ECE2017 Eposter Presentations: Thyroid Thyroid (non-cancer) (260 abstracts)
Mutation analysis of papillary thyroid cancers using a newly developed targeted multi-gene panel in Hungarian population
Barbara Kocsis-Deák 1 , Kristóf Árvai 1 , Bernadett Balla 1 , Bálint Tóbiás 1 , Andrea Kövesdi 1 , János Kósa 1 , Balázs Járay 2 , Tamás Székely 2 , János Horányi 3 & Péter Lakatos 1
1Department of Internal Medicine, Semmelweis University, Budapest, Hungary; 2Department of Pathology, Semmelweis University, Budapest, Hungary; 3Department of Surgery, Semmelweis University, Budapest, Hungary.
Thyroid cancer is the most common malignancy of endocrine organs and its incidence is steadily growing worldwide. Approximately 80% of differentiated thyroid tumors are papillary carcinomas. Next-generation sequencing (NGS) allows for high-throughput sequencing analysis of large number of samples at a time in a cost effective manner. We have developed a targeted sequencing parallel testing panel for multiple mutations in genes involved in thyroid cancer pathology. A custom-made AmpliSeq hot spot panel was designed to target 23 cancer genes (NRAS, MET, CTNNB1, PIK3CA, DICER1, VHL, BRAF, PTEN, LPAR4, EIF1AX, HRAS, RET, GAS8-AS1, KRAS, TSHR, AKT1, GNAS, TERT, TP53, AXIN1, APC, IDH1, SMAD4) which containes 357 known mutational hot spot areas with COSMIC IDs. Semiconductor sequencing was performed to analyze DNA from 56 papillary thyroid carcinomas with matched normal fresh frozen samples. The average coverage was 400X. BRAF, TSHR, APC, RET, LPAR4, TP53, AXIN1 and SMAD4 genes were the most mutated genes in our papillary thyroid cancer samples. Altogether, mutations, with at least 5% variant coverage and less than 1% minor allele frequency in general population, could be shown in all of the samples, while mutation could be seen in seven control samples. The distribution of genetic alterations was similar to the published data. The sensitivity and the specificity of the method were 100% and 90%, respectively with a positive predictive value of 87%. Our multi-gene panel testing approach allows parallel analysis for multiple mutations with high accuracy and sensitivity, and short turnaround times.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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