A Concise Atlas of Thyroid Cancer Next-Generation Sequencing Panel ThyroSeq v.2

Alsina, Jorge Bustamante; Alsina, Raul; Güleç, Seza A.

doi:10.4274/2017.26.suppl.12

Cited by 9 publications

(10 citation statements)

References 81 publications

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“…Next-generation sequencing (NGS) technology allows interrogation of the entire genome of thyroid cancer, including point mutations and copy number alterations. ThyroSeq version 2 genomic and molecular profiling sequences has detected more than 1000 hotspots of 14 thyroid cancer-related genes, and 42 types of gene fusions are now known to exist in thyroid cancer [15,16]. In this patient, ThyroSeq analysis of the thyroid tumor tissue showed a the ETS variant 6/neurotrophic receptor tyrosine kinase 3 ( ETV6/NTRK3 ) gene mutation with chromosomal rearrangement of the NTRK3 gene.…”

Section: Discussionmentioning

confidence: 99%

“…Serum TG is clinically used to monitor thyroid cancer recurrence after initial treatment. TG dysregulation is a known oncogene that correlates with tumor differentiation [15,21].…”

Section: Discussionmentioning

confidence: 99%

“…The thyroid stimulating hormone receptor ( TSHR) gene, located on chromosome 14q31, is responsible for encoding the thyroid stimulating hormone receptor. Once this receptor is activated by thyroid stimulating hormone (TSH), a chain of intracellular signaling sets off via second messengers like cAMP and orchestrates thyroid cell proliferation and maintenance of thyroid function [15]. Deregulation of TSHR appears to plan an important role in thyroid carcinogenesis [22].…”

Section: Discussionmentioning

confidence: 99%

“…Tissue samples from the surgical excision of the thyroid tumor underwent next-generation sequencing (NGS) using the ThyroSeq Genomic Classifier [15] which showed fusion of the ETS variant 6/neurotrophic receptor tyrosine kinase 3 ( ETV6 / NTRK3 ) oncogenes. Because of the patient’s prior history of myelosuppression in the setting of Kostmann syndrome, AML, and the associated complications, the safety of the use of RAI therapy was questioned.…”

Section: Case Reportmentioning

confidence: 99%

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A Case of Papillary Thyroid Carcinoma and Kostmann Syndrome: A Genomic Theranostic Approach for Comprehensive Treatment

et al. 2019

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Patient: Female, 32 Final Diagnosis: Papillary thyroid carcinoma Symptoms: Cervical node metastasis Medication: — Clinical Procedure: Radioactive iodine treatment Specialty: Oncology Objective: Rare co-existance of disease or pathology Background: Theranostics is a combined diagnostic and treatment approach to individualized patient care. Kostmann syndrome, or severe congenital neutropenia, is an autosomal recessive disease that affects the production of neutrophils. Papillary thyroid carcinoma (PTC) is the most common type of thyroid malignancy associated with gene alterations, including in the mitogen-activated protein kinase ( MAPK ) signaling pathway gene. Translocation of the ETS variant 6/neurotrophic receptor tyrosine kinase 3 ( ETV6/NTRK3 ) gene has been implicated in radiation-induced and pediatric forms of thyroid carcinoma but has rarely been described in sporadic PTC. This report is of a case of PTC in a patient with Kostmann syndrome associated with ETV6/NTRK3 gene translocation. Case Report: A 32-year-old woman with a history of Kostmann syndrome, acute myeloid leukemia (AML), and chronic graft versus host disease (GVHD) was diagnosed with PTC with cervical lymph node metastases and soft tissue invasion following total thyroidectomy and bilateral modified radical neck dissection. Her postoperative radioactive iodine (RAI) scan confirmed lymph node metastasis. Gene expression studies identified increased expression of iodine-handling genes and ETV6/NTRK3 gene fusion. Because of the bone marrow compromise due to Kostmann syndrome and AML, a careful genomic and molecular analysis was performed to guide therapy. Conclusions: This is the first reported case of the association between PTC, Kostmann syndrome, and ETV6/NTRK3 gene translocation in which multimodality treatment planning was optimized by genomic profiling.

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Section: Discussionmentioning

confidence: 99%

“…Serum TG is clinically used to monitor thyroid cancer recurrence after initial treatment. TG dysregulation is a known oncogene that correlates with tumor differentiation [15,21].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

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A Case of Papillary Thyroid Carcinoma and Kostmann Syndrome: A Genomic Theranostic Approach for Comprehensive Treatment

et al. 2019

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“…Recently, scientists have demonstrated the involvement of genetic and epigenetic alterations in the development and progression of thyroid cancer. In addition to common gene mutations, such as mutations in BRAF [ 7 – 11 ], matrix metalloproteinase-2 [ 12 ], Ras family genes [ 13 , 14 ], phosphatase and tensin homolog ( PTEN ) [ 15 , 16 ], phosphatidylinositol 3-kinase ( PIK3CA ) [ 17 , 18 ], anaplastic lymphoma kinase ( ALK ) [ 19 ], β-catenin 1 ( CTNNB1 ) [ 20 , 21 ], isocitrate dehydrogenase 1 ( IDH1 ) [ 22 ], survivin [ 23 ], and epidermal growth factor receptor ( EGFR ) [ 24 , 25 ], epigenetic alterations have also been shown to be important in thyroid cancer. Alterations in the genome by means of DNA methylation or histonemodification without altering the underlying DNA sequence, resulting in changes in the expression of target genes, are called epigenetic changes [ 26 ].…”

Section: Introductionmentioning

confidence: 99%

Meta-analysis of promoter methylation in eight tumor-suppressor genes and its association with the risk of thyroid cancer

et al. 2017

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Promoter methylation in a number of tumor-suppressor genes (TSGs) can play crucial roles in the development of thyroid carcinogenesis. The focus of the current meta-analysis was to determine the impact of promoter methylation of eight selected candidate TSGs on thyroid cancer and to identify the most important molecules in this carcinogenesis pathway. A comprehensive search was performed using Pub Med, Scopus, and ISI Web of Knowledge databases, and eligible studies were included. The methodological quality of the included studies was evaluated according to the Newcastle Ottawa scale table and pooled odds ratios (ORs); 95% confidence intervals (CIs) were used to estimate the strength of the associations with Stata 12.0 software. Egger’s and Begg’s tests were applied to detect publication bias, in addition to the “Metatrim” method. A total of 55 articles were selected, and 135 genes with altered promoter methylation were found. Finally, we included eight TSGs that were found in more than four studies (RASSF1, TSHR, PTEN, SLC5A, DAPK, P16, RARβ2, and CDH1). The order of the pooled ORs for these eight TSGs from more to less significant was CDH1 (OR = 6.73), SLC5 (OR = 6.15), RASSF1 (OR = 4.16), PTEN (OR = 3.61), DAPK (OR = 3.51), P16 (OR = 3.31), TSHR (OR = 2.93), and RARβ2 (OR = 1.50). Analyses of publication bias and sensitivity confirmed that there was very little bias. Thus, our findings showed that CDH1 and SCL5A8 genes were associated with the risk of thyroid tumor genesis.

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