Gene expression signature associated with BRAFV600E mutation in human papillary thyroid carcinoma based on transgenic mouse model

Background and objectives: Papillary thyroid carcinoma is the most frequent variety of all malignant endocrine tumors. It represents a heterogeneous malignancy with various clinical outcomes, emphasizing the need to identify powerful biomarkers with clinical relevance. Materials and Methods: Available gene expression data (level 3) for thyroid cancers were downloaded from the Cancer Genome Atlas (TCGA), followed by bioinformatic analyses performed on the data set. Results: Based on gene expression analysis, we were able to identify common and specific gene signatures for the three main types of papillary thyroid carcinoma (classical, follicular variant, and tall-cell). The survival rate was not significantly different among the main subtypes, but we were able to identify a biological adhesion signature with impact in patient prognostic. Conclusions: Taken together, the gene expression signature and particular adhesion signature, along with ITGA10 and MSLN in particular, could be used as a prognostic tool with important clinical relevance.

Download Full-text

Aggressive Papillary Thyroid Carcinoma without Brafv600e Mutation

Acta Medica Anatolia ◽

10.15824/actamedica.48684 ◽

2014 ◽

Vol 2 (4) ◽

Author(s):

Emine Demirbaş ◽

Mehmet Aşık ◽

Semra Özdemir ◽

Hacer Şen ◽

Fahri Güneş ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Papillary Thyroid ◽

Brafv600e Mutation

Download Full-text

Faculty Opinions recommendation of A neurodegeneration-specific gene-expression signature of acutely isolated microglia from an amyotrophic lateral sclerosis mouse model.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718030960.793490073 ◽

2014 ◽

Author(s):

Axel Nimmerjahn

Keyword(s):

Gene Expression ◽

Amyotrophic Lateral Sclerosis ◽

Mouse Model ◽

Gene Expression Signature ◽

Specific Gene ◽

Expression Signature ◽

Specific Gene Expression ◽

Lateral Sclerosis

Download Full-text

BRAFV600E MUTATION IN PAPILLARY THYROID CARCINOMA. CLINICAL AND METHODOLOGICAL ASPECTS

Problems in oncology ◽

10.37469/0507-3758-2019-65-1-16-26 ◽

2019 ◽

Vol 65 (1) ◽

pp. 16-26

Author(s):

Pavel Rumyantsev ◽

Petr Nikiforovich ◽

Andrey Poloznikov ◽

Andrey Abrosimov ◽

Vladimir Saenko ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Kinase Inhibitors ◽

Anaplastic Carcinoma ◽

Braf V600e ◽

Papillary Thyroid ◽

Brafv600e Mutation ◽

Wide Range ◽

Methodological Aspects

Mutation BRAFV600E is highly specific for papillary thyroid carcinoma. It’s detected in 40-70% of all papillary thyroid carcinoma cases. Moreover this mutation is noticed in anaplastic carcinoma in 40-50%.This fact gives a chance to select patients and provide targeted therapy with multi-kinase inhibitors in cases of unresectable anaplastic carcinoma. The influence of BRAF V600E mutation for response to radioactive iodine therapy requires more evidence-based research. Existing methods for determining the BRAFV600E mutation have different accuracy, availability and cost. Other methodological aspects are also associated with the sample preparation of biological material, the quality of reagents, and the cross-validation of research results. In this review, on the basis of our own experience and literature data, the indications for determining the mutation of the BRAFV600E gene in clinical practice are refined, and a comprehensive comparative analysis of modern research methods has been conducted. This review is focused on a wide range of specialists of different types: oncologists, endocrinologists, radiologists, pathologists, and biologists.

Download Full-text

Amino Acid-Modified Calcitonin Immunization Induces Tumor Epitope-Specific Immunity in a Transgenic Mouse Model for Medullary Thyroid Carcinoma

Yearbook of Endocrinology ◽

10.1016/s0084-3741(10)79456-7 ◽

2010 ◽

Vol 2010 ◽

pp. 180-182

Author(s):

S. Schinner

Keyword(s):

Amino Acid ◽

Mouse Model ◽

Thyroid Carcinoma ◽

Medullary Thyroid Carcinoma ◽

Transgenic Mouse ◽

Transgenic Mouse Model ◽

Medullary Thyroid ◽

Specific Immunity

Download Full-text

The ratio of BRAFV600E alleles can be used to assess the biological behavior of papillary thyroid carcinoma

10.1101/2020.10.31.20223610 ◽

2020 ◽

Author(s):

Dingcun Luo ◽

Yeqin Ni ◽

Shirong Zhang ◽

Yanping Xun ◽

Pan Zhao ◽

...

Keyword(s):

Papillary Thyroid Carcinoma ◽

Thyroid Carcinoma ◽

Tumor Recurrence ◽

Recurrence Risk ◽

Tumor Stage ◽

Biological Behavior ◽

Clinicopathological Parameters ◽

Quantitative Detection ◽

Papillary Thyroid ◽

Brafv600e Mutation

ABSTRACTBackgroundThe BRAFV600E mutations is an important molecular event in the occurrence and development of papillary thyroid carcinoma (PTC). A qualitative detection of the BRAFV600E mutation is still insufficient to explain the biological behavior of PTC. Though quantitative detection of the BRAFV600E mutation can reflect certain characteristics of PTC, its clinical value is still controversial. We aimed to investigate the association between the ratio of BRAFV600E alleles and clinicopathological parameters in PTC patients.MethodsGenomic DNA was extracted from specimens obtained from 329 PTC patients undergoing thyroidectomy. The ratio of BRAFV600E alleles was determined by amplification refractory mutation system (ARMS) and droplet digital polymerase chain reaction (ddPCR). Inconsistent results were further verified by next-generation sequencing (NGS). The clinicopathologic features, clinical tumor stage, and tumor recurrence risk stratification of all patients were correlated with the ratio of BRAFV600E alleles.ResultsThe sensitivity of ddPCR was superior to that of ARMS and almost the same as that of NGS. In total, 275 of 329 patients had the BRAFV600E mutation as determined by ARMS, ddPCR and NGS. The ratio of BRAFV600E alleles ranged from 0.17%-48.0%, with a median ratio of 12.58%, and significantly correlated with tumor size (p<0.001), capsule or extrathyroidal invasion (p<0.001), the number or rate of lymph node metastases (p<0.001), tumor stage (p=0.006) and tumor recurrence risk (p<0.001) but not with sex, age or multifocality. The ratio of BRAFV600E alleles was much lower in PTC patients with Hashimoto’s thyroiditis than in those without (p<0.001).ConclusionsThe ratio of BRAFV600E alleles can reliably reflect the biological behavior of PTC, making it a molecular-based stratification index of recurrence risk. The quantitative detection of BRAFV600E has the potential to guide the clinical diagnosis and treatment of PTC.

Download Full-text