ECE2021 Presented Eposters Presented ePosters 5: Thyroid (8 abstracts)
Genetic profiles of aggressive variants of papillary thyroid carcinomas
Meihua Jin 1 , Dong Eun Song 2 , Jonghwa Ahn 1 , Eyun Song 3 , Yu-Mi Lee 4 , Tae-Yon Sung 4 , Tae Yong Kim 1 , Won Bae Kim 1 , Young Kee Shong 1 , Min Ji Jeon 1 & Won Gu Kim 1
1Asan Medical Center, Division of Endocrinology and Metabolism, Department of Internal Medicine, Seoul, Republic of South Korea; 2Asan medical center, Department of Pathology, Seoul, Republic of South Korea; 3Korea University College of Medicine and School of Medicine, Division of Endocrinology and Metablosim, Department of Internal Medicine, Republic of South Korea; 4Asan medical center, Department of Surgery, Seoul, Republic of South Korea
Background
Aggressive variants of papillary thyroid carcinoma (PTC) have been described with increasing frequency and are associated with unfavorable clinical outcomes. However, limited data exists on the comprehensive genetic profile of these variants.
Method
We performed targeted next generation sequencing in 36 patients with aggressive variants of PTC and compared it to PTC from The Cancer Genome Atlas project and poorly differentiated thyroid cancers (PDTCs)/anaplastic thyroid cancers (ATCs) from the Memorial Sloan Kettering Cancer Center.
Result
BRAF mutation was the most prevalent (89%) in aggressive variants of PTC compared to that in other thyroid cancers. NRAS mutation was identified in one patient (3%), which was less frequent than in others TERT promoter mutation (17%) ranged between that of PTCs (9%) and PDTCs (40%). Tumor suppressor genes, ZFHX3, TP53, and CHEK2 were mutated in 14%, 3%, and 6% of aggressive variants of PTCs, respectively. The total accumulation rate of tumor suppressor gene mutations was 23%, which was significantly higher than that of PTCs (4%), and lower than that of ATCs (76%). Mutations in three functional groups, histone methyl transferases, SWI/SNF chromatin remodeling complex, and the PI3K/AKT/mTOR pathway were present in 11%, 14%, and 11% of samples, respectively.
Conclusion
Aggressive variants of PTC had higher BRAF and lower NRAS mutation prevalence than other thyroid cancers. The prevalence of mutations in the TERT promoter, tumor suppressor gene, and genes encoding three functional groups ranged between that of PTCs and PDTCs/ATCs. These genetic profiles might be associated with clinical outcomes of aggressive variants of PTC.
Volume 73
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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