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

• Published in: Journal of molecular endocrinology Vol. 47; no. 3; pp. R91 - R103
• Main Authors: Rusinek, Dagmara, Szpak-Ulczok, Sylwia, Jarzab, Barbara
• Format: Journal Article
• Language: English
• Published: England Society for Endocrinology 01.12.2011
• Subjects: Adenocarcinoma, Follicular; Carcinogenesis; Carcinoma; Carcinoma, Papillary; Differentiation; Gene expression; Gene Expression Profiling; gene rearrangement; Humans; MAP kinase; Mutation; papillary thyroid cancer; Pax8 protein; Peroxisome proliferator-activated receptors; Prognosis; Review; thyroid cancer; Thyroid Cancer, Papillary; Thyroid Carcinoma, Anaplastic; Thyroid Neoplasms - genetics; Transcriptome; Tumors
• ISSN: 0952-5041; 1479-6813
• DOI: 10.1530/JME-11-0023

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 of BRAF mutation. 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 the RAS mutation, 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.