tobias Carling
Keyword(s):  
Thyroid Cancer ◽  
Signaling Pathways ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Follicular Thyroid Cancer ◽  
Whole Exome

scholarly journals SAT-LB25 A Multi-Omics Analysis of Advanced Papillary Thyroid Cancer

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Akshay Sanghi ◽  
Lisa Orloff ◽  
Michael Snyder
Keyword(s):  
Thyroid Cancer ◽  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Exome Sequencing ◽  
Papillary Thyroid Cancer ◽  
Primary Tumor ◽  
Advanced Disease ◽  
Regulatory Elements ◽  
Research Network ◽  
Papillary Thyroid

Abstract Molecular profiling of papillary thyroid carcinoma has largely been confined to exome sequencing of non-aggressive cancer.1,2 Canonical mutations in BRAF and RAS are significantly represented in thyroid tumors, but these mutations have not resulted in diagnostics and therapeutics for advanced disease. To broadly examine the molecular landscape of advanced disease, we conducted a multi-omic analysis of 34 cases of advanced papillary thyroid carcinoma, including patient-matched lymph node metastases, primary tumor, adjacent-normal thyroid and germline. Our genome-wide multi-omic analysis links the regions of activated chromatin with expressed transcripts and proteins, identifying regulatory elements at primary tumor and nodal metastases stages of thyroid cancer progression. Distal regulatory elements putatively upregulate expression of MAPK-pathway genes in both tumors and metastases (36 genes (p =0.0057) in tumors and 76 genes (p =0.0011) in metastases). Furthermore, tumors and metastases harbor accessible chromatin regions that appear to be bound by MAPK transcription factors, FOS and JUN (p-value <10-150 for tumors and metastases). This study identifies regulatory elements that mediate MAPK activity in tumors and metastases of advanced papillary thyroid carcinoma and may ultimately lead to diagnostics and therapeutics that utilize advanced-thyroid-cancer-specific epigenetic targets. References • Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014 • Masoodi T, et al. Whole-Exome Sequencing of Matched Primary and Metastatic Papillary Thyroid Cancer. Thyroid. 2020

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