scholarly journals Gene expression profile of human thyroid cancer in relation to its mutational status

2011 ◽  
Vol 47 (3) ◽  
pp. R91-R103 ◽  
Author(s):  
Dagmara Rusinek ◽  
Sylwia Szpak-Ulczok ◽  
Barbara Jarzab

This review describes the gene expression profile changes associated with the presence of different mutations that contribute to thyroid cell carcinogenesis. The results are discussed in the context of thyroid cancer biology and of the implications for disease prognosis, while the diagnostic aspect has been omitted. For papillary thyroid cancer (PTC), the most characteristic gene expression profile is associated with the presence ofBRAFmutation. BRAF-associated PTC differ profoundly from RET/PTC or RAS-associated cancers. Simultaneously, they retain many characteristic gene expression features common for all PTCs, induced by the alternative mutations activating MAPK pathway. Although the difference between papillary and follicular thyroid cancer (FTC) is significant at the gene expression profile level, surprisingly, the RAS-related signature of FTC is not well specified.PAX8/peroxisome proliferator-activated receptor γ (PPARγ) rearrangements, which occur in FTC as an alternative to theRASmutation, are associated with specific changes in gene expression. Furthermore, the difference between well-differentiated thyroid cancers and poorly differentiated and anaplastic thyroid cancers is mainly a reflection of tumor degree of differentiation and may not be attributed to the presence of characteristic mutations.

2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
Milad Abolhalaj ◽  
Mahsa M. Amoli ◽  
Parvin Amiri

Subject & Aim. Endothelial nitric oxide synthase (eNOS) is one of the most important candidate genes in CAD. A functional polymorphism within eNOS gene is a 27 bp VNTR on its intron 4 which has been shown to be associated with various diseases. In this study we investigated eNOS VNTR polymorphism in addition to eNOS gene expression profile in patients with CAD. Material and Methods. The study comprised patients with angiographically confirmed CAD (CAD+) and individuals with normal coronary as CAD−. eNOS VNTR polymorphism frequencies were determined in both groups. In addition eNOS gene expression profile was examined using a quantitative real-time PCR. Results. We have found that aa genotype was significantly increasing the risk of CAD in our patients (aa versus ab + bb, , ; 95% CI: = 0.98 to 16.2). The differences in eNOS expression were not significant between patients and normal group; however in CAD+ patients eNOS expression was higher than the expression level of patients carrying other genotypes (). Conclusion. We have observed that eNOS gene polymorphism was associated with CAD in angiography-confirmed patients. However, the difference in eNOS gene expression was not statistically significant between patients and control which might be due to the contribution of other confounding factors which require further investigations.


2005 ◽  
Vol 65 (4) ◽  
pp. 1587-1597 ◽  
Author(s):  
Barbara Jarząb ◽  
Małgorzata Wiench ◽  
Krzysztof Fujarewicz ◽  
Krzysztof Simek ◽  
Michał Jarząb ◽  
...  

Surgery Today ◽  
2021 ◽  
Author(s):  
Masahiro Shibata ◽  
Takahiro Inaishi ◽  
Takahiro Ichikawa ◽  
Dai Shimizu ◽  
Ikumi Soeda ◽  
...  

2000 ◽  
Vol 85 (5) ◽  
pp. 1923-1927
Author(s):  
E. Pauws ◽  
J. C. Moreno ◽  
M. Tijssen ◽  
F. Baas ◽  
J. J. M. de Vijlder ◽  
...  

Abstract The assessment of the expression profile of normal human thyroid tissue using serial analysis of gene expression (SAGE) generated a collection of 10,994 sequence transcripts (tags). Each tag represented a messenger RNA transcript, and, in total, 6099 different tags could be distinguished. The presence and abundance of thyroid-specific transcripts showed the overall expression profile to be from a normal thyroid cell. The expression level of several transcripts was confirmed on Northern blot. Seventy percent of tags could not be attributed to a known human gene and, therefore, possibly correspond to novel genes putatively involved in thyroid function. The tag sequence generated by the SAGE technique can be used to further characterize these novel genes. In this way, application of the SAGE technique to thyroid tissue gives insight in the expression profile of a normal thyroid gland and provides the information to characterize novel genes involved in thyroid pathology, such as congenital hypothyroidism and thyroid neoplasia.


Pathobiology ◽  
2020 ◽  
Vol 87 (Suppl. 2) ◽  
pp. 143-154 ◽  
Author(s):  
Malgorzata Oczko-Wojciechowska ◽  
Aleksandra Pfeifer ◽  
Michal Jarzab ◽  
Michał Swierniak ◽  
Dagmara Rusinek ◽  
...  

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