Endocrinol Metab.  2015 Sep;30(3):252-262. 10.3803/EnM.2015.30.3.252.

Mutation Profile of Well-Differentiated Thyroid Cancer in Asians

• Song YS
• Lim JA
• Park YJ

• KMID: 2407074
• DOI: http://doi.org/10.3803/EnM.2015.30.3.252

Abstract

Recent advances in molecular diagnostics have led to significant insights into the genetic basis of thyroid tumorigenesis. Among the mutations commonly seen in thyroid cancers, the vast majority are associated with the mitogen-activated protein kinase pathway. B-Raf proto-oncogene (BRAF) mutations are the most common mutations observed in papillary thyroid cancers (PTCs), followed by RET/PTC rearrangements and RAS mutations, while follicular thyroid cancers are more likely to harbor RAS mutations or PAX8/peroxisome proliferator-activated receptor gamma (PPARgamma) rearrangements. Beyond these more common mutations, alterations in the telomerase reverse transcriptase (TERT) promoter have recently been associated with clinicopathologic features, disease prognosis, and tumorigenesis in thyroid cancer. While the mutations underlying thyroid tumorigenesis are well known, the frequency of these mutations is strongly associated with geography, with clear differences reported between Asian and Western countries. Of particular interest is the prevalence of BRAF mutations, with Korean patients exhibiting the highest rate of BRAF-associated thyroid cancers in the world. Here, we review the prevalence of each of the most common mutations in Asian and Western countries, and identify the characteristics of well-differentiated thyroid cancer in Asians.

Keyword

Mutation; Thyroid neoplasms; Asia; Proto-oncogene proteins B-raf; Ret-PTC fusion oncoproteins; Oncogene proteins ras; PPAR gamma; Telomerase

MeSH Terms

Asia
Asian Continental Ancestry Group*
Carcinogenesis
Geography
Humans
Pathology, Molecular
PPAR gamma
Prevalence
Prognosis
Protein Kinases
Proto-Oncogene Proteins B-raf
Proto-Oncogenes
Telomerase
Thyroid Gland*
Thyroid Neoplasms*
PPAR gamma
Protein Kinases
Proto-Oncogene Proteins B-raf
Telomerase

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